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Mendeliome v0.450 CACNB4 Zornitza Stark Mode of inheritance for gene: CACNB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.449 CACNB4 Zornitza Stark Classified gene: CACNB4 as Amber List (moderate evidence)
Mendeliome v0.449 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.448 CACNB4 Zornitza Stark Added comment: Comment on phenotypes: One family with episodic ataxia; susceptibility locus for different types of epilepsy.
Mendeliome v0.448 CACNB4 Zornitza Stark Phenotypes for gene: CACNB4 were changed from to {Epilepsy, juvenile myoclonic, susceptibility to, 6}, MIM# 607682; {Epilepsy, idiopathic generalized, susceptibility to, 9}, MIM#607682; Episodic ataxia, type 5, MIM#613855
Mendeliome v0.447 CACNB4 Zornitza Stark reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: None; Publications: 10762541, 9628818, 27003325; Phenotypes: Episodic ataxia, type 5, MIM#613855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.3 CACNB4 Zornitza Stark Marked gene: CACNB4 as ready
Brain Channelopathies v0.3 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Brain Channelopathies v0.3 CACNB4 Zornitza Stark Phenotypes for gene: CACNB4 were changed from to Episodic ataxia, type 5, MIM#613855
Brain Channelopathies v0.2 CACNB4 Zornitza Stark Publications for gene: CACNB4 were set to
Brain Channelopathies v0.1 CACNB4 Zornitza Stark Classified gene: CACNB4 as Amber List (moderate evidence)
Brain Channelopathies v0.1 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Brain Channelopathies v0.0 CACNB4 Zornitza Stark reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: None; Publications: 10762541, 9628818, 27003325; Phenotypes: Episodic ataxia, type 5, MIM#613855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Alternating Hemiplegia and Hemiplegic Migraine v0.4 CACNB4 Zornitza Stark Marked gene: CACNB4 as ready
Alternating Hemiplegia and Hemiplegic Migraine v0.4 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Alternating Hemiplegia and Hemiplegic Migraine v0.4 CACNB4 Zornitza Stark Phenotypes for gene: CACNB4 were changed from to Episodic ataxia, type 5, MIM#613855
Alternating Hemiplegia and Hemiplegic Migraine v0.3 CACNB4 Zornitza Stark Publications for gene: CACNB4 were set to
Alternating Hemiplegia and Hemiplegic Migraine v0.2 CACNB4 Zornitza Stark Mode of inheritance for gene: CACNB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Alternating Hemiplegia and Hemiplegic Migraine v0.1 CACNB4 Zornitza Stark Classified gene: CACNB4 as Amber List (moderate evidence)
Alternating Hemiplegia and Hemiplegic Migraine v0.1 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Alternating Hemiplegia and Hemiplegic Migraine v0.0 CACNB4 Zornitza Stark reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: None; Publications: 10762541, 9628818, 27003325; Phenotypes: Episodic ataxia, type 5, MIM#613855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.447 CAPN1 Zornitza Stark Marked gene: CAPN1 as ready
Mendeliome v0.447 CAPN1 Zornitza Stark Gene: capn1 has been classified as Green List (High Evidence).
Mendeliome v0.447 CAPN1 Zornitza Stark Phenotypes for gene: CAPN1 were changed from to Spastic paraplegia 76, autosomal recessive, MIM#616907
Mendeliome v0.446 CAPN1 Zornitza Stark Publications for gene: CAPN1 were set to
Mendeliome v0.445 CAPN1 Zornitza Stark Mode of inheritance for gene: CAPN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.444 CAPN1 Zornitza Stark reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27153400; Phenotypes: Spastic paraplegia 76, autosomal recessive, MIM#616907; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.15 CCDC28B Zornitza Stark Marked gene: CCDC28B as ready
Renal Ciliopathies and Nephronophthisis v0.15 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.15 CCDC28B Zornitza Stark Phenotypes for gene: CCDC28B were changed from to {Bardet-Biedl syndrome 1, modifier of}, MIM#209900
Renal Ciliopathies and Nephronophthisis v0.14 CCDC28B Zornitza Stark Mode of inheritance for gene: CCDC28B was changed from Unknown to Other
Renal Ciliopathies and Nephronophthisis v0.13 CCDC28B Zornitza Stark Classified gene: CCDC28B as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.13 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Red List (Low Evidence).
Mendeliome v0.444 CCDC28B Zornitza Stark Marked gene: CCDC28B as ready
Mendeliome v0.444 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.12 CCDC28B Zornitza Stark reviewed gene: CCDC28B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Bardet-Biedl syndrome 1, modifier of}, MIM#209900; Mode of inheritance: Other
Mendeliome v0.444 CCDC28B Zornitza Stark Mode of inheritance for gene: CCDC28B was changed from Unknown to Other
Mendeliome v0.443 CCDC28B Zornitza Stark Phenotypes for gene: CCDC28B were changed from to {Bardet-Biedl syndrome 1, modifier of}, MIM#209900
Ciliopathies v0.14 CCDC28B Zornitza Stark Marked gene: CCDC28B as ready
Ciliopathies v0.14 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Red List (Low Evidence).
Mendeliome v0.442 CCDC28B Zornitza Stark Classified gene: CCDC28B as Red List (low evidence)
Mendeliome v0.442 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Red List (Low Evidence).
Ciliopathies v0.14 CCDC28B Zornitza Stark Mode of inheritance for gene: CCDC28B was changed from Unknown to Other
Mendeliome v0.441 CCDC28B Zornitza Stark reviewed gene: CCDC28B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Bardet-Biedl syndrome 1, modifier of}, MIM#209900; Mode of inheritance: Other
Ciliopathies v0.13 CCDC28B Zornitza Stark Phenotypes for gene: CCDC28B were changed from to {Bardet-Biedl syndrome 1, modifier of}, MIM#209900
Ciliopathies v0.12 CCDC28B Zornitza Stark Classified gene: CCDC28B as Red List (low evidence)
Ciliopathies v0.12 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Red List (Low Evidence).
Ciliopathies v0.11 CCDC28B Zornitza Stark reviewed gene: CCDC28B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Bardet-Biedl syndrome 1, modifier of}, MIM#209900; Mode of inheritance: Other
Mendeliome v0.441 COA7 Zornitza Stark Marked gene: COA7 as ready
Mendeliome v0.441 COA7 Zornitza Stark Gene: coa7 has been classified as Green List (High Evidence).
Mendeliome v0.441 COA7 Zornitza Stark Classified gene: COA7 as Green List (high evidence)
Mendeliome v0.441 COA7 Zornitza Stark Gene: coa7 has been classified as Green List (High Evidence).
Mendeliome v0.440 COA7 Zornitza Stark gene: COA7 was added
gene: COA7 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA7 were set to 29718187; 27683825
Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, MIM#618387
Review for gene: COA7 was set to GREEN
Added comment: Five unrelated individuals reported with bi-allelic variants in this gene. Slowly progressive condition with variable onset, but at least three individuals presented at <5 years of age.
Sources: Expert list
Regression v0.27 CCDC88C Zornitza Stark Mode of inheritance for gene: CCDC88C was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.439 CCDC88C Zornitza Stark Mode of inheritance for gene: CCDC88C was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrocephalus_Ventriculomegaly v0.4 CCDC88C Zornitza Stark Marked gene: CCDC88C as ready
Hydrocephalus_Ventriculomegaly v0.4 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.4 CCDC88C Zornitza Stark Phenotypes for gene: CCDC88C were changed from to Spinocerebellar ataxia 40, MIM#616053
Hydrocephalus_Ventriculomegaly v0.3 CCDC88C Zornitza Stark Publications for gene: CCDC88C were set to
Hydrocephalus_Ventriculomegaly v0.2 CCDC88C Zornitza Stark Mode of inheritance for gene: CCDC88C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrocephalus_Ventriculomegaly v0.1 CCDC88C Zornitza Stark Classified gene: CCDC88C as Amber List (moderate evidence)
Hydrocephalus_Ventriculomegaly v0.1 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.0 CCDC88C Zornitza Stark reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: None; Publications: 25062847, 30398676; Phenotypes: Spinocerebellar ataxia 40, MIM#616053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.438 CCDC88C Zornitza Stark Marked gene: CCDC88C as ready
Mendeliome v0.438 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.438 CCDC88C Zornitza Stark Phenotypes for gene: CCDC88C were changed from to Spinocerebellar ataxia 40, MIM#616053
Mendeliome v0.437 CCDC88C Zornitza Stark Publications for gene: CCDC88C were set to
Mendeliome v0.436 CCDC88C Zornitza Stark Mode of inheritance for gene: CCDC88C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.435 CCDC88C Zornitza Stark Classified gene: CCDC88C as Amber List (moderate evidence)
Mendeliome v0.435 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.434 CCDC88C Zornitza Stark reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: None; Publications: 25062847, 30398676; Phenotypes: Spinocerebellar ataxia 40, MIM#616053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.26 CCDC88C Zornitza Stark Marked gene: CCDC88C as ready
Regression v0.26 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Regression v0.26 CCDC88C Zornitza Stark Mode of inheritance for gene: CCDC88C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.25 CCDC88C Zornitza Stark Phenotypes for gene: CCDC88C were changed from to Spinocerebellar ataxia 40, MIM#616053
Regression v0.24 CCDC88C Zornitza Stark Publications for gene: CCDC88C were set to
Regression v0.23 CCDC88C Zornitza Stark Classified gene: CCDC88C as Amber List (moderate evidence)
Regression v0.23 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Regression v0.22 CCDC88C Zornitza Stark reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: None; Publications: 25062847, 30398676; Phenotypes: Spinocerebellar ataxia 40, MIM#616053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1444 CCDC88C Zornitza Stark Marked gene: CCDC88C as ready
Intellectual disability syndromic and non-syndromic v0.1444 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1444 CCDC88C Zornitza Stark Mode of inheritance for gene: CCDC88C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1443 CCDC88C Zornitza Stark Phenotypes for gene: CCDC88C were changed from to Spinocerebellar ataxia 40, MIM#616053
Intellectual disability syndromic and non-syndromic v0.1442 CCDC88C Zornitza Stark Publications for gene: CCDC88C were set to
Intellectual disability syndromic and non-syndromic v0.1441 CCDC88C Zornitza Stark Classified gene: CCDC88C as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1441 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1440 CCDC88C Zornitza Stark reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: None; Publications: 25062847, 30398676; Phenotypes: Spinocerebellar ataxia 40, MIM#616053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1440 COQ5 Zornitza Stark Marked gene: COQ5 as ready
Intellectual disability syndromic and non-syndromic v0.1440 COQ5 Zornitza Stark Gene: coq5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1440 COQ5 Zornitza Stark Phenotypes for gene: COQ5 were changed from to Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability
Intellectual disability syndromic and non-syndromic v0.1439 COQ5 Zornitza Stark Publications for gene: COQ5 were set to
Intellectual disability syndromic and non-syndromic v0.1438 COQ5 Zornitza Stark Mode of inheritance for gene: COQ5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1437 COQ5 Zornitza Stark Classified gene: COQ5 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1437 COQ5 Zornitza Stark Gene: coq5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1436 COQ5 Zornitza Stark reviewed gene: COQ5: Rating: RED; Mode of pathogenicity: None; Publications: 29044765; Phenotypes: Cerebellar ataxia, encephalopathy, generalized tonic-clonic seizures, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.434 COQ5 Zornitza Stark Marked gene: COQ5 as ready
Mendeliome v0.434 COQ5 Zornitza Stark Gene: coq5 has been classified as Red List (Low Evidence).
Mendeliome v0.434 COQ5 Zornitza Stark Phenotypes for gene: COQ5 were changed from to Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability
Mendeliome v0.433 COQ5 Zornitza Stark Mode of inheritance for gene: COQ5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.432 COQ5 Zornitza Stark Publications for gene: COQ5 were set to
Mendeliome v0.431 COQ5 Zornitza Stark Classified gene: COQ5 as Red List (low evidence)
Mendeliome v0.431 COQ5 Zornitza Stark Gene: coq5 has been classified as Red List (Low Evidence).
Mendeliome v0.430 COQ5 Zornitza Stark reviewed gene: COQ5: Rating: RED; Mode of pathogenicity: None; Publications: 29044765; Phenotypes: Cerebellar ataxia, encephalopathy, generalized tonic-clonic seizures, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.22 EEF2 Zornitza Stark Marked gene: EEF2 as ready
Regression v0.22 EEF2 Zornitza Stark Gene: eef2 has been classified as Red List (Low Evidence).
Regression v0.22 EEF2 Zornitza Stark Phenotypes for gene: EEF2 were changed from to Spinocerebellar ataxia 26
Regression v0.22 EEF2 Zornitza Stark Publications for gene: EEF2 were set to
Regression v0.21 EEF2 Zornitza Stark Mode of inheritance for gene: EEF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.21 EEF2 Zornitza Stark Classified gene: EEF2 as Red List (low evidence)
Regression v0.21 EEF2 Zornitza Stark Gene: eef2 has been classified as Red List (Low Evidence).
Regression v0.20 EEF2 Zornitza Stark reviewed gene: EEF2: Rating: RED; Mode of pathogenicity: None; Publications: 15732118, 23001565; Phenotypes: Spinocerebellar ataxia 26; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.430 EEF2 Zornitza Stark Marked gene: EEF2 as ready
Mendeliome v0.430 EEF2 Zornitza Stark Gene: eef2 has been classified as Red List (Low Evidence).
Mendeliome v0.430 EEF2 Zornitza Stark Phenotypes for gene: EEF2 were changed from to Spinocerebellar ataxia 26
Mendeliome v0.429 EEF2 Zornitza Stark Publications for gene: EEF2 were set to
Mendeliome v0.428 EEF2 Zornitza Stark Mode of inheritance for gene: EEF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.427 EEF2 Zornitza Stark Classified gene: EEF2 as Red List (low evidence)
Mendeliome v0.427 EEF2 Zornitza Stark Gene: eef2 has been classified as Red List (Low Evidence).
Mendeliome v0.426 EEF2 Zornitza Stark reviewed gene: EEF2: Rating: RED; Mode of pathogenicity: None; Publications: 15732118, 23001565; Phenotypes: Spinocerebellar ataxia 26; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia - complex v0.0 YY1 Bryony Thompson gene: YY1 was added
gene: YY1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: YY1 were set to Gabriele-de Vries syndrome 617557
Dystonia - complex v0.0 WDR73 Bryony Thompson gene: WDR73 was added
gene: WDR73 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR73 were set to Galloway-Mowat syndrome 1, 251300
Dystonia - complex v0.0 WDR45 Bryony Thompson gene: WDR45 was added
gene: WDR45 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5 300894; beta-propeller protein-associated neurodegeneration; Dystonia
Dystonia - complex v0.0 VPS13A Bryony Thompson gene: VPS13A was added
gene: VPS13A was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13A were set to complex parkinsonism; Choreoacanthocytosis 200150
Dystonia - complex v0.0 VAC14 Bryony Thompson gene: VAC14 was added
gene: VAC14 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: VAC14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VAC14 were set to Striatonigral degeneration, childhood-onset 617054
Dystonia - isolated/combined v0.0 TUBB4A Bryony Thompson gene: TUBB4A was added
gene: TUBB4A was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB4A were set to hereditary whispering dysphonia; Leukodystrophy, hypomyelinating, 6 612438; Dystonia 4, torsion, autosomal dominant, 128101; Dystonia
Dystonia - complex v0.0 TPK1 Bryony Thompson gene: TPK1 was added
gene: TPK1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPK1 were set to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type); Dystonia
Dystonia - complex v0.0 TOR1AIP1 Bryony Thompson gene: TOR1AIP1 was added
gene: TOR1AIP1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Red
Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1AIP1 were set to 25425325
Phenotypes for gene: TOR1AIP1 were set to Dystonia, cerebellar atrophy, and cardiomyopathy
Dystonia - isolated/combined v0.0 TOR1A Bryony Thompson gene: TOR1A was added
gene: TOR1A was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TOR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TOR1A were set to Autosomal dominant or sporadic dystonia (DYT1); Early-Onset Primary Dystonia; Dystonia-1, torsion, 128100
Dystonia - complex v0.0 TIMM8A Bryony Thompson gene: TIMM8A was added
gene: TIMM8A was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TIMM8A was set to
Phenotypes for gene: TIMM8A were set to Deafness-Dystonia-Optic Neuronopathy Syndrome
Dystonia - isolated/combined v0.0 THAP1 Bryony Thompson gene: THAP1 was added
gene: THAP1 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: THAP1 were set to Dystonia 6, torsion, 602629; Dystonia
Dystonia - isolated/combined v0.0 TH Bryony Thompson gene: TH was added
gene: TH was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TH were set to Segawa syndrome, recessive, 605407; Tyrosine Hydroxylase Deficiency; DOPA-responsive dystonia; Segawa syndrome; paediatric form of dopa responsive dystonia
Dystonia - isolated/combined v0.0 TAF1 Bryony Thompson gene: TAF1 was added
gene: TAF1 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TAF1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: TAF1 were set to Dystonia-Parkinsonism, X-linked, 314250; (NB complex mutation)
Dystonia - complex v0.0 SYNJ1 Bryony Thompson gene: SYNJ1 was added
gene: SYNJ1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SYNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SYNJ1 were set to juvenile Parkinsonism; Parkinson disease 20, early-onset
Dystonia - complex v0.0 SUCLA2 Bryony Thompson gene: SUCLA2 was added
gene: SUCLA2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria); Dystonia
Dystonia - isolated/combined v0.0 SPR Bryony Thompson gene: SPR was added
gene: SPR was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716
Dystonia - complex v0.0 SLC6A3 Bryony Thompson gene: SLC6A3 was added
gene: SLC6A3 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A3 were set to Dopamine transporter deficiency; Parkinsonism-dystonia, infantile, 613135
Dystonia - complex v0.0 SLC39A14 Bryony Thompson gene: SLC39A14 was added
gene: SLC39A14 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2 617013
Dystonia - complex v0.0 SLC30A10 Bryony Thompson gene: SLC30A10 was added
gene: SLC30A10 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC30A10 were set to Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease; Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280
Dystonia - isolated/combined v0.0 SLC2A1 Bryony Thompson gene: SLC2A1 was added
gene: SLC2A1 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A1 were set to GLUT1 deficiency syndrome 2, childhood onset; GLUT1 deficiency syndrome 1, infantile onset, severe; GLUT1 deficiency syndrome 2; Dystonia; GLUT1 deficiency syndrome 1, 606777; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; dystonia 9
Dystonia - complex v0.0 SLC20A2 Bryony Thompson gene: SLC20A2 was added
gene: SLC20A2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC20A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC20A2 were set to Basal ganglia calcification, idiopathic, 1 213600; Dystonia
Dystonia - complex v0.0 SLC19A3 Bryony Thompson gene: SLC19A3 was added
gene: SLC19A3 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 607483; Dystonia
Dystonia - isolated/combined v0.0 SGCE Bryony Thompson gene: SGCE was added
gene: SGCE was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SGCE was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes for gene: SGCE were set to maternally imprinted Dystonia-11, myoclonic, 159900; Myoclonus dystonia syndrome; Myoclonus-Dystonia
Dystonia - complex v0.0 SERAC1 Bryony Thompson gene: SERAC1 was added
gene: SERAC1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERAC1 were set to 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; Lesions in the basal ganglia
Dystonia - complex v0.0 QDPR Bryony Thompson gene: QDPR was added
gene: QDPR was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: QDPR were set to Hyperphenylalaninemia, BH4-deficient, C, 261630; Dihydropteridine reductase deficiency; Dystonia
Dystonia - complex v0.0 PTS Bryony Thompson gene: PTS was added
gene: PTS was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTS were set to Hyperphenylalaninemia, BH4-deficient, A, 261640; 6-Pyruvoyltetrahydropterin Synthase Deficiency; Dystonia
Dystonia - complex v0.0 PSEN1 Bryony Thompson gene: PSEN1 was added
gene: PSEN1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PSEN1 were set to 28664294; 12810495; 15159497; 29316780
Phenotypes for gene: PSEN1 were set to Frontotemporal dementia; Dystonia
Dystonia - isolated/combined v0.0 PRRT2 Bryony Thompson gene: PRRT2 was added
gene: PRRT2 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRRT2 were set to dystonia and occasionally hemiplegic migraine and epilepsy; episodic kinesigenic dyskinesia; SEIZURES, BENIGN FAMILIAL INFANTILE, 2; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions; Episodic kinesigenic dyskinesia 1, 128200
Dystonia - isolated/combined v0.0 PRKRA Bryony Thompson gene: PRKRA was added
gene: PRKRA was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRKRA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRKRA were set to early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa; Dystonia 16, 612067; Dystonia
Dystonia - complex v0.0 PRKN Bryony Thompson gene: PRKN was added
gene: PRKN was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRKN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRKN were set to juvenile parkinsonism/dystonia; Parkinson disease, juvenile, type 2; Dystonia
Dystonia - isolated/combined v0.0 PNKD Bryony Thompson gene: PNKD was added
gene: PNKD was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PNKD were set to PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; Familial Paroxysmal Nonkinesigenic Dyskinesia; Paroxysmal nonkinesigenic dyskinesia, 118800
Dystonia - complex v0.0 PLA2G6 Bryony Thompson gene: PLA2G6 was added
gene: PLA2G6 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLA2G6 were set to Parkinson disease 14, autosomal recessive 612953; PLA2G6-associated neurodegeneration; Neurodegeneration with brain iron accumulation 2B 610217; Infantile neuroaxonal dystrophy 1 256600
Dystonia - complex v0.0 PINK1 Bryony Thompson gene: PINK1 was added
gene: PINK1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PINK1 were set to Parkinson disease 6, early onset; Dystonia
Dystonia - complex v0.0 PDGFRB Bryony Thompson gene: PDGFRB was added
gene: PDGFRB was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PDGFRB were set to Dystonia; Basal ganglia calcification, idiopathic, 4 615007
Dystonia - complex v0.0 PDGFB Bryony Thompson gene: PDGFB was added
gene: PDGFB was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PDGFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PDGFB were set to Basal ganglia calcification, idiopathic, 5 615483
Dystonia - complex v0.0 PANK2 Bryony Thompson gene: PANK2 was added
gene: PANK2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PANK2 were set to pantothenate kinase-associated neurodegeneration; Dystonia
Dystonia - complex v0.0 NPC2 Bryony Thompson gene: NPC2 was added
gene: NPC2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC2 were set to Niemann-Pick disease type C2; Dystonia
Dystonia - complex v0.0 NPC1 Bryony Thompson gene: NPC1 was added
gene: NPC1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC1 were set to Niemann-Pick disease type C1
Dystonia - complex v0.0 NKX6-2 Bryony Thompson gene: NKX6-2 was added
gene: NKX6-2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
Dystonia - isolated/combined v0.0 MECR Bryony Thompson gene: MECR was added
gene: MECR was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MECR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MECR were set to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282
Dystonia - isolated/combined v0.0 KMT2B Bryony Thompson gene: KMT2B was added
gene: KMT2B was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KMT2B were set to early-onset dystonia; Dystonia 28, childhood-onset 617284
Dystonia - isolated/combined v0.0 KCTD17 Bryony Thompson gene: KCTD17 was added
gene: KCTD17 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KCTD17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCTD17 were set to Dystonia 26, myoclonic
Dystonia - complex v0.0 HTRA2 Bryony Thompson gene: HTRA2 was added
gene: HTRA2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII 617248
Dystonia - complex v0.0 HPRT1 Bryony Thompson gene: HPRT1 was added
gene: HPRT1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HPRT1 were set to Lesch-Nyhan syndrome; Dystonia
Dystonia - isolated/combined v0.0 HPCA Bryony Thompson gene: HPCA was added
gene: HPCA was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HPCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPCA were set to Dystonia 2, torsion, autosomal recessive, 224500; childhood-onset generalized dystonia; adolescence-onset segmental dystonia; generalized dystonia with additional neurological features
Dystonia - complex v0.0 GNB1 Bryony Thompson gene: GNB1 was added
gene: GNB1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNB1 were set to 30194818
Phenotypes for gene: GNB1 were set to Mental retardation, autosomal dominant 42; Myoclonus dystonia
Dystonia - complex v0.0 GNAO1 Bryony Thompson gene: GNAO1 was added
gene: GNAO1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNAO1 were set to Neurodevelopmental disorder with involuntary movements, 617493
Dystonia - isolated/combined v0.0 GNAL Bryony Thompson gene: GNAL was added
gene: GNAL was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GNAL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GNAL were set to Dystonia 25, 615073
Dystonia - complex v0.0 GLB1 Bryony Thompson gene: GLB1 was added
gene: GLB1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLB1 were set to Infantile GM1 gangliosidosis
Dystonia - isolated/combined v0.0 GCH1 Bryony Thompson gene: GCH1 was added
gene: GCH1 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GCH1 were set to GTP-cyclohydrolase deficiency; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dopa-Responsive Dystonia (DRD); Hyperphenylalaninemia, BH4-deficient, B, 233910
Dystonia - complex v0.0 GCDH Bryony Thompson gene: GCDH was added
gene: GCDH was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCDH were set to Glutaric aciduria, type 1; Dystonia
Dystonia - complex v0.0 FTL Bryony Thompson gene: FTL was added
gene: FTL was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FTL were set to Neurodegeneration with brain iron accumulation 3 606159
Dystonia - complex v0.0 FOXG1 Bryony Thompson gene: FOXG1 was added
gene: FOXG1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXG1 were set to Rett syndrome, congenital variant; Dystonia
Dystonia - complex v0.0 FBXO7 Bryony Thompson gene: FBXO7 was added
gene: FBXO7 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FBXO7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBXO7 were set to juvenile parkinsonism; Dystonia
Dystonia - complex v0.0 FA2H Bryony Thompson gene: FA2H was added
gene: FA2H was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FA2H were set to Dystonia; Spastic paraplegia 35, autosomal recessive 612319; fatty acid hydroxylase-associated neurodegeneration
Dystonia - isolated/combined v0.0 ECHS1 Bryony Thompson gene: ECHS1 was added
gene: ECHS1 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-coa hydratase 1 deficiency
Dystonia - complex v0.0 DNAJC12 Bryony Thompson gene: DNAJC12 was added
gene: DNAJC12 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, 617384
Dystonia - complex v0.0 DLAT Bryony Thompson gene: DLAT was added
gene: DLAT was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLAT were set to Pyruvate dehydrogenase E2 deficiency 245348; Dystonia
Dystonia - complex v0.0 DDC Bryony Thompson gene: DDC was added
gene: DDC was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency, 608643; Dystonia
Dystonia - complex v0.0 DCAF17 Bryony Thompson gene: DCAF17 was added
gene: DCAF17 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome; Dystonia
Dystonia - complex v0.0 CYP27A1 Bryony Thompson gene: CYP27A1 was added
gene: CYP27A1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27A1 were set to Cholestanol storage disease; Dystonia
Dystonia - complex v0.0 CP Bryony Thompson gene: CP was added
gene: CP was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CP were set to Hemosiderosis, systemic, due to aceruloplasminemia 604290; Dystonia; Cerebellar ataxia 604290; Aceruloplasminemia; [Hypoceruloplasminemia, hereditary] 604290
Dystonia - isolated/combined v0.0 COL6A3 Bryony Thompson gene: COL6A3 was added
gene: COL6A3 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A3 were set to Dystonia 27
Dystonia - complex v0.0 COASY Bryony Thompson gene: COASY was added
gene: COASY was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COASY were set to COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation 6 615643
Dystonia - isolated/combined v0.0 CIZ1 Bryony Thompson gene: CIZ1 was added
gene: CIZ1 was added to Dystonia - isolated/combined_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: CIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CIZ1 were set to 27163549; 29154038; 22447717
Phenotypes for gene: CIZ1 were set to Dystonia 23, 614860
Dystonia - complex v0.0 CHMP2B Bryony Thompson gene: CHMP2B was added
gene: CHMP2B was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Red
Mode of inheritance for gene: CHMP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHMP2B were set to 20301378
Phenotypes for gene: CHMP2B were set to familial frontotemporal lobar degeneration (ALS17); Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Dystonia
Dystonia - complex v0.0 C19orf12 Bryony Thompson gene: C19orf12 was added
gene: C19orf12 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: C19orf12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: C19orf12 were set to mitochondrial membrane protein-associated neurodegeneration; neurodegeneration with brain iron accumulation-4; Dystonia
Dystonia - complex v0.0 BCAP31 Bryony Thompson gene: BCAP31 was added
gene: BCAP31 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BCAP31 were set to Deafness, dystonia and cerebellar hypomyelination, 300475
Dystonia - complex v0.0 AUH Bryony Thompson gene: AUH was added
gene: AUH was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AUH were set to 3-Methylglutaconic aciduria type 1; Dystonia
Dystonia - complex v0.0 ATP7B Bryony Thompson gene: ATP7B was added
gene: ATP7B was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP7B were set to Wilson disease 277900; Dystonia
Dystonia - isolated/combined v0.0 ATP1A3 Bryony Thompson gene: ATP1A3 was added
gene: ATP1A3 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP1A3 were set to DYSTONIA 12, 128235; Rapid-Onset Dystonia-Parkinsonism; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820; Dystonia-12, 128235
Dystonia - complex v0.0 ATP13A2 Bryony Thompson gene: ATP13A2 was added
gene: ATP13A2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP13A2 were set to Parkinson disease; Kufor-Rakeb syndrome 606693; Dystonia
Dystonia - complex v0.0 ATM Bryony Thompson gene: ATM was added
gene: ATM was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Ataxia telangiectasia; Dystonia
Dystonia - complex v0.0 ARX Bryony Thompson gene: ARX was added
gene: ARX was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ARX were set to Early infantile epileptic encephalopathy; Dystonia
Dystonia - complex v0.0 APTX Bryony Thompson gene: APTX was added
gene: APTX was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APTX were set to Ataxia-oculomotor apraxia type 1; Dystonia
Dystonia - isolated/combined v0.0 ANO3 Bryony Thompson gene: ANO3 was added
gene: ANO3 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ANO3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ANO3 were set to Dystonia 24, 615034; familial form of cranio-cervical dystonia
Dystonia - isolated/combined v0.0 ADCY5 Bryony Thompson gene: ADCY5 was added
gene: ADCY5 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ADCY5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ADCY5 were set to Familial dyskinesia 606703; dystonia; Dyskinesia, familial, with facial myokymia, 606703
Dystonia - complex v0.0 ADAR Bryony Thompson gene: ADAR was added
gene: ADAR was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAR were set to dystonia; Aicardi-Goutieres syndrome 6, 615010
Dystonia - complex v0.0 ACTB Bryony Thompson gene: ACTB was added
gene: ACTB was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ACTB were set to 29788902; 28487785
Phenotypes for gene: ACTB were set to Baraitser-Winter syndrome 1, 243310; Dystonia, juvenile-onset, 607371
Dystonia - isolated/combined v0.0 Bryony Thompson Added panel Dystonia - isolated/combined_RMH
Dystonia - complex v0.0 Bryony Thompson Added panel Dystonia - complex_RMH
Mendeliome v0.426 FAT2 Zornitza Stark Marked gene: FAT2 as ready
Mendeliome v0.426 FAT2 Zornitza Stark Gene: fat2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.426 FAT2 Zornitza Stark Classified gene: FAT2 as Amber List (moderate evidence)
Mendeliome v0.426 FAT2 Zornitza Stark Gene: fat2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.425 FAT2 Zornitza Stark gene: FAT2 was added
gene: FAT2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: FAT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FAT2 were set to 29053796
Phenotypes for gene: FAT2 were set to Spinocerebellar ataxia 45, MIM#617769
Review for gene: FAT2 was set to AMBER
Added comment: Segregates in one family, and identified in one apparently sporadic case. In vitro functional evidence.
Sources: Expert list
Mendeliome v0.424 GDAP2 Zornitza Stark Marked gene: GDAP2 as ready
Mendeliome v0.424 GDAP2 Zornitza Stark Gene: gdap2 has been classified as Green List (High Evidence).
Mendeliome v0.424 GDAP2 Zornitza Stark Classified gene: GDAP2 as Green List (high evidence)
Mendeliome v0.424 GDAP2 Zornitza Stark Gene: gdap2 has been classified as Green List (High Evidence).
Mendeliome v0.423 GDAP2 Zornitza Stark gene: GDAP2 was added
gene: GDAP2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: GDAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GDAP2 were set to 30084953
Phenotypes for gene: GDAP2 were set to Spinocerebellar ataxia, autosomal recessive 27, MIM#618369
Review for gene: GDAP2 was set to GREEN
Added comment: Two families and animal model.
Sources: Expert list
Ataxia - paediatric v0.8 DOCK3 Bryony Thompson Classified gene: DOCK3 as Green List (high evidence)
Ataxia - paediatric v0.8 DOCK3 Bryony Thompson Gene: dock3 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.7 DOCK3 Bryony Thompson gene: DOCK3 was added
gene: DOCK3 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: DOCK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK3 were set to Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292
Review for gene: DOCK3 was set to GREEN
Added comment: Ataxia is a feature of the phenotype
Sources: Expert list
Ataxia - adult onset v0.1 ATP7B Bryony Thompson Classified gene: ATP7B as Red List (low evidence)
Ataxia - adult onset v0.1 ATP7B Bryony Thompson Gene: atp7b has been classified as Red List (Low Evidence).
Ataxia - adult onset v0.0 ATP7B Bryony Thompson Marked gene: ATP7B as ready
Ataxia - adult onset v0.0 ATP7B Bryony Thompson Gene: atp7b has been classified as Green List (High Evidence).
Ataxia - paediatric v0.6 ATP2B3 Bryony Thompson Marked gene: ATP2B3 as ready
Ataxia - paediatric v0.6 ATP2B3 Bryony Thompson Gene: atp2b3 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.6 ATP2B3 Bryony Thompson Classified gene: ATP2B3 as Amber List (moderate evidence)
Ataxia - paediatric v0.6 ATP2B3 Bryony Thompson Gene: atp2b3 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.5 ATP2B3 Bryony Thompson reviewed gene: ATP2B3: Rating: AMBER; Mode of pathogenicity: None; Publications: 22912398, 27653636, 27632770; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Ataxia - adult onset v0.0 ATP7B Zornitza Stark reviewed gene: ATP7B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilson disease, MIM#277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - adult onset v0.0 ATP1A2 Zornitza Stark reviewed gene: ATP1A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alternating hemiplegia of childhood 1, MIM#104290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - paediatric v0.5 ARMC9 Zornitza Stark reviewed gene: ARMC9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 30, MIM#617622; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.5 AP1S2 Bryony Thompson Marked gene: AP1S2 as ready
Ataxia - paediatric v0.5 AP1S2 Bryony Thompson Gene: ap1s2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.5 AP1S2 Bryony Thompson Classified gene: AP1S2 as Green List (high evidence)
Ataxia - paediatric v0.5 AP1S2 Bryony Thompson Gene: ap1s2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.4 AP1S2 Bryony Thompson gene: AP1S2 was added
gene: AP1S2 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AP1S2 were set to Mental retardation, X-linked syndromic 5, MIM#304340
Review for gene: AP1S2 was set to GREEN
Added comment: Ataxia is part of the phenotype
Sources: Expert list
Ataxia - paediatric v0.3 ACBD5 Bryony Thompson Marked gene: ACBD5 as ready
Ataxia - paediatric v0.3 ACBD5 Bryony Thompson Gene: acbd5 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.3 ACBD5 Bryony Thompson Classified gene: ACBD5 as Amber List (moderate evidence)
Ataxia - paediatric v0.3 ACBD5 Bryony Thompson Gene: acbd5 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.2 ACBD5 Bryony Thompson Classified gene: ACBD5 as Red List (low evidence)
Ataxia - paediatric v0.2 ACBD5 Bryony Thompson Gene: acbd5 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.1 ACBD5 Bryony Thompson gene: ACBD5 was added
gene: ACBD5 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: ACBD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACBD5 were set to 27799409; 23105016
Phenotypes for gene: ACBD5 were set to Leukodystrophy; syndromic cleft palate; ataxia; retinal dystrophy
Review for gene: ACBD5 was set to AMBER
Added comment: 2 unrelated families and no functional evidence
Sources: Expert list
Ataxia_Superpanel v0.0 Zornitza Stark Added Panel Ataxia_SuperPanel_RMH
Set child panels to: Ataxia - paediatric_RMH; Ataxia - adult onset_RMH
Mendeliome v0.422 MN1 Zornitza Stark Marked gene: MN1 as ready
Mendeliome v0.422 MN1 Zornitza Stark Gene: mn1 has been classified as Green List (High Evidence).
Mendeliome v0.422 MN1 Zornitza Stark Phenotypes for gene: MN1 were changed from to Intellectual disability; dysmophic features; rhombencephalosynapsis
Mendeliome v0.421 MN1 Zornitza Stark Publications for gene: MN1 were set to
Mendeliome v0.420 MN1 Zornitza Stark Mode of pathogenicity for gene: MN1 was changed from to Other
Mendeliome v0.419 MN1 Zornitza Stark Mode of inheritance for gene: MN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.418 MN1 Zornitza Stark reviewed gene: MN1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31834374, 31839203; Phenotypes: Intellectual disability, dysmophic features, rhombencephalosynapsis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1436 MN1 Zornitza Stark Marked gene: MN1 as ready
Intellectual disability syndromic and non-syndromic v0.1436 MN1 Zornitza Stark Gene: mn1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1436 MN1 Zornitza Stark Classified gene: MN1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1436 MN1 Zornitza Stark Gene: mn1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1435 MN1 Zornitza Stark gene: MN1 was added
gene: MN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: MN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MN1 were set to 31834374; 31839203
Phenotypes for gene: MN1 were set to Intellectual disability; dysmophic features; rhombencephalosynapsis
Mode of pathogenicity for gene: MN1 was set to Other
Review for gene: MN1 was set to GREEN
Added comment: Over 20 individuals described with de novo truncating variants in this gene; these cluster in the C-terminal and the authors postulate that that syndrome is not due to MN1 haploinsufficiency but rather is the result of dominantly acting C-terminally truncated MN1 protein.
Sources: Literature
Mendeliome v0.418 NDUFAF8 Zornitza Stark Marked gene: NDUFAF8 as ready
Mendeliome v0.418 NDUFAF8 Zornitza Stark Gene: ndufaf8 has been classified as Green List (High Evidence).
Mendeliome v0.418 NDUFAF8 Zornitza Stark Classified gene: NDUFAF8 as Green List (high evidence)
Mendeliome v0.418 NDUFAF8 Zornitza Stark Gene: ndufaf8 has been classified as Green List (High Evidence).
Mendeliome v0.417 NDUFAF8 Zornitza Stark gene: NDUFAF8 was added
gene: NDUFAF8 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF8 were set to 31866046
Phenotypes for gene: NDUFAF8 were set to Leigh syndrome
Review for gene: NDUFAF8 was set to GREEN
Added comment: Three unrelated individuals with bi-allelic variants in this gene; functional data. Beware recurrent deep intronic splicing variant.
Sources: Literature
Mitochondrial disease v0.26 NDUFAF8 Zornitza Stark Marked gene: NDUFAF8 as ready
Mitochondrial disease v0.26 NDUFAF8 Zornitza Stark Gene: ndufaf8 has been classified as Green List (High Evidence).
Mitochondrial disease v0.26 NDUFAF8 Zornitza Stark Classified gene: NDUFAF8 as Green List (high evidence)
Mitochondrial disease v0.26 NDUFAF8 Zornitza Stark Gene: ndufaf8 has been classified as Green List (High Evidence).
Mitochondrial disease v0.25 NDUFAF8 Zornitza Stark gene: NDUFAF8 was added
gene: NDUFAF8 was added to Mitochondrial_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF8 were set to 31866046
Phenotypes for gene: NDUFAF8 were set to Leigh syndrome
Review for gene: NDUFAF8 was set to GREEN
Added comment: Three unrelated individuals with bi-allelic variants in this gene; functional data. Beware recurrent deep intronic splicing variant.
Sources: Literature
Mendeliome v0.416 EEF1B2 Zornitza Stark Marked gene: EEF1B2 as ready
Mendeliome v0.416 EEF1B2 Zornitza Stark Gene: eef1b2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.416 EEF1B2 Zornitza Stark Classified gene: EEF1B2 as Amber List (moderate evidence)
Mendeliome v0.416 EEF1B2 Zornitza Stark Gene: eef1b2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.415 EEF1B2 Zornitza Stark gene: EEF1B2 was added
gene: EEF1B2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: EEF1B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEF1B2 were set to 31845318; 21937992
Phenotypes for gene: EEF1B2 were set to Intellectual disability
Review for gene: EEF1B2 was set to AMBER
Added comment: 5 individuals from two unrelated families described in the literature so far, no functional data but gene belongs to a family implicated in neurodevelopmental disorders.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1434 EEF1B2 Zornitza Stark Marked gene: EEF1B2 as ready
Intellectual disability syndromic and non-syndromic v0.1434 EEF1B2 Zornitza Stark Gene: eef1b2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1434 EEF1B2 Zornitza Stark Classified gene: EEF1B2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1434 EEF1B2 Zornitza Stark Gene: eef1b2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1433 EEF1B2 Zornitza Stark gene: EEF1B2 was added
gene: EEF1B2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: EEF1B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEF1B2 were set to 31845318; 21937992
Phenotypes for gene: EEF1B2 were set to Intellectual disability
Review for gene: EEF1B2 was set to AMBER
Added comment: 5 individuals from two unrelated families described in the literature so far, no functional data but gene belongs to a family implicated in neurodevelopmental disorders.
Sources: Literature
Congenital Stationary Night Blindness v0.0 TRPM1 Bryony Thompson gene: TRPM1 was added
gene: TRPM1 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TRPM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRPM1 were set to Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216
Congenital Stationary Night Blindness v0.0 SLC24A1 Bryony Thompson gene: SLC24A1 was added
gene: SLC24A1 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC24A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC24A1 were set to Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830
Congenital Stationary Night Blindness v0.0 SAG Bryony Thompson gene: SAG was added
gene: SAG was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SAG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAG were set to Oguchi Disease; Retinitis pigmentosa 47; Congenital Stationary Night Blindness
Congenital Stationary Night Blindness v0.0 RPE65 Bryony Thompson gene: RPE65 was added
gene: RPE65 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPE65 were set to Retinitis pigmentosa 20; Leber congenital amaurosis 2, 204100; Leber Congenital Amaurosis; Leber congenital amaurosis 2
Congenital Stationary Night Blindness v0.0 RHO Bryony Thompson gene: RHO was added
gene: RHO was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RHO was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RHO were set to Retinitis punctata albescens; Retinitis pigmentosa; Night blindness, congenital stationary autosomal dominant 1
Congenital Stationary Night Blindness v0.0 RDH5 Bryony Thompson gene: RDH5 was added
gene: RDH5 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RDH5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RDH5 were set to Achromatopsia, Cone, and Cone-rod Dystrophy; Fundus albipunctatus, 136880; Fundus albipunctatus; Congenital Stationary Night Blindness
Congenital Stationary Night Blindness v0.0 PDE6B Bryony Thompson gene: PDE6B was added
gene: PDE6B was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PDE6B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PDE6B were set to Night blindness, congenital stationary, autosomal dominant 2, 163500; Retinitis pigmentosa
Congenital Stationary Night Blindness v0.0 NYX Bryony Thompson gene: NYX was added
gene: NYX was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NYX were set to Night blindness, congenital stationary (complete), 1A, X-linked, 310500
Congenital Stationary Night Blindness v0.0 LRIT3 Bryony Thompson gene: LRIT3 was added
gene: LRIT3 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LRIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRIT3 were set to Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058
Congenital Stationary Night Blindness v0.0 GRM6 Bryony Thompson gene: GRM6 was added
gene: GRM6 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GRM6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRM6 were set to Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270
Congenital Stationary Night Blindness v0.0 GRK1 Bryony Thompson gene: GRK1 was added
gene: GRK1 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRK1 were set to Oguchi disease-2, 613411
Congenital Stationary Night Blindness v0.0 GPR179 Bryony Thompson gene: GPR179 was added
gene: GPR179 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GPR179 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPR179 were set to Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565
Congenital Stationary Night Blindness v0.0 GNB3 Bryony Thompson gene: GNB3 was added
gene: GNB3 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GNB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNB3 were set to Night blindness, congenital stationary, type 1h
Congenital Stationary Night Blindness v0.0 GNAT1 Bryony Thompson gene: GNAT1 was added
gene: GNAT1 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GNAT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GNAT1 were set to Night blindness, congenital stationary, autosomal dominant 3, 610444
Congenital Stationary Night Blindness v0.0 CHM Bryony Thompson gene: CHM was added
gene: CHM was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: CHM were set to Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye)
Congenital Stationary Night Blindness v0.0 CACNA2D4 Bryony Thompson gene: CACNA2D4 was added
gene: CACNA2D4 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CACNA2D4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CACNA2D4 were set to Retinal cone dystrophy 4, 610478; Congenital Stationary Night Blindness
Congenital Stationary Night Blindness v0.0 CACNA1F Bryony Thompson gene: CACNA1F was added
gene: CACNA1F was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CACNA1F was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: CACNA1F were set to Cone-rod dystropy, X-linked, 3, 300476; Aland Island eye disease, 300600; Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071
Congenital Stationary Night Blindness v0.0 CABP4 Bryony Thompson gene: CABP4 was added
gene: CABP4 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CABP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CABP4 were set to Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427
Congenital Stationary Night Blindness v0.0 Bryony Thompson Added panel Congenital Stationary Night Blindness_RMH
Deafness_IsolatedAndComplex v0.11 SLC26A4 Zornitza Stark Marked gene: SLC26A4 as ready
Deafness_IsolatedAndComplex v0.11 SLC26A4 Zornitza Stark Gene: slc26a4 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.11 SLC26A4 Zornitza Stark Phenotypes for gene: SLC26A4 were changed from to Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, MIM#600791; Pendred syndrome, MIM#274600
Deafness_IsolatedAndComplex v0.10 SLC26A4 Zornitza Stark Publications for gene: SLC26A4 were set to
Deafness_IsolatedAndComplex v0.9 SLC26A4 Zornitza Stark Mode of inheritance for gene: SLC26A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.8 SLC26A4 Chern Lim reviewed gene: SLC26A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 9618167, 19204907; Phenotypes: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, MIM#600791, Pendred syndrome, MIM#274600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.8 SLC26A4 Chern Lim Deleted their review
Deafness_IsolatedAndComplex v0.8 SLC26A4 Chern Lim reviewed gene: SLC26A4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 9618167, 19204907; Phenotypes: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, MIM#600791, Pendred syndrome, MIM#274600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.31 YAP1 Zornitza Stark Marked gene: YAP1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.31 YAP1 Zornitza Stark Gene: yap1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.31 YAP1 Zornitza Stark Classified gene: YAP1 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.31 YAP1 Zornitza Stark Gene: yap1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.30 YAP1 Zornitza Stark gene: YAP1 was added
gene: YAP1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: YAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: YAP1 were set to Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433
Review for gene: YAP1 was set to GREEN
Added comment: Coloboma is part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.29 SMO Zornitza Stark Marked gene: SMO as ready
Anophthalmia_Microphthalmia_Coloboma v0.29 SMO Zornitza Stark Gene: smo has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.29 SMO Zornitza Stark Classified gene: SMO as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.29 SMO Zornitza Stark Gene: smo has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.28 SMO Zornitza Stark gene: SMO was added
gene: SMO was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: SMO was set to Other
Phenotypes for gene: SMO were set to Curry-Jones syndrome, somatic mosaic, MIM#601707
Review for gene: SMO was set to GREEN
Added comment: Microphthalmia and coloboma are part of the phenotype of this somatic mosaic condition.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.27 SALL4 Zornitza Stark Marked gene: SALL4 as ready
Anophthalmia_Microphthalmia_Coloboma v0.27 SALL4 Zornitza Stark Gene: sall4 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.27 SALL4 Zornitza Stark Classified gene: SALL4 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.27 SALL4 Zornitza Stark Gene: sall4 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.26 SALL4 Zornitza Stark gene: SALL4 was added
gene: SALL4 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SALL4 were set to Duane-radial ray syndrome, MIM#607323
Review for gene: SALL4 was set to GREEN
Added comment: Microphthalmia and coloboma are part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.25 RPGRIP1L Zornitza Stark Marked gene: RPGRIP1L as ready
Anophthalmia_Microphthalmia_Coloboma v0.25 RPGRIP1L Zornitza Stark Gene: rpgrip1l has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.25 RPGRIP1L Zornitza Stark Classified gene: RPGRIP1L as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.25 RPGRIP1L Zornitza Stark Gene: rpgrip1l has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.24 RPGRIP1L Zornitza Stark gene: RPGRIP1L was added
gene: RPGRIP1L was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1L were set to COACH syndrome, MIM#216360
Review for gene: RPGRIP1L was set to GREEN
Added comment: Coloboma is part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.23 PUF60 Zornitza Stark Marked gene: PUF60 as ready
Anophthalmia_Microphthalmia_Coloboma v0.23 PUF60 Zornitza Stark Gene: puf60 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.23 PUF60 Zornitza Stark Classified gene: PUF60 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.23 PUF60 Zornitza Stark Gene: puf60 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.22 PUF60 Zornitza Stark gene: PUF60 was added
gene: PUF60 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PUF60 were set to Verheij syndrome, MIM#615583
Review for gene: PUF60 was set to GREEN
Added comment: Coloboma is part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.21 PORCN Zornitza Stark Marked gene: PORCN as ready
Anophthalmia_Microphthalmia_Coloboma v0.21 PORCN Zornitza Stark Gene: porcn has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.21 PORCN Zornitza Stark Classified gene: PORCN as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.21 PORCN Zornitza Stark Gene: porcn has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.20 PORCN Zornitza Stark gene: PORCN was added
gene: PORCN was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: PORCN was set to Other
Phenotypes for gene: PORCN were set to Focal dermal hypoplasia, MIM#305600
Review for gene: PORCN was set to GREEN
Added comment: Anophthalmia, microphthalmia and coloboma are part of the phenotype of this XLD condition.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.19 LRP2 Zornitza Stark Marked gene: LRP2 as ready
Anophthalmia_Microphthalmia_Coloboma v0.19 LRP2 Zornitza Stark Gene: lrp2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.19 LRP2 Zornitza Stark Classified gene: LRP2 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.19 LRP2 Zornitza Stark Gene: lrp2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.18 LRP2 Zornitza Stark gene: LRP2 was added
gene: LRP2 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, MIM#222448
Review for gene: LRP2 was set to GREEN
Added comment: Iris coloboma is part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.17 HMX1 Zornitza Stark Marked gene: HMX1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.17 HMX1 Zornitza Stark Gene: hmx1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.17 HMX1 Zornitza Stark Classified gene: HMX1 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.17 HMX1 Zornitza Stark Gene: hmx1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.16 HMX1 Zornitza Stark gene: HMX1 was added
gene: HMX1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: HMX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMX1 were set to Oculoauricular syndrome, MIM#612109
Review for gene: HMX1 was set to GREEN
Added comment: Microphthalmia and ocular coloboma are part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.15 CLDN19 Zornitza Stark Marked gene: CLDN19 as ready
Anophthalmia_Microphthalmia_Coloboma v0.15 CLDN19 Zornitza Stark Gene: cldn19 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.15 CLDN19 Zornitza Stark Classified gene: CLDN19 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.15 CLDN19 Zornitza Stark Gene: cldn19 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.14 CLDN19 Zornitza Stark gene: CLDN19 was added
gene: CLDN19 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN19 were set to Hypomagnesemia 5, renal, with ocular involvement, MIM#248190
Review for gene: CLDN19 was set to GREEN
Added comment: Macular coloboma is part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.13 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
Anophthalmia_Microphthalmia_Coloboma v0.13 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.13 CC2D2A Zornitza Stark Classified gene: CC2D2A as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.13 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.12 CC2D2A Zornitza Stark gene: CC2D2A was added
gene: CC2D2A was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D2A were set to COACH syndrome, MIM#216360
Review for gene: CC2D2A was set to GREEN
Added comment: Ocular coloboma is part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.11 C12orf57 Zornitza Stark Marked gene: C12orf57 as ready
Anophthalmia_Microphthalmia_Coloboma v0.11 C12orf57 Zornitza Stark Gene: c12orf57 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.11 C12orf57 Zornitza Stark Classified gene: C12orf57 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.11 C12orf57 Zornitza Stark Gene: c12orf57 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.10 C12orf57 Zornitza Stark gene: C12orf57 was added
gene: C12orf57 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C12orf57 were set to Temtamy syndrome, MIM#218340
Review for gene: C12orf57 was set to GREEN
Added comment: Ocular coloboma is part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.9 B3GLCT Zornitza Stark Marked gene: B3GLCT as ready
Anophthalmia_Microphthalmia_Coloboma v0.9 B3GLCT Zornitza Stark Gene: b3glct has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.9 B3GLCT Zornitza Stark Classified gene: B3GLCT as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.9 B3GLCT Zornitza Stark Gene: b3glct has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.8 B3GLCT Zornitza Stark gene: B3GLCT was added
gene: B3GLCT was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GLCT were set to Peters-plus syndrome, MIM#261540
Review for gene: B3GLCT was set to GREEN
Added comment: Retinal coloboma is part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.7 ACTG1 Zornitza Stark Marked gene: ACTG1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.7 ACTG1 Zornitza Stark Gene: actg1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.7 ACTG1 Zornitza Stark Classified gene: ACTG1 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.7 ACTG1 Zornitza Stark Gene: actg1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.6 ACTG1 Zornitza Stark gene: ACTG1 was added
gene: ACTG1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTG1 were set to Baraitser-Winter syndrome 2, MIM#614583
Review for gene: ACTG1 was set to GREEN
Added comment: Microphthalmia and coloboma are part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.5 ACTB Zornitza Stark Marked gene: ACTB as ready
Anophthalmia_Microphthalmia_Coloboma v0.5 ACTB Zornitza Stark Gene: actb has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.5 ACTB Zornitza Stark Classified gene: ACTB as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.5 ACTB Zornitza Stark Gene: actb has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.4 ACTB Zornitza Stark gene: ACTB was added
gene: ACTB was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTB were set to Baraitser-Winter syndrome 1, MIM#243310
Review for gene: ACTB was set to GREEN
Added comment: Iris coloboma is part of the phenotype.
Sources: Expert list
Retinitis pigmentosa_Autosomal Dominant v0.0 TOPORS Bryony Thompson gene: TOPORS was added
gene: TOPORS was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TOPORS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TOPORS were set to Retinitis pigmentosa 31, 609923
Retinitis pigmentosa_Autosomal Dominant v0.0 SPP2 Bryony Thompson gene: SPP2 was added
gene: SPP2 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: SPP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPP2 were set to 26459573
Phenotypes for gene: SPP2 were set to Autosomal dominant retinitis pigmentosa
Retinitis pigmentosa_Autosomal Dominant v0.0 SNRNP200 Bryony Thompson gene: SNRNP200 was added
gene: SNRNP200 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SNRNP200 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SNRNP200 were set to Retinitis pigmentosa 33, 610359
Retinitis pigmentosa_Autosomal Dominant v0.0 SEMA4A Bryony Thompson gene: SEMA4A was added
gene: SEMA4A was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SEMA4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SEMA4A were set to Cone-rod dystrophy 10, 610283; Retinitis pigmentosa 35, 610282
Retinitis pigmentosa_Autosomal Dominant v0.0 SAG Bryony Thompson gene: SAG was added
gene: SAG was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SAG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SAG were set to 28549094
Phenotypes for gene: SAG were set to Oguchi disease - 1; Oguchi Disease; Retinitis pigmentosa 47
Retinitis pigmentosa_Autosomal Dominant v0.0 RPE65 Bryony Thompson gene: RPE65 was added
gene: RPE65 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RPE65 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RPE65 were set to Retinitis pigmentosa 20; Leber congenital amaurosis 2, 204100
Retinitis pigmentosa_Autosomal Dominant v0.0 RP9 Bryony Thompson gene: RP9 was added
gene: RP9 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RP9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RP9 were set to Retinitis pigmentosa 9, 180104
Retinitis pigmentosa_Autosomal Dominant v0.0 RP1 Bryony Thompson gene: RP1 was added
gene: RP1 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RP1 were set to Retinitis pigmentosa 1, 180100
Retinitis pigmentosa_Autosomal Dominant v0.0 ROM1 Bryony Thompson gene: ROM1 was added
gene: ROM1 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ROM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ROM1 were set to Retinitis pigmentosa 7, digenic, 608133
Retinitis pigmentosa_Autosomal Dominant v0.0 RHO Bryony Thompson gene: RHO was added
gene: RHO was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RHO was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RHO were set to Retinitis pigmentosa 4, autosomal dominant or recessive, 613731; Congenital Stationary Night Blindness
Retinitis pigmentosa_Autosomal Dominant v0.0 RDH12 Bryony Thompson gene: RDH12 was added
gene: RDH12 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RDH12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RDH12 were set to Leber congenital amaurosis 13, 612712; Retinitis Pigmentosa
Retinitis pigmentosa_Autosomal Dominant v0.0 PRPH2 Bryony Thompson gene: PRPH2 was added
gene: PRPH2 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRPH2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PRPH2 were set to Retinitis pigmentosa 7
Retinitis pigmentosa_Autosomal Dominant v0.0 PRPF8 Bryony Thompson gene: PRPF8 was added
gene: PRPF8 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRPF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRPF8 were set to Retinitis pigmentosa 13, 600059
Retinitis pigmentosa_Autosomal Dominant v0.0 PRPF6 Bryony Thompson gene: PRPF6 was added
gene: PRPF6 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRPF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRPF6 were set to Retinitis pigmentosa 60, 613983
Retinitis pigmentosa_Autosomal Dominant v0.0 PRPF4 Bryony Thompson gene: PRPF4 was added
gene: PRPF4 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRPF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRPF4 were set to Retinitis pigmentosa 70
Retinitis pigmentosa_Autosomal Dominant v0.0 PRPF31 Bryony Thompson gene: PRPF31 was added
gene: PRPF31 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRPF31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRPF31 were set to Retinitis pigmentosa 11, 600138
Retinitis pigmentosa_Autosomal Dominant v0.0 PRPF3 Bryony Thompson gene: PRPF3 was added
gene: PRPF3 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRPF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRPF3 were set to Retinitis pigmentosa 18
Retinitis pigmentosa_Autosomal Dominant v0.0 PITPNM3 Bryony Thompson gene: PITPNM3 was added
gene: PITPNM3 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: PITPNM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PITPNM3 were set to 22405330; 17377520
Phenotypes for gene: PITPNM3 were set to Cone-rod dystrophy 5, 600977
Retinitis pigmentosa_Autosomal Dominant v0.0 PDE6B Bryony Thompson gene: PDE6B was added
gene: PDE6B was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PDE6B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PDE6B were set to Night blindness, congenital stationary, autosomal dominant 2, 163500; Retinitis pigmentosa 40
Retinitis pigmentosa_Autosomal Dominant v0.0 NRL Bryony Thompson gene: NRL was added
gene: NRL was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NRL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: NRL were set to Retinitis pigmentosa 27, 613750
Retinitis pigmentosa_Autosomal Dominant v0.0 NR2E3 Bryony Thompson gene: NR2E3 was added
gene: NR2E3 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NR2E3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: NR2E3 were set to Enhanced S - cone syndrome (AR); Retinitis pigmentosa 37 (AD and AR)
Retinitis pigmentosa_Autosomal Dominant v0.0 KLHL7 Bryony Thompson gene: KLHL7 was added
gene: KLHL7 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KLHL7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KLHL7 were set to Retinitis pigmentosa 42, 612943
Retinitis pigmentosa_Autosomal Dominant v0.0 IMPDH1 Bryony Thompson gene: IMPDH1 was added
gene: IMPDH1 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: IMPDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: IMPDH1 were set to Retinitis pigmentosa 10, 180105; Leber Congenital Amaurosis; Leber congenital amaurosis 11
Retinitis pigmentosa_Autosomal Dominant v0.0 HK1 Bryony Thompson gene: HK1 was added
gene: HK1 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HK1 were set to Retinitis pigmentosa 79 617460
Retinitis pigmentosa_Autosomal Dominant v0.0 GUCA1B Bryony Thompson gene: GUCA1B was added
gene: GUCA1B was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GUCA1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GUCA1B were set to Retinitis pigmentosa 48, 613827
Retinitis pigmentosa_Autosomal Dominant v0.0 FSCN2 Bryony Thompson gene: FSCN2 was added
gene: FSCN2 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Red
Mode of inheritance for gene: FSCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FSCN2 were set to 16043865; 18450588
Phenotypes for gene: FSCN2 were set to Retinitis pigmentosa 30, 607921
Retinitis pigmentosa_Autosomal Dominant v0.0 CRX Bryony Thompson gene: CRX was added
gene: CRX was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CRX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRX were set to Cone-rod retinal dystrophy-2, 120970; Leber congenital amaurosis 7, 613829
Retinitis pigmentosa_Autosomal Dominant v0.0 CRB1 Bryony Thompson gene: CRB1 was added
gene: CRB1 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CRB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CRB1 were set to Pigmented paravenous chorioretinal atrophy, 172870; Leber congenital amaurosis 8, 613835; Retinitis pigmentosa-12, autosomal recessive, 600105
Retinitis pigmentosa_Autosomal Dominant v0.0 CA4 Bryony Thompson gene: CA4 was added
gene: CA4 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CA4 were set to Retinitis pigmentosa 17, 600852
Retinitis pigmentosa_Autosomal Dominant v0.0 C1QTNF5 Bryony Thompson gene: C1QTNF5 was added
gene: C1QTNF5 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: C1QTNF5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: C1QTNF5 were set to Retinitis pigmentosa; Retinal degeneration, late-onset, autosomal dominant, 605670
Retinitis pigmentosa_Autosomal Dominant v0.0 BEST1 Bryony Thompson gene: BEST1 was added
gene: BEST1 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: BEST1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: BEST1 were set to Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1; Maculopathy, bull's-eye; Best Vitelliform Macular Dystrophy; Best macular dystrophy, 153700; Vitreoretinochoroidopathy, 193220; Retinitis pigmentosa; Retinitis Pigmentosa, Recessive; Bestrophinopathy, 611809; Vitelliform macular dystrophy, adult-onset, 608161
Retinitis pigmentosa_Autosomal Dominant v0.0 ARL3 Bryony Thompson gene: ARL3 was added
gene: ARL3 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ARL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ARL3 were set to 26936825; 16565502; 26964041; 26814127; 30932721; 30269812
Phenotypes for gene: ARL3 were set to Retinitis pigmentosa 83; Joubert syndrome 35
Retinitis pigmentosa_Autosomal Dominant v0.0 ADIPOR1 Bryony Thompson gene: ADIPOR1 was added
gene: ADIPOR1 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: ADIPOR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ADIPOR1 were set to 26662040; 25736573; 30254279; 27655171
Phenotypes for gene: ADIPOR1 were set to syndromic retinitis pigmentosa; non-syndromic autosomal dominant retinitis pigmentosa
Retinitis pigmentosa_Autosomal Dominant v0.0 Bryony Thompson Added panel Autosomal Dominant Retinitis Pigmentosa_RMH
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 ZNF513 Bryony Thompson gene: ZNF513 was added
gene: ZNF513 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ZNF513 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNF513 were set to Retinitis pigmentosa 58, 613617
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 ZNF408 Bryony Thompson gene: ZNF408 was added
gene: ZNF408 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ZNF408 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ZNF408 were set to Retinitis pigmentosa 72; Familial exudative vitreoretinopathy (FEVR)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 ZFYVE26 Bryony Thompson gene: ZFYVE26 was added
gene: ZFYVE26 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFYVE26 were set to 18394578
Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 USH2A Bryony Thompson gene: USH2A was added
gene: USH2A was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: USH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH2A were set to Retinitis pigmentosa 39, 613809; Usher syndrome, type 2A, 276901
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 USH1C Bryony Thompson gene: USH1C was added
gene: USH1C was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: USH1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH1C were set to Usher syndrome, type 1C
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 TULP1 Bryony Thompson gene: TULP1 was added
gene: TULP1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TULP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TULP1 were set to Leber congenital amaurosis 15, 613843; Retinitis pigmentosa 14, 600132
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 TTC8 Bryony Thompson gene: TTC8 was added
gene: TTC8 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC8 were set to Retinitis pigmentosa 51, 613464; Bardet-Biedl syndrome 8, 209900
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 TRNT1 Bryony Thompson gene: TRNT1 was added
gene: TRNT1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRNT1 were set to Retinitis pigmentosa and erythrocytic microcytosis
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 SPATA7 Bryony Thompson gene: SPATA7 was added
gene: SPATA7 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SPATA7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPATA7 were set to Leber Congenital Amaurosis; Retinitis pigmentosa, juvenile, autosomal recessive, 604232; Leber congenital amaurosis 3
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 SLC7A14 Bryony Thompson gene: SLC7A14 was added
gene: SLC7A14 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: SLC7A14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC7A14 were set to 27028480; 24670872
Phenotypes for gene: SLC7A14 were set to Retinitis pigmentosa 68, 615725 (3)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 SEMA4A Bryony Thompson gene: SEMA4A was added
gene: SEMA4A was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SEMA4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SEMA4A were set to Cone-rod dystrophy 10, 610283; Retinitis pigmentosa 35, 610282
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 SAMD11 Bryony Thompson gene: SAMD11 was added
gene: SAMD11 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: SAMD11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SAMD11 were set to 27734943
Phenotypes for gene: SAMD11 were set to Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 SAG Bryony Thompson gene: SAG was added
gene: SAG was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SAG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAG were set to Oguchi disease-1, 258100; Retinitis pigmentosa 47
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 RPGRIP1 Bryony Thompson gene: RPGRIP1 was added
gene: RPGRIP1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1 were set to Leber congenital amaurosis 6, 613826; Cone-rod dystrophy 13, 608194
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 RPGR Bryony Thompson gene: RPGR was added
gene: RPGR was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RPGR was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: RPGR were set to Cone-rod dystrophy, X-linked, 1, 304020; Macular degeneration, X-linked atrophic, 300834; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455; Retinitis pigmentosa 3, 300029
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 RPE65 Bryony Thompson gene: RPE65 was added
gene: RPE65 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPE65 were set to Retinitis pigmentosa 20; Leber congenital amaurosis 2, 204100
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 RP2 Bryony Thompson gene: RP2 was added
gene: RP2 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RP2 were set to Retinitis Pigmentosa, X-linked; Retinitis pigmentosa 2, 312600
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 RP1L1 Bryony Thompson gene: RP1L1 was added
gene: RP1L1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RP1L1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RP1L1 were set to 31833436; 31236346; 30025130
Phenotypes for gene: RP1L1 were set to retinitis pigmentosa; Occult macular dystrophy, 613587
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 RP1 Bryony Thompson gene: RP1 was added
gene: RP1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RP1 were set to Retinitis pigmentosa 1, 180100
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 RLBP1 Bryony Thompson gene: RLBP1 was added
gene: RLBP1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RLBP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RLBP1 were set to Retinitis punctata albescens; Newfoundland rod - cone dystrophy; Fundus albipunctatus, 136880; Fundus albipunctatus; Bothnia retinal dystrophy
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 RHO Bryony Thompson gene: RHO was added
gene: RHO was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RHO was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RHO were set to Retinitis pigmentosa 4, autosomal dominant or recessive, 613731; Retinitis punctata albescens; Congenital Stationary Night Blindness
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 RGR Bryony Thompson gene: RGR was added
gene: RGR was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RGR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RGR were set to Retinitis pigmentosa 44, 613769
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 REEP6 Bryony Thompson gene: REEP6 was added
gene: REEP6 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: REEP6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: REEP6 were set to Retinitis pigmentosa 77
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 RDH12 Bryony Thompson gene: RDH12 was added
gene: RDH12 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RDH12 were set to Leber congenital amaurosis 13, 612712; Retinitis Pigmentosa, Recessive
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 RD3 Bryony Thompson gene: RD3 was added
gene: RD3 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RD3 were set to Leber congenital amaurosis 12, 610612
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 RBP3 Bryony Thompson gene: RBP3 was added
gene: RBP3 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBP3 were set to 19074801; 25766589; 19357286; 9614228
Phenotypes for gene: RBP3 were set to Retinitis pigmentosa 66, 615233
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 PROM1 Bryony Thompson gene: PROM1 was added
gene: PROM1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PROM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PROM1 were set to Stargardt disease 4, 603786; Macular dystrophy, retinal, 2, 608051; Retinitis pigmentosa 41, 612095; Cone-rod dystrophy 12, 612657
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 PRCD Bryony Thompson gene: PRCD was added
gene: PRCD was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRCD were set to Retinitis pigmentosa 36, 610599
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 POMGNT1 Bryony Thompson gene: POMGNT1 was added
gene: POMGNT1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT1 were set to Retinitis pigmentosa 76
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 PMPCA Bryony Thompson gene: PMPCA was added
gene: PMPCA was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Red
Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMPCA were set to Spinocerebellar ataxia, autosomal recessive 2
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 PLA2G5 Bryony Thompson gene: PLA2G5 was added
gene: PLA2G5 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Red
Mode of inheritance for gene: PLA2G5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLA2G5 were set to Fleck retina, familial benign
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 PHYH Bryony Thompson gene: PHYH was added
gene: PHYH was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHYH were set to Refsum disease
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 PEX7 Bryony Thompson gene: PEX7 was added
gene: PEX7 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to Refsum disease
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 PDE6G Bryony Thompson gene: PDE6G was added
gene: PDE6G was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PDE6G was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDE6G were set to Retinitis pigmentosa 57, 613582
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 PDE6B Bryony Thompson gene: PDE6B was added
gene: PDE6B was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PDE6B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PDE6B were set to Retinitis pigmentosa 40; Night blindness, congenital stationary, autosomal dominant 2
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 PDE6A Bryony Thompson gene: PDE6A was added
gene: PDE6A was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PDE6A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDE6A were set to Retinitis pigmentosa 43, 613810
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 C2orf71 Bryony Thompson gene: C2orf71 was added
gene: C2orf71 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: C2orf71 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C2orf71 were set to Retinitis pigmentosa 54
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 OFD1 Bryony Thompson gene: OFD1 was added
gene: OFD1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OFD1 were set to 28191358; 22619378; 29843741
Phenotypes for gene: OFD1 were set to Retinitis pigmentosa 23, 300424; Joubert syndrome 10, 300804; Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 OAT Bryony Thompson gene: OAT was added
gene: OAT was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 NRL Bryony Thompson gene: NRL was added
gene: NRL was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NRL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: NRL were set to Retinitis pigmentosa 27 (AD); Retinal degeneration, autosomal recessive, clumped pigment type (AR)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 NR2E3 Bryony Thompson gene: NR2E3 was added
gene: NR2E3 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NR2E3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: NR2E3 were set to Enhanced S - cone syndrome (AR); Retinitis pigmentosa 37 (AD and AR)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 NEUROD1 Bryony Thompson gene: NEUROD1 was added
gene: NEUROD1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NEUROD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEUROD1 were set to 25477324; 29521454; 25684977
Phenotypes for gene: NEUROD1 were set to ?retinitis pigmentosa; neonatal diabetes, systematic neurological abnormalities, and early-onset retinal dystrophy
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 NEK2 Bryony Thompson gene: NEK2 was added
gene: NEK2 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: NEK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK2 were set to 24043777
Phenotypes for gene: NEK2 were set to ?Retinitis pigmentosa 67, 615565
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 MVK Bryony Thompson gene: MVK was added
gene: MVK was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MVK were set to Mevalonic aciduria; Hyper-IgD syndrome
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 MFRP Bryony Thompson gene: MFRP was added
gene: MFRP was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MFRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFRP were set to Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 MERTK Bryony Thompson gene: MERTK was added
gene: MERTK was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MERTK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MERTK were set to childhood onset rod-cone dystrophy with early macular atrophy; Leber congenital amaurosisRetinitis pigmentosa 38, 613862
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 MAK Bryony Thompson gene: MAK was added
gene: MAK was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MAK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAK were set to Retinitis pigmentosa 62, 614181
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 LRAT Bryony Thompson gene: LRAT was added
gene: LRAT was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LRAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRAT were set to Leber Congenital Amaurosis; Leber congenital amaurosis 14; Retinitis pigmentosa, juvenile; Retinal dystrophy, early-onset severe, 613341
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 LCA5 Bryony Thompson gene: LCA5 was added
gene: LCA5 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LCA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LCA5 were set to Leber congenital amaurosis 5, 604537
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 KIZ Bryony Thompson gene: KIZ was added
gene: KIZ was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KIZ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIZ were set to Retinitis pigmentosa 69
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 KIAA1549 Bryony Thompson gene: KIAA1549 was added
gene: KIAA1549 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KIAA1549 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIAA1549 were set to Retinitis pigmentosa 86
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 IMPG2 Bryony Thompson gene: IMPG2 was added
gene: IMPG2 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: IMPG2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: IMPG2 were set to Retinitis pigmentosa 56, 613581; Maculopathy, IMPG2 - related; Retinitis pigmentosa
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 IFT172 Bryony Thompson gene: IFT172 was added
gene: IFT172 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT172 were set to Retinitis pigmentosa 71
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 IFT140 Bryony Thompson gene: IFT140 was added
gene: IFT140 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT140 were set to Retinitis pigmentosa 80
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 IDH3B Bryony Thompson gene: IDH3B was added
gene: IDH3B was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: IDH3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IDH3B were set to Retinitis pigmentosa 46, 612572
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 HGSNAT Bryony Thompson gene: HGSNAT was added
gene: HGSNAT was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HGSNAT were set to Retinitis pigmentosa 73
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 GUCY2D Bryony Thompson gene: GUCY2D was added
gene: GUCY2D was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GUCY2D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GUCY2D were set to Achromatopsia, Cone, and Cone-rod Dystrophy; Cone-rod dystrophy 6 (AD); Leber congenital amaurosis 1, 204000; Retinitis pigmentosa
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 FLVCR1 Bryony Thompson gene: FLVCR1 was added
gene: FLVCR1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLVCR1 were set to Ataxia, posterior column, with retinitis pigmentosa, 609033
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 FAM161A Bryony Thompson gene: FAM161A was added
gene: FAM161A was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FAM161A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM161A were set to Retinitis pigmentosa 28, 606068
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 EYS Bryony Thompson gene: EYS was added
gene: EYS was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EYS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EYS were set to Retinitis pigmentosa 25, 602772
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 EMC1 Bryony Thompson gene: EMC1 was added
gene: EMC1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: EMC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMC1 were set to 29271071; 23105016
Phenotypes for gene: EMC1 were set to ?Retinitis pigmentosa; Cerebellar atrophy, visual impairment, and psychomotor retardation
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 DHX38 Bryony Thompson gene: DHX38 was added
gene: DHX38 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DHX38 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHX38 were set to Retinitis pigmentosa 84, 618220
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 DHDDS Bryony Thompson gene: DHDDS was added
gene: DHDDS was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DHDDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHDDS were set to Retinitis pigmentosa 59, 613861
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 CYP4V2 Bryony Thompson gene: CYP4V2 was added
gene: CYP4V2 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CYP4V2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP4V2 were set to Retinitis pigmentosa; Bietti crystalline corneoretinal dystrophy, 210370
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 CWC27 Bryony Thompson gene: CWC27 was added
gene: CWC27 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CWC27 were set to Retinitis pigmentosa with or without skeletal anomalies, 250410
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 CRB1 Bryony Thompson gene: CRB1 was added
gene: CRB1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CRB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRB1 were set to Pigmented paravenous chorioretinal atrophy, 172870; Leber congenital amaurosis 8, 613835; Retinitis pigmentosa-12, autosomal recessive, 600105
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 CNGB1 Bryony Thompson gene: CNGB1 was added
gene: CNGB1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CNGB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNGB1 were set to Retinitis pigmentosa 45, 613767
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 CNGA1 Bryony Thompson gene: CNGA1 was added
gene: CNGA1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CNGA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CNGA1 were set to Retinitis pigmentosa 49, 613756
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 CLRN1 Bryony Thompson gene: CLRN1 was added
gene: CLRN1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CLRN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLRN1 were set to Retinitis pigmentosa 61, 614180
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 CLN3 Bryony Thompson gene: CLN3 was added
gene: CLN3 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN3 were set to Retinitis pigmentosa; Juvenile neuronal ceroid lipofuscinosis
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 CLCC1 Bryony Thompson gene: CLCC1 was added
gene: CLCC1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CLCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLCC1 were set to 30157172
Phenotypes for gene: CLCC1 were set to Retinitis pigmentosa 32
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 CHM Bryony Thompson gene: CHM was added
gene: CHM was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: CHM were set to Retinitis pigmentosa; Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 CERKL Bryony Thompson gene: CERKL was added
gene: CERKL was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CERKL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CERKL were set to Retinitis pigmentosa 26, 608380
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 CEP290 Bryony Thompson gene: CEP290 was added
gene: CEP290 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to Senior-Loken syndrome 6, 610189; Meckel syndrome 4, 611134; Leber congenital amaurosis 10, 611755; Joubert syndrome 5, 610188; Bardet-Biedl syndrome 14, 209900
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 CDHR1 Bryony Thompson gene: CDHR1 was added
gene: CDHR1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CDHR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDHR1 were set to Achromatopsia, Cone, and Cone-rod Dystrophy; Cone-Rod Dystrophy, Recessive; Retinitis pigmentosa 65; Cone-rod dystrophy 15, 613660
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 C8orf37 Bryony Thompson gene: C8orf37 was added
gene: C8orf37 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C8orf37 were set to Achromatopsia, Cone, and Cone-rod Dystrophy; Retinitis pigmentosa 64, 614500
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 BEST1 Bryony Thompson gene: BEST1 was added
gene: BEST1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: BEST1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: BEST1 were set to Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1; Maculopathy, bull's-eye; Best Vitelliform Macular Dystrophy; Best macular dystrophy, 153700; Vitreoretinochoroidopathy, 193220; Retinitis pigmentosa; Retinitis Pigmentosa, Recessive; Bestrophinopathy, 611809; Vitelliform macular dystrophy, adult-onset, 608161
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 BBS2 Bryony Thompson gene: BBS2 was added
gene: BBS2 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to Bardet-Biedl syndrome 2; Retinitis pigmentosa 74
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 BBS1 Bryony Thompson gene: BBS1 was added
gene: BBS1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS1 were set to Retinitis pigmentosa
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 ARL6 Bryony Thompson gene: ARL6 was added
gene: ARL6 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL6 were set to Retinitis pigmentosa 55, 613575; Bardet-Biedl syndrome 3, 209900
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 ARL2BP Bryony Thompson gene: ARL2BP was added
gene: ARL2BP was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ARL2BP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL2BP were set to Retinitis pigmentosa with or without situs inversus, 615434
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 ARHGEF18 Bryony Thompson gene: ARHGEF18 was added
gene: ARHGEF18 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ARHGEF18 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARHGEF18 were set to Retinitis pigmentosa 78 617433
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 AIPL1 Bryony Thompson gene: AIPL1 was added
gene: AIPL1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AIPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AIPL1 were set to Retinitis pigmentosa, juvenile; Leber congenital amaurosis 4; Cone-rod dystrophy
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 AHR Bryony Thompson gene: AHR was added
gene: AHR was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AHR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHR were set to 29726989
Phenotypes for gene: AHR were set to ?Retinitis pigmentosa 85
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 AHI1 Bryony Thompson gene: AHI1 was added
gene: AHI1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHI1 were set to Joubert syndrome 17
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 AGBL5 Bryony Thompson gene: AGBL5 was added
gene: AGBL5 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AGBL5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGBL5 were set to Retinitis pigmentosa 75 617023
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 ADGRA3 Bryony Thompson gene: ADGRA3 was added
gene: ADGRA3 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Red
Mode of inheritance for gene: ADGRA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADGRA3 were set to 23105016
Phenotypes for gene: ADGRA3 were set to retinal dystrophy
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 ABHD12 Bryony Thompson gene: ABHD12 was added
gene: ABHD12 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD12 were set to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 ABCA4 Bryony Thompson gene: ABCA4 was added
gene: ABCA4 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA4 were set to Macular Degeneration (Dominant); Stargardt disease 1, 248200; Macular degeneration, age-related, 2, 153800; Achromatopsia, Cone, and Cone-rod Dystrophy; Retinal dystrophy, early-onset severe, 248200; Stargardt Disease, Recessive; Retinitis pigmentosa 19, 601718; Cone-rod dystrophy 3, 604116; Macular Dystrophy/Degeneration/Stargardt Disease; Fundus flavimaculatus, 248200
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 ARL3 Bryony Thompson gene: ARL3 was added
gene: ARL3 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ARL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ARL3 were set to 26936825; 16565502; 26964041; 26814127; 30932721; 30269812
Phenotypes for gene: ARL3 were set to Retinitis pigmentosa 83; Joubert syndrome 35
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 ADIPOR1 Bryony Thompson gene: ADIPOR1 was added
gene: ADIPOR1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: ADIPOR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ADIPOR1 were set to 26662040; 25736573; 30254279; 27655171
Phenotypes for gene: ADIPOR1 were set to syndromic retinitis pigmentosa; non-syndromic autosomal dominant retinitis pigmentosa
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 Bryony Thompson Added panel Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH
Mendeliome v0.414 INSRR Zornitza Stark Marked gene: INSRR as ready
Mendeliome v0.414 INSRR Zornitza Stark Gene: insrr has been classified as Red List (Low Evidence).
Mendeliome v0.414 INSRR Zornitza Stark Classified gene: INSRR as Red List (low evidence)
Mendeliome v0.414 INSRR Zornitza Stark Added comment: Comment on list classification: Agreed, cannot find evidence for Mendelian gene-disease association.
Mendeliome v0.414 INSRR Zornitza Stark Gene: insrr has been classified as Red List (Low Evidence).
Mendeliome v0.413 INSRR Lauren Akesson reviewed gene: INSRR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.413 GRIK5 Zornitza Stark Marked gene: GRIK5 as ready
Mendeliome v0.413 GRIK5 Zornitza Stark Gene: grik5 has been classified as Red List (Low Evidence).
Mendeliome v0.413 GRIK5 Zornitza Stark Classified gene: GRIK5 as Red List (low evidence)
Mendeliome v0.413 GRIK5 Zornitza Stark Added comment: Comment on list classification: Agreed, cannot find evidence for Mendelian gene-disease association.
Mendeliome v0.413 GRIK5 Zornitza Stark Gene: grik5 has been classified as Red List (Low Evidence).
Mendeliome v0.412 GRIK5 Crystle Lee reviewed gene: GRIK5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Proteinuria v0.62 MAGI2 Zornitza Stark Marked gene: MAGI2 as ready
Proteinuria v0.62 MAGI2 Zornitza Stark Gene: magi2 has been classified as Green List (High Evidence).
Proteinuria v0.62 MAGI2 Zornitza Stark Phenotypes for gene: MAGI2 were changed from to Nephrotic syndrome, type 15, MIM# 617609
Proteinuria v0.61 MAGI2 Zornitza Stark Publications for gene: MAGI2 were set to
Proteinuria v0.60 MAGI2 Zornitza Stark Mode of inheritance for gene: MAGI2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.59 MAGI2 Zornitza Stark reviewed gene: MAGI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27932480, 25271328, 25108225; Phenotypes: Nephrotic syndrome, type 15, MIM# 617609; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.8 CD151 Zornitza Stark Marked gene: CD151 as ready
Deafness_IsolatedAndComplex v0.8 CD151 Zornitza Stark Gene: cd151 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.8 CD151 Zornitza Stark Classified gene: CD151 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.8 CD151 Zornitza Stark Gene: cd151 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.7 CD151 Zornitza Stark gene: CD151 was added
gene: CD151 was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: CD151 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD151 were set to 15265795; 29138120
Phenotypes for gene: CD151 were set to Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057
Review for gene: CD151 was set to GREEN
Added comment: Three families described in the literature.
Sources: Literature
Epidermolysis bullosa v0.3 CD151 Zornitza Stark Marked gene: CD151 as ready
Epidermolysis bullosa v0.3 CD151 Zornitza Stark Gene: cd151 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.3 CD151 Zornitza Stark Classified gene: CD151 as Green List (high evidence)
Epidermolysis bullosa v0.3 CD151 Zornitza Stark Gene: cd151 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.2 CD151 Zornitza Stark gene: CD151 was added
gene: CD151 was added to Epidermolysis bullosa_VCGS. Sources: Literature
Mode of inheritance for gene: CD151 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD151 were set to 15265795; 29138120
Phenotypes for gene: CD151 were set to Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057
Added comment: Three families described in the literature
Sources: Literature
Proteinuria v0.59 CD151 Zornitza Stark Marked gene: CD151 as ready
Proteinuria v0.59 CD151 Zornitza Stark Gene: cd151 has been classified as Green List (High Evidence).
Proteinuria v0.59 CD151 Zornitza Stark Classified gene: CD151 as Green List (high evidence)
Proteinuria v0.59 CD151 Zornitza Stark Gene: cd151 has been classified as Green List (High Evidence).
Proteinuria v0.58 CD151 Zornitza Stark gene: CD151 was added
gene: CD151 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: CD151 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD151 were set to 15265795; 29138120
Phenotypes for gene: CD151 were set to Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057
Review for gene: CD151 was set to GREEN
Added comment: Three families described in the literature.
Sources: Expert list
Renal Ciliopathies and Nephronophthisis v0.12 FAN1 Zornitza Stark Marked gene: FAN1 as ready
Renal Ciliopathies and Nephronophthisis v0.12 FAN1 Zornitza Stark Gene: fan1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.12 FAN1 Zornitza Stark Classified gene: FAN1 as Green List (high evidence)
Renal Ciliopathies and Nephronophthisis v0.12 FAN1 Zornitza Stark Gene: fan1 has been classified as Green List (High Evidence).
Mendeliome v0.412 TBC1D8B Zornitza Stark Marked gene: TBC1D8B as ready
Mendeliome v0.412 TBC1D8B Zornitza Stark Gene: tbc1d8b has been classified as Green List (High Evidence).
Mendeliome v0.412 TBC1D8B Zornitza Stark Phenotypes for gene: TBC1D8B were changed from to Nephrotic syndrome, type 20, MIM# 301028
Mendeliome v0.411 TBC1D8B Zornitza Stark Publications for gene: TBC1D8B were set to
Mendeliome v0.410 MPST Zornitza Stark Marked gene: MPST as ready
Mendeliome v0.410 MPST Zornitza Stark Gene: mpst has been classified as Red List (Low Evidence).
Mendeliome v0.410 MPST Zornitza Stark Classified gene: MPST as Red List (low evidence)
Mendeliome v0.410 MPST Zornitza Stark Gene: mpst has been classified as Red List (Low Evidence).
Mendeliome v0.409 MPST Belinda Chong reviewed gene: MPST: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.409 TBC1D8B Zornitza Stark Mode of inheritance for gene: TBC1D8B was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.408 TBC1D8B Zornitza Stark reviewed gene: TBC1D8B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30661770; Phenotypes: Nephrotic syndrome, type 20, MIM# 301028; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Proteinuria v0.57 TBC1D8B Zornitza Stark Phenotypes for gene: TBC1D8B were changed from to Nephrotic syndrome, type 20, MIM# 301028
Proteinuria v0.56 TBC1D8B Zornitza Stark Publications for gene: TBC1D8B were set to
Proteinuria v0.55 TBC1D8B Zornitza Stark Mode of inheritance for gene: TBC1D8B was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Proteinuria v0.54 TBC1D8B Belinda Chong reviewed gene: TBC1D8B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30661770; Phenotypes: Nephrotic syndrome, type 20, MIM# 301028; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.408 ANKRD17 Zornitza Stark Mode of inheritance for gene: ANKRD17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.407 TRIM24 Zornitza Stark Marked gene: TRIM24 as ready
Mendeliome v0.407 TRIM24 Zornitza Stark Gene: trim24 has been classified as Red List (Low Evidence).
Mendeliome v0.407 TRIM24 Zornitza Stark Classified gene: TRIM24 as Red List (low evidence)
Mendeliome v0.407 TRIM24 Zornitza Stark Gene: trim24 has been classified as Red List (Low Evidence).
Mendeliome v0.406 TRIM24 Belinda Chong reviewed gene: TRIM24: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.406 ARID5B Zornitza Stark Marked gene: ARID5B as ready
Mendeliome v0.406 ARID5B Zornitza Stark Gene: arid5b has been classified as Red List (Low Evidence).
Mendeliome v0.406 ARID5B Zornitza Stark Classified gene: ARID5B as Red List (low evidence)
Mendeliome v0.406 ARID5B Zornitza Stark Gene: arid5b has been classified as Red List (Low Evidence).
Mendeliome v0.405 ARID5B Belinda Chong reviewed gene: ARID5B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.405 MLX Zornitza Stark Marked gene: MLX as ready
Mendeliome v0.405 MLX Zornitza Stark Gene: mlx has been classified as Red List (Low Evidence).
Mendeliome v0.405 MLX Zornitza Stark Classified gene: MLX as Red List (low evidence)
Mendeliome v0.405 MLX Zornitza Stark Gene: mlx has been classified as Red List (Low Evidence).
Mendeliome v0.404 MLX Belinda Chong reviewed gene: MLX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.404 REV3L Zornitza Stark Marked gene: REV3L as ready
Mendeliome v0.404 REV3L Zornitza Stark Gene: rev3l has been classified as Green List (High Evidence).
Mendeliome v0.404 REV3L Zornitza Stark Phenotypes for gene: REV3L were changed from to Moebius syndrome
Mendeliome v0.403 REV3L Zornitza Stark Publications for gene: REV3L were set to
Mendeliome v0.402 REV3L Zornitza Stark Mode of inheritance for gene: REV3L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.401 REV3L Belinda Chong reviewed gene: REV3L: Rating: GREEN; Mode of pathogenicity: None; Publications: 26068067, 26068067; Phenotypes: Moebius syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.401 SELP Zornitza Stark Marked gene: SELP as ready
Mendeliome v0.401 SELP Zornitza Stark Gene: selp has been classified as Red List (Low Evidence).
Mendeliome v0.401 SELP Zornitza Stark Classified gene: SELP as Red List (low evidence)
Mendeliome v0.401 SELP Zornitza Stark Gene: selp has been classified as Red List (Low Evidence).
Mendeliome v0.400 SELP Belinda Chong reviewed gene: SELP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Epidermolysis bullosa v0.1 FLG2 Zornitza Stark Marked gene: FLG2 as ready
Epidermolysis bullosa v0.1 FLG2 Zornitza Stark Gene: flg2 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.1 FLG2 Zornitza Stark Classified gene: FLG2 as Green List (high evidence)
Epidermolysis bullosa v0.1 FLG2 Zornitza Stark Gene: flg2 has been classified as Green List (High Evidence).
Mendeliome v0.400 FLG2 Zornitza Stark Marked gene: FLG2 as ready
Mendeliome v0.400 FLG2 Zornitza Stark Gene: flg2 has been classified as Green List (High Evidence).
Mendeliome v0.400 FLG2 Zornitza Stark Classified gene: FLG2 as Green List (high evidence)
Mendeliome v0.400 FLG2 Zornitza Stark Gene: flg2 has been classified as Green List (High Evidence).
Mendeliome v0.399 FLG2 Zornitza Stark gene: FLG2 was added
gene: FLG2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: FLG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLG2 were set to 29758285; 28884927; 29505760
Phenotypes for gene: FLG2 were set to Peeling skin syndrome 6, MIM# 618084
Review for gene: FLG2 was set to GREEN
Added comment: 3 unrelated families reported.
Sources: Literature
Epidermolysis bullosa v0.0 FLG2 Belinda Chong gene: FLG2 was added
gene: FLG2 was added to Epidermolysis bullosa_VCGS. Sources: Literature
Mode of inheritance for gene: FLG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLG2 were set to 29758285; 28884927; 29505760
Phenotypes for gene: FLG2 were set to Peeling skin syndrome 6, MIM# 618084
Review for gene: FLG2 was set to GREEN
Added comment: 3 unrelated families reported
Sources: Literature
Ichthyosis v0.1 FLG2 Zornitza Stark Marked gene: FLG2 as ready
Ichthyosis v0.1 FLG2 Zornitza Stark Gene: flg2 has been classified as Green List (High Evidence).
Ichthyosis v0.1 FLG2 Zornitza Stark Classified gene: FLG2 as Green List (high evidence)
Ichthyosis v0.1 FLG2 Zornitza Stark Gene: flg2 has been classified as Green List (High Evidence).
Ichthyosis v0.0 FLG2 Belinda Chong gene: FLG2 was added
gene: FLG2 was added to Ichthyosis_VCGS. Sources: Literature
Mode of inheritance for gene: FLG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLG2 were set to 29758285; 28884927; 29505760
Phenotypes for gene: FLG2 were set to Peeling skin syndrome 6, MIM# 618084
Review for gene: FLG2 was set to GREEN
Added comment: 3 unrelated families reported
Sources: Literature
Mendeliome v0.398 NLRP2 Zornitza Stark Marked gene: NLRP2 as ready
Mendeliome v0.398 NLRP2 Zornitza Stark Gene: nlrp2 has been classified as Green List (High Evidence).
Mendeliome v0.398 NLRP2 Zornitza Stark Phenotypes for gene: NLRP2 were changed from to female infertility; early embryonic arrest
Mendeliome v0.397 NLRP2 Zornitza Stark Publications for gene: NLRP2 were set to
Mendeliome v0.396 NLRP2 Zornitza Stark Mode of inheritance for gene: NLRP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.395 NLRP2 Belinda Chong reviewed gene: NLRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30877238; Phenotypes: female infertility, early embryonic arrest; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Macrocystic Disease v0.13 SEC63 Chirag Patel changed review comment from: Very few renal cysts seen in patients. If this PLD gene is in the panel, then we should have all the PLD genes, where very occasional renal cysts can be seen.; to: Renal cysts not a key or common feature seen in these patients. If this PLD gene is in the panel, then we should have all the PLD genes, where very occasional renal cysts can be seen.
Renal Macrocystic Disease v0.13 SEC63 Zornitza Stark Classified gene: SEC63 as Red List (low evidence)
Renal Macrocystic Disease v0.13 SEC63 Zornitza Stark Added comment: Comment on list classification: Discussed with Chirag Patel: we should have a consistent approach to all liver cystic disease genes. Renal cysts are not a key feature, therefore Red for this panel.
Renal Macrocystic Disease v0.13 SEC63 Zornitza Stark Gene: sec63 has been classified as Red List (Low Evidence).
Renal Macrocystic Disease v0.12 SEC63 Chirag Patel reviewed gene: SEC63: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic liver disease 2, OMIM #617004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Ciliopathies and Nephronophthisis v0.11 Chirag Patel Panel name changed from Renal ciliopathies and nephronophthisis_KidGen to Renal ciliopathies and nephronophthisis_KidGen_VCGS
Callosome v0.46 TBC1D32 Zornitza Stark Marked gene: TBC1D32 as ready
Callosome v0.46 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Red List (Low Evidence).
Callosome v0.46 TBC1D32 Zornitza Stark Mode of inheritance for gene: TBC1D32 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.45 TBC1D32 Zornitza Stark Publications for gene: TBC1D32 were set to
Callosome v0.44 TBC1D32 Zornitza Stark Phenotypes for gene: TBC1D32 were changed from to Orofaciodigital syndrome type IX
Callosome v0.43 TBC1D32 Zornitza Stark Classified gene: TBC1D32 as Red List (low evidence)
Callosome v0.43 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Red List (Low Evidence).
Callosome v0.42 TBC1D32 Zornitza Stark reviewed gene: TBC1D32: Rating: RED; Mode of pathogenicity: None; Publications: 24285566; Phenotypes: Orofaciodigital syndrome type IX; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.395 TBC1D32 Zornitza Stark Marked gene: TBC1D32 as ready
Mendeliome v0.395 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Red List (Low Evidence).
Mendeliome v0.395 TBC1D32 Zornitza Stark Publications for gene: TBC1D32 were set to
Mendeliome v0.394 TBC1D32 Zornitza Stark Phenotypes for gene: TBC1D32 were changed from to Orofaciodigital syndrome type IX
Mendeliome v0.393 TBC1D32 Zornitza Stark Mode of inheritance for gene: TBC1D32 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.392 TBC1D32 Zornitza Stark Classified gene: TBC1D32 as Red List (low evidence)
Mendeliome v0.392 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Red List (Low Evidence).
Mendeliome v0.391 TBC1D32 Zornitza Stark reviewed gene: TBC1D32: Rating: RED; Mode of pathogenicity: None; Publications: 24285566; Phenotypes: Orofaciodigital syndrome type IX; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.11 TBC1D32 Zornitza Stark Marked gene: TBC1D32 as ready
Ciliopathies v0.11 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Red List (Low Evidence).
Ciliopathies v0.11 TBC1D32 Zornitza Stark Phenotypes for gene: TBC1D32 were changed from to Orofaciodigital syndrome type IX
Ciliopathies v0.10 TBC1D32 Zornitza Stark Publications for gene: TBC1D32 were set to
Ciliopathies v0.9 TBC1D32 Zornitza Stark Mode of inheritance for gene: TBC1D32 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.8 TBC1D32 Zornitza Stark Classified gene: TBC1D32 as Red List (low evidence)
Ciliopathies v0.8 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Red List (Low Evidence).
Ciliopathies v0.7 TBC1D32 Zornitza Stark reviewed gene: TBC1D32: Rating: RED; Mode of pathogenicity: None; Publications: 24285566; Phenotypes: Orofaciodigital syndrome type IX; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.7 SCLT1 Zornitza Stark Marked gene: SCLT1 as ready
Ciliopathies v0.7 SCLT1 Zornitza Stark Gene: sclt1 has been classified as Green List (High Evidence).
Ciliopathies v0.7 SCLT1 Zornitza Stark Phenotypes for gene: SCLT1 were changed from to Orofaciodigital syndrome type IX; Senior-Loken syndrome
Ciliopathies v0.6 SCLT1 Zornitza Stark Publications for gene: SCLT1 were set to
Ciliopathies v0.5 SCLT1 Zornitza Stark Mode of inheritance for gene: SCLT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.4 SCLT1 Zornitza Stark reviewed gene: SCLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28486600, 30425282, 30237576, 28005958, 24285566; Phenotypes: Orofaciodigital syndrome type IX, Senior-Loken syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.10 SCLT1 Zornitza Stark Marked gene: SCLT1 as ready
Renal Ciliopathies and Nephronophthisis v0.10 SCLT1 Zornitza Stark Gene: sclt1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.10 SCLT1 Zornitza Stark Classified gene: SCLT1 as Green List (high evidence)
Renal Ciliopathies and Nephronophthisis v0.10 SCLT1 Zornitza Stark Gene: sclt1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.9 SCLT1 Zornitza Stark gene: SCLT1 was added
gene: SCLT1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert list
Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCLT1 were set to 28486600; 30425282; 30237576; 28005958; 24285566
Phenotypes for gene: SCLT1 were set to Orofaciodigital syndrome type IX; Senior-Loken syndrome
Review for gene: SCLT1 was set to GREEN
Added comment: Reports of individual patients with overlapping features suggestive of ciliopathy, mouse model recapitulates phenotype.
Sources: Expert list
Renal Macrocystic Disease v0.12 SEC63 Zornitza Stark Marked gene: SEC63 as ready
Renal Macrocystic Disease v0.12 SEC63 Zornitza Stark Gene: sec63 has been classified as Green List (High Evidence).
Renal Macrocystic Disease v0.12 SEC63 Zornitza Stark Classified gene: SEC63 as Green List (high evidence)
Renal Macrocystic Disease v0.12 SEC63 Zornitza Stark Gene: sec63 has been classified as Green List (High Evidence).
Renal Macrocystic Disease v0.11 SEC63 Zornitza Stark gene: SEC63 was added
gene: SEC63 was added to Renal macrocystic disease_KidGen_VCGS. Sources: Expert list
Mode of inheritance for gene: SEC63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC63 were set to 15133510
Phenotypes for gene: SEC63 were set to Polycystic liver disease 2, MIM#617004
Review for gene: SEC63 was set to GREEN
Added comment: Renal cysts reported in some individuals; no significant renal impairment.
Sources: Expert list
Mendeliome v0.391 EXOC3L2 Zornitza Stark Marked gene: EXOC3L2 as ready
Mendeliome v0.391 EXOC3L2 Zornitza Stark Gene: exoc3l2 has been classified as Green List (High Evidence).
Mendeliome v0.391 EXOC3L2 Zornitza Stark Phenotypes for gene: EXOC3L2 were changed from to Dandy-Walker malformation; renal dysplasia; bone marrow failure
Mendeliome v0.390 EXOC3L2 Zornitza Stark Publications for gene: EXOC3L2 were set to
Mendeliome v0.389 EXOC3L2 Zornitza Stark Mode of inheritance for gene: EXOC3L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.4 EXOC3L2 Zornitza Stark Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation; renal dysplasia; bone marrow failure to Dandy-Walker malformation; renal dysplasia; bone marrow failure
Ciliopathies v0.3 EXOC3L2 Zornitza Stark Marked gene: EXOC3L2 as ready
Ciliopathies v0.3 EXOC3L2 Zornitza Stark Gene: exoc3l2 has been classified as Green List (High Evidence).
Ciliopathies v0.3 EXOC3L2 Zornitza Stark Phenotypes for gene: EXOC3L2 were changed from to Dandy-Walker malformation; renal dysplasia; bone marrow failure
Ciliopathies v0.2 EXOC3L2 Zornitza Stark Mode of inheritance for gene: EXOC3L2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.1 EXOC3L2 Zornitza Stark Publications for gene: EXOC3L2 were set to
Ciliopathies v0.1 EXOC3L2 Zornitza Stark Mode of inheritance for gene: EXOC3L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.30 EXOC3L2 Zornitza Stark Marked gene: EXOC3L2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.30 EXOC3L2 Zornitza Stark Gene: exoc3l2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.30 EXOC3L2 Zornitza Stark Classified gene: EXOC3L2 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.30 EXOC3L2 Zornitza Stark Gene: exoc3l2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.29 EXOC3L2 Zornitza Stark gene: EXOC3L2 was added
gene: EXOC3L2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Literature
Mode of inheritance for gene: EXOC3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC3L2 were set to 30327448; 28749478; 27894351
Phenotypes for gene: EXOC3L2 were set to Dandy-Walker malformation; renal dysplasia; bone marrow failure
Review for gene: EXOC3L2 was set to GREEN
Added comment: Four individuals from two unrelated families with brain, kidney and bone marrow abnormalities; another described as part of fetal autopsy series, and another in a ciliopathy cohort.
Sources: Literature
Atypical Haemolytic Uraemic Syndrome_MPGN v0.11 Zornitza Stark Panel name changed from Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS to Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH
Kidneyome_SuperPanel v0.0 Zornitza Stark Added Panel Kidneyome_SuperPanel_KidGen_VCGS
Set child panels to: Proteinuria_VCGS_KidGen; Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS; Renal amyloidosis_KidGen_VCGS; Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS; Renal abnormalities of magnesium metabolism_KidGen_VCGS; Renal macrocystic disease_KidGen_VCGS; Atypical Haemolytic Uraemic Syndrome_VCGS; Metabolic renal disease_KidGen; Renal ciliopathies and nephronophthisis_KidGen; Haematuria_VCGS_KidGen; Renal tubulointerstitial disease_KidGen_VCGS; Renal abnormalities of calcium and phosphate metabolism_KidGen_VCGS; Renal tubulopathies_KidGen; Nephrolithiasis and Nephrocalcinosis_VCGS; Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS; Bartter Syndrome_VCGS; Renal tubular dysgenesis_VCGS; Branchio-oto-renal syndrome_VCGS; Alport syndrome_VCGS; Dent disease_VCGS; Hyperoxaluria_VCGS
Set panel types to: Superpanel
Calcium and Phosphate disorders v0.6 Zornitza Stark Panel name changed from Abnormalities of renal calcium and phosphate metabolism_KidGen_VCGS to Renal abnormalities of calcium and phosphate metabolism_KidGen_VCGS
Atypical Haemolytic Uraemic Syndrome_MPGN v0.9 MMACHC Zornitza Stark Marked gene: MMACHC as ready
Atypical Haemolytic Uraemic Syndrome_MPGN v0.9 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.9 MMACHC Zornitza Stark Classified gene: MMACHC as Green List (high evidence)
Atypical Haemolytic Uraemic Syndrome_MPGN v0.9 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.8 MMACHC Zornitza Stark gene: MMACHC was added
gene: MMACHC was added to Atypical Haemolytic Uraemic Syndrome_VCGS. Sources: Expert list
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400
Review for gene: MMACHC was set to GREEN
Added comment: HUS is a described feature of this metabolic condition.
Sources: Expert list
Haematuria_Alport v0.7 CFHR5 Zornitza Stark reviewed gene: CFHR5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephropathy due to CFHR5 deficiency, MIM#614809; Mode of inheritance: None
Haematuria_Alport v0.7 CFH Zornitza Stark Marked gene: CFH as ready
Haematuria_Alport v0.7 CFH Zornitza Stark Gene: cfh has been classified as Green List (High Evidence).
Haematuria_Alport v0.7 CFH Zornitza Stark Phenotypes for gene: CFH were changed from to Complement factor H deficiency, MIM#609814
Haematuria_Alport v0.6 CFH Zornitza Stark Mode of inheritance for gene: CFH was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Haematuria_Alport v0.5 CFH Zornitza Stark reviewed gene: CFH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Complement factor H deficiency, MIM#609814; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.388 NUP37 Zornitza Stark gene: NUP37 was added
gene: NUP37 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NUP37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP37 were set to 30179222
Phenotypes for gene: NUP37 were set to Nephrotic syndrome
Review for gene: NUP37 was set to RED
Added comment: Single family reported with nephrotic syndrome.
Sources: Literature
Proteinuria v0.54 NUP37 Zornitza Stark Marked gene: NUP37 as ready
Proteinuria v0.54 NUP37 Zornitza Stark Gene: nup37 has been classified as Red List (Low Evidence).
Proteinuria v0.54 NUP37 Zornitza Stark gene: NUP37 was added
gene: NUP37 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: NUP37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP37 were set to 30179222
Phenotypes for gene: NUP37 were set to Nephrotic syndrome
Review for gene: NUP37 was set to RED
Added comment: Single family reported.
Sources: Expert list
Mendeliome v0.387 NUP133 Zornitza Stark Marked gene: NUP133 as ready
Mendeliome v0.387 NUP133 Zornitza Stark Gene: nup133 has been classified as Green List (High Evidence).
Mendeliome v0.387 NUP133 Zornitza Stark Classified gene: NUP133 as Green List (high evidence)
Mendeliome v0.387 NUP133 Zornitza Stark Gene: nup133 has been classified as Green List (High Evidence).
Mendeliome v0.386 NUP133 Zornitza Stark gene: NUP133 was added
gene: NUP133 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NUP133 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP133 were set to 30179222
Phenotypes for gene: NUP133 were set to Nephrotic syndrome, type 18, MIM#618177
Review for gene: NUP133 was set to GREEN
Added comment: Two unrelated families with functional data.
Sources: Literature
Mendeliome v0.385 NUP160 Zornitza Stark Marked gene: NUP160 as ready
Mendeliome v0.385 NUP160 Zornitza Stark Gene: nup160 has been classified as Red List (Low Evidence).
Mendeliome v0.385 NUP160 Zornitza Stark gene: NUP160 was added
gene: NUP160 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NUP160 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP160 were set to 30179222
Phenotypes for gene: NUP160 were set to Nephrotic syndrome, type 19, MIM#618178
Review for gene: NUP160 was set to RED
Added comment: Single family, no functional data.
Sources: Literature
Proteinuria v0.53 NUP160 Zornitza Stark Marked gene: NUP160 as ready
Proteinuria v0.53 NUP160 Zornitza Stark Gene: nup160 has been classified as Red List (Low Evidence).
Proteinuria v0.53 NUP160 Zornitza Stark gene: NUP160 was added
gene: NUP160 was added to Proteinuria_VCGS_KidGen. Sources: Literature
Mode of inheritance for gene: NUP160 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP160 were set to 30179222
Phenotypes for gene: NUP160 were set to Nephrotic syndrome, type 19, MIM#618178
Review for gene: NUP160 was set to RED
Added comment: Single family, no functional data.
Sources: Literature
Proteinuria v0.52 NUP133 Zornitza Stark Marked gene: NUP133 as ready
Proteinuria v0.52 NUP133 Zornitza Stark Gene: nup133 has been classified as Green List (High Evidence).
Proteinuria v0.52 NUP133 Zornitza Stark Classified gene: NUP133 as Green List (high evidence)
Proteinuria v0.52 NUP133 Zornitza Stark Gene: nup133 has been classified as Green List (High Evidence).
Proteinuria v0.51 NUP133 Zornitza Stark gene: NUP133 was added
gene: NUP133 was added to Proteinuria_VCGS_KidGen. Sources: Literature
Mode of inheritance for gene: NUP133 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP133 were set to 30179222
Phenotypes for gene: NUP133 were set to Nephrotic syndrome, type 18, MIM#618177
Review for gene: NUP133 was set to GREEN
Added comment: Two unrelated families with functional data.
Sources: Literature
Mendeliome v0.384 NUP85 Zornitza Stark Marked gene: NUP85 as ready
Mendeliome v0.384 NUP85 Zornitza Stark Gene: nup85 has been classified as Green List (High Evidence).
Mendeliome v0.384 NUP85 Zornitza Stark Classified gene: NUP85 as Green List (high evidence)
Mendeliome v0.384 NUP85 Zornitza Stark Gene: nup85 has been classified as Green List (High Evidence).
Mendeliome v0.383 NUP85 Zornitza Stark gene: NUP85 was added
gene: NUP85 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NUP85 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP85 were set to 30179222
Phenotypes for gene: NUP85 were set to Nephrotic syndrome, type 17, MIM#618176
Review for gene: NUP85 was set to GREEN
Added comment: Three unrelated families reported.
Sources: Literature
Proteinuria v0.50 NUP85 Zornitza Stark Marked gene: NUP85 as ready
Proteinuria v0.50 NUP85 Zornitza Stark Gene: nup85 has been classified as Green List (High Evidence).
Proteinuria v0.50 NUP85 Zornitza Stark Classified gene: NUP85 as Green List (high evidence)
Proteinuria v0.50 NUP85 Zornitza Stark Gene: nup85 has been classified as Green List (High Evidence).
Proteinuria v0.49 NUP85 Zornitza Stark gene: NUP85 was added
gene: NUP85 was added to Proteinuria_VCGS_KidGen. Sources: Literature
Mode of inheritance for gene: NUP85 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP85 were set to 30179222
Phenotypes for gene: NUP85 were set to Nephrotic syndrome, type 17, MIM#618176
Review for gene: NUP85 was set to GREEN
Added comment: Three unrelated families described.
Sources: Literature
Proteinuria v0.48 PAX2 Zornitza Stark Marked gene: PAX2 as ready
Proteinuria v0.48 PAX2 Zornitza Stark Gene: pax2 has been classified as Green List (High Evidence).
Proteinuria v0.48 PAX2 Zornitza Stark Phenotypes for gene: PAX2 were changed from to Glomerulosclerosis, focal segmental, 7, MIM#616002
Proteinuria v0.47 PAX2 Zornitza Stark Publications for gene: PAX2 were set to
Proteinuria v0.46 PAX2 Zornitza Stark Mode of inheritance for gene: PAX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.45 PAX2 Zornitza Stark reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24676634; Phenotypes: Glomerulosclerosis, focal segmental, 7, MIM#616002; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.45 TTC21B Zornitza Stark Marked gene: TTC21B as ready
Proteinuria v0.45 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
Proteinuria v0.45 TTC21B Zornitza Stark Phenotypes for gene: TTC21B were changed from to Nephronophthisis 12, MIM#613820
Proteinuria v0.44 TTC21B Zornitza Stark Mode of inheritance for gene: TTC21B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.43 TTC21B Zornitza Stark Classified gene: TTC21B as Red List (low evidence)
Proteinuria v0.43 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
Proteinuria v0.42 TTC21B Zornitza Stark reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 12, MIM#613820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.382 XPO5 Zornitza Stark Marked gene: XPO5 as ready
Mendeliome v0.382 XPO5 Zornitza Stark Gene: xpo5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.382 XPO5 Zornitza Stark Phenotypes for gene: XPO5 were changed from to Nephrotic syndrome
Mendeliome v0.381 XPO5 Zornitza Stark Publications for gene: XPO5 were set to
Mendeliome v0.380 XPO5 Zornitza Stark Mode of inheritance for gene: XPO5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.379 XPO5 Zornitza Stark Classified gene: XPO5 as Amber List (moderate evidence)
Mendeliome v0.379 XPO5 Zornitza Stark Gene: xpo5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.378 XPO5 Zornitza Stark reviewed gene: XPO5: Rating: AMBER; Mode of pathogenicity: None; Publications: 26878725; Phenotypes: Nephrotic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.42 XPO5 Zornitza Stark Marked gene: XPO5 as ready
Proteinuria v0.42 XPO5 Zornitza Stark Gene: xpo5 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.42 XPO5 Zornitza Stark Classified gene: XPO5 as Amber List (moderate evidence)
Proteinuria v0.42 XPO5 Zornitza Stark Gene: xpo5 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.41 XPO5 Zornitza Stark gene: XPO5 was added
gene: XPO5 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: XPO5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPO5 were set to 26878725
Phenotypes for gene: XPO5 were set to Nephrotic syndrome
Review for gene: XPO5 was set to AMBER
Added comment: Singe family reported.
Sources: Expert list
Proteinuria v0.40 NUP93 Zornitza Stark Marked gene: NUP93 as ready
Proteinuria v0.40 NUP93 Zornitza Stark Gene: nup93 has been classified as Green List (High Evidence).
Proteinuria v0.40 NUP93 Zornitza Stark Classified gene: NUP93 as Green List (high evidence)
Proteinuria v0.40 NUP93 Zornitza Stark Gene: nup93 has been classified as Green List (High Evidence).
Proteinuria v0.39 NUP93 Zornitza Stark gene: NUP93 was added
gene: NUP93 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: NUP93 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP93 were set to 26878725
Phenotypes for gene: NUP93 were set to Nephrotic syndrome, type 12, MIM#616892
Review for gene: NUP93 was set to GREEN
Added comment: 7 individuals from six unrelated families reported with bi-allelic variants in this gene.
Sources: Expert list
Mendeliome v0.378 NUP205 Zornitza Stark Marked gene: NUP205 as ready
Mendeliome v0.378 NUP205 Zornitza Stark Gene: nup205 has been classified as Red List (Low Evidence).
Mendeliome v0.378 NUP205 Zornitza Stark Phenotypes for gene: NUP205 were changed from to Nephrotic syndrome, type 13, MIM#616893
Mendeliome v0.377 NUP205 Zornitza Stark Publications for gene: NUP205 were set to
Mendeliome v0.376 NUP205 Zornitza Stark Mode of inheritance for gene: NUP205 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.375 NUP205 Zornitza Stark Classified gene: NUP205 as Red List (low evidence)
Mendeliome v0.375 NUP205 Zornitza Stark Gene: nup205 has been classified as Red List (Low Evidence).
Mendeliome v0.374 NUP205 Zornitza Stark reviewed gene: NUP205: Rating: RED; Mode of pathogenicity: None; Publications: 26878725; Phenotypes: Nephrotic syndrome, type 13, MIM#616893; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.38 NUP205 Zornitza Stark Marked gene: NUP205 as ready
Proteinuria v0.38 NUP205 Zornitza Stark Gene: nup205 has been classified as Red List (Low Evidence).
Proteinuria v0.38 NUP205 Zornitza Stark gene: NUP205 was added
gene: NUP205 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: NUP205 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP205 were set to 26878725
Phenotypes for gene: NUP205 were set to Nephrotic syndrome, type 13, MIM#616893
Review for gene: NUP205 was set to RED
Added comment: Single family described so far.
Sources: Expert list
Proteinuria v0.37 LMNA Zornitza Stark Marked gene: LMNA as ready
Proteinuria v0.37 LMNA Zornitza Stark Gene: lmna has been classified as Red List (Low Evidence).
Proteinuria v0.37 LMNA Zornitza Stark Phenotypes for gene: LMNA were changed from to Familial partial lipodystrophy; FSGS
Proteinuria v0.36 LMNA Zornitza Stark Publications for gene: LMNA were set to
Proteinuria v0.35 LMNA Zornitza Stark Mode of inheritance for gene: LMNA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.34 LMNA Zornitza Stark Classified gene: LMNA as Red List (low evidence)
Proteinuria v0.34 LMNA Zornitza Stark Gene: lmna has been classified as Red List (Low Evidence).
Proteinuria v0.33 LMNA Zornitza Stark reviewed gene: LMNA: Rating: RED; Mode of pathogenicity: None; Publications: 24080738; Phenotypes: Familial partial lipodystrophy, FSGS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.374 KANK1 Zornitza Stark Classified gene: KANK1 as Amber List (moderate evidence)
Mendeliome v0.374 KANK1 Zornitza Stark Added comment: Comment on list classification: Amber for nephrotic after discussion with Chirag Patel.
Mendeliome v0.374 KANK1 Zornitza Stark Gene: kank1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.373 KANK4 Zornitza Stark Marked gene: KANK4 as ready
Mendeliome v0.373 KANK4 Zornitza Stark Gene: kank4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.373 KANK4 Zornitza Stark Classified gene: KANK4 as Amber List (moderate evidence)
Mendeliome v0.373 KANK4 Zornitza Stark Gene: kank4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.372 KANK4 Zornitza Stark gene: KANK4 was added
gene: KANK4 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: KANK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KANK4 were set to 25961457
Phenotypes for gene: KANK4 were set to Nephrotic syndrome
Review for gene: KANK4 was set to AMBER
Added comment: Two individuals from a single family reported; gene belongs to a family implicated in nephrotic syndrome.
Sources: Expert list
Proteinuria v0.33 KANK4 Zornitza Stark Marked gene: KANK4 as ready
Proteinuria v0.33 KANK4 Zornitza Stark Gene: kank4 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.33 KANK4 Zornitza Stark Classified gene: KANK4 as Amber List (moderate evidence)
Proteinuria v0.33 KANK4 Zornitza Stark Gene: kank4 has been classified as Amber List (Moderate Evidence).
Alternating Hemiplegia and Hemiplegic Migraine v0.0 PRRT2 Michelle Torres reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID 22101681, PMID 22744660, PMID 31124310, PMID 26561923; Phenotypes: Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066, Episodic kinesigenic dyskinesia 1, 128200, Seizures, benign familial infantile, 2, 605751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Proteinuria v0.32 KANK4 Zornitza Stark gene: KANK4 was added
gene: KANK4 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: KANK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KANK4 were set to 25961457
Review for gene: KANK4 was set to AMBER
Added comment: Single family with two affected individuals reported; belongs to family of proteins implicated in nephrotic syndrome.
Sources: Expert list
Proteinuria v0.31 KANK1 Zornitza Stark Classified gene: KANK1 as Amber List (moderate evidence)
Proteinuria v0.31 KANK1 Zornitza Stark Added comment: Comment on list classification: Note previously discussed with Chirag Patel, Amber for now.
Proteinuria v0.31 KANK1 Zornitza Stark Gene: kank1 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.30 KANK1 Zornitza Stark Classified gene: KANK1 as Amber List (moderate evidence)
Proteinuria v0.30 KANK1 Zornitza Stark Gene: kank1 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.29 KANK2 Zornitza Stark Marked gene: KANK2 as ready
Proteinuria v0.29 KANK2 Zornitza Stark Gene: kank2 has been classified as Green List (High Evidence).
Proteinuria v0.29 KANK2 Zornitza Stark Classified gene: KANK2 as Green List (high evidence)
Proteinuria v0.29 KANK2 Zornitza Stark Gene: kank2 has been classified as Green List (High Evidence).
Proteinuria v0.28 KANK2 Zornitza Stark gene: KANK2 was added
gene: KANK2 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: KANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KANK2 were set to 25961457
Phenotypes for gene: KANK2 were set to Nephrotic syndrome, type 16, MIM#617783
Review for gene: KANK2 was set to GREEN
Added comment: Three unrelated families reported, animal model.
Sources: Expert list
Proteinuria v0.27 KANK1 Zornitza Stark Marked gene: KANK1 as ready
Proteinuria v0.27 KANK1 Zornitza Stark Gene: kank1 has been classified as Red List (Low Evidence).
Proteinuria v0.27 KANK1 Zornitza Stark gene: KANK1 was added
gene: KANK1 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: KANK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KANK1 were set to 25961457
Phenotypes for gene: KANK1 were set to Nephrotic syndrome
Review for gene: KANK1 was set to RED
Added comment: Single family reported in the literature so far; belongs to family of proteins implicated in nephrotic syndrome.
Sources: Expert list
Proteinuria v0.26 ITGB4 Zornitza Stark Marked gene: ITGB4 as ready
Proteinuria v0.26 ITGB4 Zornitza Stark Gene: itgb4 has been classified as Red List (Low Evidence).
Proteinuria v0.26 ITGB4 Zornitza Stark Phenotypes for gene: ITGB4 were changed from to Epidermolysis bullosa, junctional, with pyloric atresia, MIM#226730
Proteinuria v0.25 ITGB4 Zornitza Stark Publications for gene: ITGB4 were set to 10873890
Proteinuria v0.25 ITGB4 Zornitza Stark Publications for gene: ITGB4 were set to 10873890
Proteinuria v0.24 ITGB4 Zornitza Stark Publications for gene: ITGB4 were set to
Proteinuria v0.23 ITGB4 Zornitza Stark Mode of inheritance for gene: ITGB4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.22 ITGB4 Zornitza Stark Classified gene: ITGB4 as Red List (low evidence)
Proteinuria v0.22 ITGB4 Zornitza Stark Gene: itgb4 has been classified as Red List (Low Evidence).
Proteinuria v0.22 ITGB4 Zornitza Stark Classified gene: ITGB4 as Red List (low evidence)
Proteinuria v0.22 ITGB4 Zornitza Stark Gene: itgb4 has been classified as Red List (Low Evidence).
Proteinuria v0.21 ITGB4 Zornitza Stark reviewed gene: ITGB4: Rating: RED; Mode of pathogenicity: None; Publications: 10873890; Phenotypes: Epidermolysis bullosa, junctional, with pyloric atresia, MIM#226730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.21 COQ8B Zornitza Stark Marked gene: COQ8B as ready
Proteinuria v0.21 COQ8B Zornitza Stark Gene: coq8b has been classified as Green List (High Evidence).
Proteinuria v0.21 COQ8B Zornitza Stark Classified gene: COQ8B as Green List (high evidence)
Proteinuria v0.21 COQ8B Zornitza Stark Gene: coq8b has been classified as Green List (High Evidence).
Proteinuria v0.20 COQ8B Zornitza Stark gene: COQ8B was added
gene: COQ8B was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ8B were set to 24270420
Phenotypes for gene: COQ8B were set to Nephrotic syndrome, type 9, MIM#615573
Review for gene: COQ8B was set to GREEN
Added comment: Sources: Expert list
Proteinuria v0.19 COQ8A Zornitza Stark Marked gene: COQ8A as ready
Proteinuria v0.19 COQ8A Zornitza Stark Gene: coq8a has been classified as Red List (Low Evidence).
Proteinuria v0.19 COQ8A Zornitza Stark Phenotypes for gene: COQ8A were changed from to Coenzyme Q10 deficiency, primary, 4, MIM#612016
Proteinuria v0.18 COQ8A Zornitza Stark Classified gene: COQ8A as Red List (low evidence)
Proteinuria v0.18 COQ8A Zornitza Stark Gene: coq8a has been classified as Red List (Low Evidence).
Proteinuria v0.17 COQ8A Zornitza Stark reviewed gene: COQ8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 4, MIM#612016; Mode of inheritance: None
Proteinuria v0.17 OCRL Zornitza Stark Marked gene: OCRL as ready
Proteinuria v0.17 OCRL Zornitza Stark Gene: ocrl has been classified as Green List (High Evidence).
Proteinuria v0.17 OCRL Zornitza Stark Classified gene: OCRL as Green List (high evidence)
Proteinuria v0.17 OCRL Zornitza Stark Gene: ocrl has been classified as Green List (High Evidence).
Proteinuria v0.16 OCRL Zornitza Stark gene: OCRL was added
gene: OCRL was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OCRL were set to Dent disease 2, MIM#300555; Lowe syndrome, MIM#309000
Review for gene: OCRL was set to GREEN
Added comment: Low molecular weight proteinuria is a feature of these conditions.
Sources: Expert list
Proteinuria v0.15 CLCN5 Zornitza Stark Marked gene: CLCN5 as ready
Proteinuria v0.15 CLCN5 Zornitza Stark Gene: clcn5 has been classified as Green List (High Evidence).
Proteinuria v0.15 CLCN5 Zornitza Stark Classified gene: CLCN5 as Green List (high evidence)
Proteinuria v0.15 CLCN5 Zornitza Stark Gene: clcn5 has been classified as Green List (High Evidence).
Proteinuria v0.14 CLCN5 Zornitza Stark gene: CLCN5 was added
gene: CLCN5 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: CLCN5 were set to Dent disease, MIM#300009; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990
Review for gene: CLCN5 was set to GREEN
Added comment: Low molecular weight proteinuria is part of the phenotype.
Sources: Expert list
Proteinuria v0.13 APOL1 Zornitza Stark Marked gene: APOL1 as ready
Proteinuria v0.13 APOL1 Zornitza Stark Gene: apol1 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.13 APOL1 Zornitza Stark Classified gene: APOL1 as Amber List (moderate evidence)
Proteinuria v0.13 APOL1 Zornitza Stark Gene: apol1 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.12 APOL1 Zornitza Stark Phenotypes for gene: APOL1 were changed from to {Glomerulosclerosis, focal segmental, 4, susceptibility to}, MIM#612551
Proteinuria v0.11 APOL1 Zornitza Stark Publications for gene: APOL1 were set to
Proteinuria v0.10 APOL1 Zornitza Stark Mode of inheritance for gene: APOL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.10 APOL1 Zornitza Stark Classified gene: APOL1 as Amber List (moderate evidence)
Proteinuria v0.10 APOL1 Zornitza Stark Gene: apol1 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.9 APOL1 Zornitza Stark reviewed gene: APOL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20647424, 24206458, 20635188; Phenotypes: {Glomerulosclerosis, focal segmental, 4, susceptibility to}, MIM#612551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.9 APOE Zornitza Stark Marked gene: APOE as ready
Proteinuria v0.9 APOE Zornitza Stark Gene: apoe has been classified as Green List (High Evidence).
Proteinuria v0.9 APOE Zornitza Stark Classified gene: APOE as Green List (high evidence)
Proteinuria v0.9 APOE Zornitza Stark Gene: apoe has been classified as Green List (High Evidence).
Proteinuria v0.8 APOE Zornitza Stark gene: APOE was added
gene: APOE was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: APOE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOE were set to 18077821; 28966924; 24348079
Phenotypes for gene: APOE were set to Lipoprotein glomerulopathy, MIM#611771
Review for gene: APOE was set to GREEN
Added comment: Sources: Expert list
Proteinuria v0.7 AMN Zornitza Stark Marked gene: AMN as ready
Proteinuria v0.7 AMN Zornitza Stark Gene: amn has been classified as Green List (High Evidence).
Proteinuria v0.7 AMN Zornitza Stark Classified gene: AMN as Green List (high evidence)
Proteinuria v0.7 AMN Zornitza Stark Gene: amn has been classified as Green List (High Evidence).
Proteinuria v0.6 AMN Zornitza Stark gene: AMN was added
gene: AMN was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMN were set to 15024727
Phenotypes for gene: AMN were set to Megaloblastic anemia-1, Norwegian type, MIM#261100
Review for gene: AMN was set to GREEN
Added comment: Proteinuria is a key feature of this condition.
Sources: Expert list
Proteinuria v0.5 Zornitza Stark Panel name changed from Proteinuria_VCGS to Proteinuria_VCGS_KidGen
Proteinuria v0.4 Zornitza Stark Panel name changed from Nephrotic Syndrome_VCGS to Proteinuria_VCGS
Ataxia - paediatric v0.0 ZNF592 Bryony Thompson gene: ZNF592 was added
gene: ZNF592 was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: ZNF592 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF592 were set to 20531441; 26123727
Phenotypes for gene: ZNF592 were set to Spinocerebellar ataxia, autosomal recessive 5; Galloway-Mowat Syndrome 1, 251300
Ataxia - paediatric v0.0 ZNF423 Bryony Thompson gene: ZNF423 was added
gene: ZNF423 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ZNF423 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNF423 were set to Nephronophthisis 14
Ataxia - paediatric v0.0 WWOX Bryony Thompson gene: WWOX was added
gene: WWOX was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WWOX were set to Autosomal recessive spinocerebellar ataxia 12, 6143232; Early infantile epileptic encephalopathy 28, 616211; Autosomal recessive spinocerebellar ataxia 12, 614322
Ataxia - paediatric v0.0 WFS1 Bryony Thompson gene: WFS1 was added
gene: WFS1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WFS1 were set to Wolfram syndrome 1, 222300
Ataxia - paediatric v0.0 WDR81 Bryony Thompson gene: WDR81 was added
gene: WDR81 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR81 were set to Congenital hydrocephalus 3 with brain anomalies, 617967; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185; Cerebellar ataxia, mental retardation and dysequilibrium syndrome 2, 610185
Ataxia - paediatric v0.0 WDR73 Bryony Thompson gene: WDR73 was added
gene: WDR73 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR73 were set to Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature; Galloway-Mowat Syndrome 1, 251300
Ataxia - paediatric v0.0 VLDLR Bryony Thompson gene: VLDLR was added
gene: VLDLR was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VLDLR were set to Cerebellar ataxia, mental retardation and dysequilibirum syndrome 1, 224050; Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050
Ataxia - paediatric v0.0 UCHL1 Bryony Thompson gene: UCHL1 was added
gene: UCHL1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: UCHL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UCHL1 were set to Early onset ataxia and optic neuropathy; Autosomal recessive spastic paraplegia 79, 615491
Ataxia - paediatric v0.0 UBR4 Bryony Thompson gene: UBR4 was added
gene: UBR4 was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: UBR4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UBR4 were set to 23982692
Phenotypes for gene: UBR4 were set to ?Episodic ataxia; Episodic ataxia type 8, 616055
Ataxia - paediatric v0.0 UBA5 Bryony Thompson gene: UBA5 was added
gene: UBA5 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBA5 were set to 26872069; 29902590
Phenotypes for gene: UBA5 were set to ?Autosomal recessive spinocerebellar ataxia 24, 617133; Early infantile epileptic encephalopathy 44, 617132
Ataxia - paediatric v0.0 TWNK Bryony Thompson gene: TWNK was added
gene: TWNK was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7, 271245; Ataxia Neuropathy Spectrum Disorders, Dominant; Progressive external ophthalmoplegia with mitochondrial DNA deletions, 609286; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Perrault syndrome 5, 616138; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Spinocerebellar Ataxia, Recessive
Ataxia - paediatric v0.0 TUBB4A Bryony Thompson gene: TUBB4A was added
gene: TUBB4A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB4A were set to Leukodystrophy, hypomyelinating, 6, 612438; Dystonia 4, 128101, Hypomyelinating leukodystrophy 6, 612438; Dystonia 4, torsion, autosomal dominant, 128101
Ataxia - paediatric v0.0 TUBB2A Bryony Thompson gene: TUBB2A was added
gene: TUBB2A was added to Ataxia - paediatric_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: TUBB2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB2A were set to 29547997
Phenotypes for gene: TUBB2A were set to ?progressive spastic ataxia syndrome resembling sacsinopathy; Complex cortical dysplasia with other brain malformations 5, 615763
Ataxia - paediatric v0.0 TUBA1A Bryony Thompson gene: TUBA1A was added
gene: TUBA1A was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: TUBA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBA1A were set to 21403111
Phenotypes for gene: TUBA1A were set to Lissencephaly 3, 611603
Ataxia - paediatric v0.0 TTC19 Bryony Thompson gene: TTC19 was added
gene: TTC19 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC19 were set to Mitochondrial complex III deficiency nuclear type II, 615157; Mitochondrial complex III deficiency, nuclear type 2, 615157
Ataxia - paediatric v0.0 TSFM Bryony Thompson gene: TSFM was added
gene: TSFM was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3
Ataxia - paediatric v0.0 TPP1 Bryony Thompson gene: TPP1 was added
gene: TPP1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPP1 were set to Autosomal recessive spinocerebellar ataxia 7, 609270; Neuronal ceroid lipofuscinosis, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270; Ceroid lipofuscinosis, neuronal, 2, 204500
Ataxia - paediatric v0.0 TMEM67 Bryony Thompson gene: TMEM67 was added
gene: TMEM67 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM67 were set to Joubert syndrome 6
Ataxia - paediatric v0.0 TMEM237 Bryony Thompson gene: TMEM237 was added
gene: TMEM237 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM237 were set to Joubert syndrome 14
Ataxia - paediatric v0.0 TMEM231 Bryony Thompson gene: TMEM231 was added
gene: TMEM231 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM231 were set to Joubert syndrome 20
Ataxia - paediatric v0.0 TMEM216 Bryony Thompson gene: TMEM216 was added
gene: TMEM216 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM216 were set to Joubert syndrome 2
Ataxia - paediatric v0.0 TMEM138 Bryony Thompson gene: TMEM138 was added
gene: TMEM138 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM138 were set to Joubert syndrome 16
Ataxia - paediatric v0.0 TMEM106B Bryony Thompson gene: TMEM106B was added
gene: TMEM106B was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TMEM106B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TMEM106B were set to Hypomyelinating leukodystrophy 16, 617964
Ataxia - paediatric v0.0 TINF2 Bryony Thompson gene: TINF2 was added
gene: TINF2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TINF2 were set to Autosomal dominant dyskeratosis congenita 3, 613990; Revesz syndrome, 268130
Ataxia - paediatric v0.0 THG1L Bryony Thompson gene: THG1L was added
gene: THG1L was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: THG1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: THG1L were set to Cerebellar ataxia with developmental delay
Ataxia - paediatric v0.0 TDP2 Bryony Thompson gene: TDP2 was added
gene: TDP2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: TDP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDP2 were set to 31410782; 30109272; 24658003
Phenotypes for gene: TDP2 were set to Spinocerebellar ataxia, autosomal recessive 23
Ataxia - paediatric v0.0 TCTN3 Bryony Thompson gene: TCTN3 was added
gene: TCTN3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN3 were set to Joubert syndrome 18
Ataxia - paediatric v0.0 TCTN2 Bryony Thompson gene: TCTN2 was added
gene: TCTN2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN2 were set to Joubert syndrome 24
Ataxia - paediatric v0.0 TCTN1 Bryony Thompson gene: TCTN1 was added
gene: TCTN1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN1 were set to Joubert syndrome 13
Ataxia - paediatric v0.0 TBC1D23 Bryony Thompson gene: TBC1D23 was added
gene: TBC1D23 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TBC1D23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D23 were set to Pontocerebellar hypoplasia type 11, 617695
Ataxia - paediatric v0.0 SYNGAP1 Bryony Thompson gene: SYNGAP1 was added
gene: SYNGAP1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SYNGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SYNGAP1 were set to Autosomal dominant mental retardation 5, 612621
Ataxia - paediatric v0.0 SRD5A3 Bryony Thompson gene: SRD5A3 was added
gene: SRD5A3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SRD5A3 were set to Kahrizi syndrome, 612713; Congenital disorder of glycosylation, type Iq, 612379; Congenital disorder of glycosylation type Iq, 612379
Ataxia - paediatric v0.0 SQSTM1 Bryony Thompson gene: SQSTM1 was added
gene: SQSTM1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SQSTM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SQSTM1 were set to Neurodegeneration with ataxia, dystonia, and gaze palsy, 617145
Ataxia - paediatric v0.0 SPR Bryony Thompson gene: SPR was added
gene: SPR was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SPR were set to Dopa-responsive dystonia due to sepiaterin reductase deficiency, 612716; Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716
Ataxia - paediatric v0.0 SNX14 Bryony Thompson gene: SNX14 was added
gene: SNX14 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNX14 were set to Autosomal recessive spinocerebellar ataxia 20, 616354; Autosomal recessive spinocerebellar ataxia (#616354)
Ataxia - paediatric v0.0 SLC9A6 Bryony Thompson gene: SLC9A6 was added
gene: SLC9A6 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: SLC9A6 were set to Mental retardation, X-linked syndromic, Christianson type, 300243
Ataxia - paediatric v0.0 SLC9A1 Bryony Thompson gene: SLC9A1 was added
gene: SLC9A1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC9A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC9A1 were set to Lichtenstein-Knorr Syndrome
Ataxia - paediatric v0.0 SLC52A2 Bryony Thompson gene: SLC52A2 was added
gene: SLC52A2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Bwon-Vialetto-Van Laere syndrome 2, 614707
Ataxia - paediatric v0.0 SLC2A1 Bryony Thompson gene: SLC2A1 was added
gene: SLC2A1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A1 were set to dystonia 9; GLUT1 deficiency syndrome 2, 612126; GLUT1 DEFICIENCY SYNDROME 1; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 deficiency syndrome 1, 606777; Dystonia 9, 601042; EPILEPSY, IDIOPATHIC GENERALIZED
Ataxia - paediatric v0.0 SLC25A46 Bryony Thompson gene: SLC25A46 was added
gene: SLC25A46 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A46 were set to Hereditary motor and sensory neuropathy type VIB, 616505
Ataxia - paediatric v0.0 SLC1A3 Bryony Thompson gene: SLC1A3 was added
gene: SLC1A3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC1A3 were set to Episodic ataxia, type 6; Episodic ataxia type 6, 612656
Ataxia - paediatric v0.0 SLC17A5 Bryony Thompson gene: SLC17A5 was added
gene: SLC17A5 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC17A5 were set to Salla disease; Sialic acid storage disease, severe infantile type
Ataxia - paediatric v0.0 SIL1 Bryony Thompson gene: SIL1 was added
gene: SIL1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome, 248800
Ataxia - paediatric v0.0 SCYL1 Bryony Thompson gene: SCYL1 was added
gene: SCYL1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCYL1 were set to Spinocerebellar ataxia, autosomal recessive 21, 616719
Ataxia - paediatric v0.0 SCN8A Bryony Thompson gene: SCN8A was added
gene: SCN8A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN8A were set to epilepsy; Benign familial infantile seizures 5, 617080; paroxysmal kinesigenic dyskinesias; Epileptic encephalopathy 13, 614558; Cognitive impairment with or without cerebellar ataxia, 614306
Ataxia - paediatric v0.0 SCN2A Bryony Thompson gene: SCN2A was added
gene: SCN2A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN2A were set to Early infantile epileptic encephalopathy 11
Ataxia - paediatric v0.0 SCN1A Bryony Thompson gene: SCN1A was added
gene: SCN1A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN1A were set to Familial hemiplegic migraine 3, 609634; familial hemiplegic migraine 3; Familial febrile seziures 3A, 604403; several epilepsy, convulsion and migraine disorders.; Generalised epilepsy with febrile seizures type 2, 604403; Epileptic encephalopathy 6, 607208; Dravet syndrome
Ataxia - paediatric v0.0 RUBCN Bryony Thompson gene: RUBCN was added
gene: RUBCN was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: RUBCN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RUBCN were set to 20826435; 23728897
Phenotypes for gene: RUBCN were set to ?Spinocerebellar ataxia, autosomal recessive 15
Ataxia - paediatric v0.0 RPGRIP1L Bryony Thompson gene: RPGRIP1L was added
gene: RPGRIP1L was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1L were set to Joubert syndrome 7
Ataxia - paediatric v0.0 RORA Bryony Thompson gene: RORA was added
gene: RORA was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RORA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RORA were set to Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060
Ataxia - paediatric v0.0 PTRH2 Bryony Thompson gene: PTRH2 was added
gene: PTRH2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTRH2 were set to Infantile multi-system neurologic, endocrine, and pancreatic disease, 616263
Ataxia - paediatric v0.0 PRICKLE1 Bryony Thompson gene: PRICKLE1 was added
gene: PRICKLE1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PRICKLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRICKLE1 were set to Progressive myoclonic epilepsy 1B, 612437; Progressive Myoclonus Epilepsy with Ataxia
Ataxia - paediatric v0.0 POLR3B Bryony Thompson gene: POLR3B was added
gene: POLR3B was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
Ataxia - paediatric v0.0 POLR3A Bryony Thompson gene: POLR3A was added
gene: POLR3A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3A were set to Autosomal Recessive Ataxia; Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Hypomyelinating leukodystrophy 7 with or without oligodontia and/or hypogonadotrophic hypogonadism, 607694
Ataxia - paediatric v0.0 PNKP Bryony Thompson gene: PNKP was added
gene: PNKP was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNKP were set to Microcephaly, seizures and developmental delay, 613402; Ataxia-oculomotor apraxia 4, 616267; Ataxia with oculomotor apraxia 4 (#616267)
Ataxia - paediatric v0.0 PMPCB Bryony Thompson gene: PMPCB was added
gene: PMPCB was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMPCB were set to Multiple mitochondrial dysfunctions syndrome 6, 617954
Ataxia - paediatric v0.0 PMPCA Bryony Thompson gene: PMPCA was added
gene: PMPCA was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMPCA were set to Autosomal recessive spinocerebellar ataxia 2, 213200; Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.
Ataxia - paediatric v0.0 PLA2G6 Bryony Thompson gene: PLA2G6 was added
gene: PLA2G6 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLA2G6 were set to Autosomal recessive Parkinson disease 14, 612953; Parkinson disease 14 (#612953); Infantile neuroaxonal dystrophy 1 (#256600); Infantile neuroaxonal dystrophy 1, 256600; Neurodegeneration with brain iron accumulation 2B (#610217); Neurodegeneration with brain iron accumulation 2B, 610217
Ataxia - paediatric v0.0 PHYH Bryony Thompson gene: PHYH was added
gene: PHYH was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHYH were set to Refsum disease
Ataxia - paediatric v0.0 PEX7 Bryony Thompson gene: PEX7 was added
gene: PEX7 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to Refsum disease; Peroxisome biogenesis disorder 9B
Ataxia - paediatric v0.0 PEX16 Bryony Thompson gene: PEX16 was added
gene: PEX16 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to Zellweger syndrome (614876); Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis; Peroxisome biogenesis disorder 8A, 614876; Peroxisome biogenesis disorder 8B, 614877
Ataxia - paediatric v0.0 PCDH12 Bryony Thompson gene: PCDH12 was added
gene: PCDH12 was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDH12 were set to 30459466
Phenotypes for gene: PCDH12 were set to cerebellar ataxia, dystonia, retinopathy, and dysmorphism
Ataxia - paediatric v0.0 PAX6 Bryony Thompson gene: PAX6 was added
gene: PAX6 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PAX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAX6 were set to Aniridia, 106210; Aniridia, Cerebellar Ataxia, And Mental Retardation
Ataxia - paediatric v0.0 OPHN1 Bryony Thompson gene: OPHN1 was added
gene: OPHN1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: OPHN1 were set to X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance, 300486; Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
Ataxia - paediatric v0.0 OPA3 Bryony Thompson gene: OPA3 was added
gene: OPA3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501; Optic atrophy 3 with cataract, 165300; 3-methylglutaconic aciduria type III, 258501; Costeff syndrome
Ataxia - paediatric v0.0 OPA1 Bryony Thompson gene: OPA1 was added
gene: OPA1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: OPA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: OPA1 were set to Behr syndrome, 210000; Optic atrophy plus syndrome, 125250; Optic atrophy 1, 165500
Ataxia - paediatric v0.0 OFD1 Bryony Thompson gene: OFD1 was added
gene: OFD1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: OFD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OFD1 were set to Joubert syndrome 10
Ataxia - paediatric v0.0 NPHP1 Bryony Thompson gene: NPHP1 was added
gene: NPHP1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP1 were set to Joubert syndrome 4
Ataxia - paediatric v0.0 NPC2 Bryony Thompson gene: NPC2 was added
gene: NPC2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC2 were set to Niemann-Pick disease type C2, 607625; Niemann-Pick disease type C2 (#607625)
Ataxia - paediatric v0.0 NPC1 Bryony Thompson gene: NPC1 was added
gene: NPC1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC1 were set to Niemann-Pick disease type C1, 257220; Niemann-Pick disease types C1 and D (#257220)
Ataxia - paediatric v0.0 NKX6-2 Bryony Thompson gene: NKX6-2 was added
gene: NKX6-2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX6-2 were set to Autosomal recessive spastic ataxia 8 with hypomyelinating leukodystrophy, 617560; Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
Ataxia - paediatric v0.0 NKX2-1 Bryony Thompson gene: NKX2-1 was added
gene: NKX2-1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NKX2-1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978; Choreoathetosis, hypothyroidism and neonatal respiratory distress, 610978; Chorea, hereditary benign 118700; Hereditary bening chorea, 118700
Ataxia - paediatric v0.0 NHLRC1 Bryony Thompson gene: NHLRC1 was added
gene: NHLRC1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHLRC1 were set to Progressive myoclonic epilepsy 2B, Lafora, 254780; Epilepsy, progressive myoclonic 2B (Lafora) 254780
Ataxia - paediatric v0.0 MVK Bryony Thompson gene: MVK was added
gene: MVK was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MVK were set to Mevalonic aciduria 610377
Ataxia - paediatric v0.0 MTTP Bryony Thompson gene: MTTP was added
gene: MTTP was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTTP were set to Abetalipoproteinemia, 200100; Abetalipoproteinemia
Ataxia - paediatric v0.0 MTPAP Bryony Thompson gene: MTPAP was added
gene: MTPAP was added to Ataxia - paediatric_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTPAP were set to 20970105; 26319014; 25008111
Phenotypes for gene: MTPAP were set to ?Ataxia, spastic, 4,; Autosomal recessive spastic ataxia 4, 613672
Ataxia - paediatric v0.0 MTCL1 Bryony Thompson gene: MTCL1 was added
gene: MTCL1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: MTCL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTCL1 were set to 30548255; 28283581
Phenotypes for gene: MTCL1 were set to slowly progressive cerebellar ataxia, mild intellectual disability, seizures in childhood and episodic pain in the lower limbs
Ataxia - paediatric v0.0 MRE11 Bryony Thompson gene: MRE11 was added
gene: MRE11 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRE11 were set to Ataxia-Telangiectasia-Like Disorder; Ataxia-telangiectasia-like disorder 1, 604391
Ataxia - paediatric v0.0 MMACHC Bryony Thompson gene: MMACHC was added
gene: MMACHC was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria cblC type, 277400; Methylmalonic aciduria and homocystinuria, cblC type, 277400; Ataxia and hypogonadism
Ataxia - paediatric v0.0 MKS1 Bryony Thompson gene: MKS1 was added
gene: MKS1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKS1 were set to Joubert syndrome 28
Ataxia - paediatric v0.0 MAPK8IP3 Bryony Thompson gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAPK8IP3 were set to Intellectual Disability with variable brain anomalies
Ataxia - paediatric v0.0 LARS2 Bryony Thompson gene: LARS2 was added
gene: LARS2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS2 were set to Perrault syndrome 4
Ataxia - paediatric v0.0 LAMA1 Bryony Thompson gene: LAMA1 was added
gene: LAMA1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA1 were set to 26932191
Phenotypes for gene: LAMA1 were set to Poretti-Boltshauser syndrome; Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Ataxia - paediatric v0.0 KIF7 Bryony Thompson gene: KIF7 was added
gene: KIF7 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF7 were set to Koubert syndrome 12; Acrocallosal syndrome, Schinzel type
Ataxia - paediatric v0.0 KCNQ2 Bryony Thompson gene: KCNQ2 was added
gene: KCNQ2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ2 were set to Early infantile encephalopathy 7, 613720; Myokymia, 121200
Ataxia - paediatric v0.0 KCNJ10 Bryony Thompson gene: KCNJ10 was added
gene: KCNJ10 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ10 were set to Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome; SESAME syndrome, 612780
Ataxia - paediatric v0.0 KCNA2 Bryony Thompson gene: KCNA2 was added
gene: KCNA2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNA2 were set to Early infantile encephalopathy 32, 616366
Ataxia - paediatric v0.0 KCNA1 Bryony Thompson gene: KCNA1 was added
gene: KCNA1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNA1 were set to EPISODIC ATAXIA, TYPE 1; myokymia with periodic ataxia; Episodic ataxia/myokymia syndrome, 160120; Episodic ataxia/myokymia syndrome
Ataxia - paediatric v0.0 IRF2BPL Bryony Thompson gene: IRF2BPL was added
gene: IRF2BPL was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: IRF2BPL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IRF2BPL were set to Neurodevelopmental disorder with regression, abnormal movement, loss of speech and seizures, 618088
Ataxia - paediatric v0.0 INPP5E Bryony Thompson gene: INPP5E was added
gene: INPP5E was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPP5E were set to Joubert syndrome 1
Ataxia - paediatric v0.0 HEXB Bryony Thompson gene: HEXB was added
gene: HEXB was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms, 268800; Sandhoff disease, 268800
Ataxia - paediatric v0.0 HEXA Bryony Thompson gene: HEXA was added
gene: HEXA was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800
Ataxia - paediatric v0.0 HARS2 Bryony Thompson gene: HARS2 was added
gene: HARS2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HARS2 were set to Perrault syndrome 2
Ataxia - paediatric v0.0 GSS Bryony Thompson gene: GSS was added
gene: GSS was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GSS were set to Gluthathione synthetase deficiency
Ataxia - paediatric v0.0 GRM1 Bryony Thompson gene: GRM1 was added
gene: GRM1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRM1 were set to Spinocerebellar ataxia, autosomal recessive 13; Spinocerebellar ataxia 44, 617691, autosomal recessive spinocerebellar ataxia type 13, 614831
Ataxia - paediatric v0.0 GRID2 Bryony Thompson gene: GRID2 was added
gene: GRID2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GRID2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRID2 were set to Spinocerebellar ataxia, autosomal recessive 18, 616204
Ataxia - paediatric v0.0 GPAA1 Bryony Thompson gene: GPAA1 was added
gene: GPAA1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPAA1 were set to Glycosylphosphatidylinositol biosynthesis defect 15, 617810
Ataxia - paediatric v0.0 GOSR2 Bryony Thompson gene: GOSR2 was added
gene: GOSR2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GOSR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GOSR2 were set to Epilepsy, progressive myoclonic 6, 614018; Progressive myoclonic epilepsy 6, 614018
Ataxia - paediatric v0.0 GJC2 Bryony Thompson gene: GJC2 was added
gene: GJC2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GJC2 were set to Hypomyelinating leukodystrophy 2, 608804; Leukodystrophy, hypomyelinating, 2; Autosomal Recessive Ataxia; Spastic paraplegia 44, 613206
Ataxia - paediatric v0.0 GBA2 Bryony Thompson gene: GBA2 was added
gene: GBA2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive, 614409; Spastic paraplegia 46, 614409
Ataxia - paediatric v0.0 FOLR1 Bryony Thompson gene: FOLR1 was added
gene: FOLR1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, 613068; Neurodegeneration due to cerebral folate transport deficiency
Ataxia - paediatric v0.0 FBXL4 Bryony Thompson gene: FBXL4 was added
gene: FBXL4 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBXL4 were set to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
Ataxia - paediatric v0.0 EPM2A Bryony Thompson gene: EPM2A was added
gene: EPM2A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPM2A were set to Progressive myoclonic epilepsy 2A, Lafora, 254780; Epilepsy, progressive myoclonic 2A (Lafora) 254780
Ataxia - paediatric v0.0 EBF3 Bryony Thompson gene: EBF3 was added
gene: EBF3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EBF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EBF3 were set to Hypotonia, ataxia and delayed development syndrome, 617330
Ataxia - paediatric v0.0 DNAJC19 Bryony Thompson gene: DNAJC19 was added
gene: DNAJC19 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V 610198; dilated cardiomyopathy with ataxia (DCMA) syndrome; 3-methylglutaconic aciduria type V, 610198
Ataxia - paediatric v0.0 DDHD2 Bryony Thompson gene: DDHD2 was added
gene: DDHD2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDHD2 were set to Autosomal recessive paraplegia 54 (#615033). Complex form of disease ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132.; Spastic paraplegia 54
Ataxia - paediatric v0.0 DARS2 Bryony Thompson gene: DARS2 was added
gene: DARS2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation; Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Ataxia - paediatric v0.0 CYP27A1 Bryony Thompson gene: CYP27A1 was added
gene: CYP27A1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700
Ataxia - paediatric v0.0 CWF19L1 Bryony Thompson gene: CWF19L1 was added
gene: CWF19L1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17, 616127; Autosomal recessive spinocerebellar ataxia type 17, 616127
Ataxia - paediatric v0.0 CSTB Bryony Thompson gene: CSTB was added
gene: CSTB was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSTB were set to Progressive myoclonic epilepsy 1A, 254800; Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800
Ataxia - paediatric v0.0 C5orf42 Bryony Thompson gene: C5orf42 was added
gene: C5orf42 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C5orf42 were set to Joubert syndrome 17
Ataxia - paediatric v0.0 COX20 Bryony Thompson gene: COX20 was added
gene: COX20 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX20 were set to Mitochondrial complex IV deficiency, 220110; Mitochondrial complex IV deficiency
Ataxia - paediatric v0.0 COQ8A Bryony Thompson gene: COQ8A was added
gene: COQ8A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8A were set to Primary coenzyme Q10 deficiency 4, 612016; Spinocerebellar Ataxia Type; Coenzyme Q10 deficiency, primary 4, 612016
Ataxia - paediatric v0.0 CLPP Bryony Thompson gene: CLPP was added
gene: CLPP was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLPP were set to Perrault syndrome 3
Ataxia - paediatric v0.0 CLN6 Bryony Thompson gene: CLN6 was added
gene: CLN6 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN6 were set to Ceroid neuronal lipofuscinosis 6, 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300; Ceroid neuronal lipofuscinosis kufs type, 204300; Ceroid lipofuscinosis, neuronal, 6, 601780
Ataxia - paediatric v0.0 CLN5 Bryony Thompson gene: CLN5 was added
gene: CLN5 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN5 were set to Ceroid lipofuscinosis neuronal 5
Ataxia - paediatric v0.0 CEP41 Bryony Thompson gene: CEP41 was added
gene: CEP41 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP41 were set to Joubert syndrome 15
Ataxia - paediatric v0.0 CEP290 Bryony Thompson gene: CEP290 was added
gene: CEP290 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to Joubert syndrome 5
Ataxia - paediatric v0.0 CC2D2A Bryony Thompson gene: CC2D2A was added
gene: CC2D2A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D2A were set to Joubert syndrome 9
Ataxia - paediatric v0.0 CASK Bryony Thompson gene: CASK was added
gene: CASK was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: CASK were set to FG syndrome 4, 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
Ataxia - paediatric v0.0 CAPN1 Bryony Thompson gene: CAPN1 was added
gene: CAPN1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CAPN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAPN1 were set to Spastic paraplegia type 76, 616907
Ataxia - paediatric v0.0 CAMTA1 Bryony Thompson gene: CAMTA1 was added
gene: CAMTA1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CAMTA1 were set to Cerebellarataxia, nonprogressive, with mental retardation, 614756; Cerebellar ataxia with mental retardation, 614756
Ataxia - paediatric v0.0 CA8 Bryony Thompson gene: CA8 was added
gene: CA8 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CA8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA8 were set to Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3; Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227
Ataxia - paediatric v0.0 ATP8A2 Bryony Thompson gene: ATP8A2 was added
gene: ATP8A2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP8A2 were set to Cerebellar ataxia, mental retardation and dysequilibirum syndrome 4
Ataxia - paediatric v0.0 ATP2B3 Bryony Thompson gene: ATP2B3 was added
gene: ATP2B3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: ATP2B3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ATP2B3 were set to Spinocerebellar ataxia, X-linked 1
Ataxia - paediatric v0.0 ATG5 Bryony Thompson gene: ATG5 was added
gene: ATG5 was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: ATG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG5 were set to 26812546
Phenotypes for gene: ATG5 were set to ?Spinocerebellar ataxia, autosomal recessive 25
Ataxia - paediatric v0.0 ATCAY Bryony Thompson gene: ATCAY was added
gene: ATCAY was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATCAY was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATCAY were set to Cayman Ataxia, 601238; Cerebellar Ataxia, Cayman type; Ataxia, cerebellar, Cayman type
Ataxia - paediatric v0.0 ARSA Bryony Thompson gene: ARSA was added
gene: ARSA was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Metachromatic Leukodystrophy, 250100; Metachromatic leukodystrophy (#250100)
Ataxia - paediatric v0.0 ARMC9 Bryony Thompson gene: ARMC9 was added
gene: ARMC9 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARMC9 were set to Joubert syndrome 30
Ataxia - paediatric v0.0 ARL13B Bryony Thompson gene: ARL13B was added
gene: ARL13B was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL13B were set to Joubert syndrome 8
Ataxia - paediatric v0.0 APTX Bryony Thompson gene: APTX was added
gene: APTX was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; Ataxia with Oculomotor Apraxia; Early onset ataxia with oculomotor apraxia and hypoalbuminemia
Ataxia - paediatric v0.0 ALDH5A1 Bryony Thompson gene: ALDH5A1 was added
gene: ALDH5A1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH5A1 were set to Succinate-semialdehyde dehydrogenase deficiency
Ataxia - paediatric v0.0 AHI1 Bryony Thompson gene: AHI1 was added
gene: AHI1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHI1 were set to Joubert syndrome 3
Ataxia - paediatric v0.0 ADPRHL2 Bryony Thompson gene: ADPRHL2 was added
gene: ADPRHL2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADPRHL2 were set to Neurodegeneration, childhood-onset, stress-induced with variable ataxia and seizures, 618170
Ataxia - paediatric v0.0 ADGRG1 Bryony Thompson gene: ADGRG1 was added
gene: ADGRG1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRG1 were set to Polymicrogyria, Frontoparietal, 606854; Polymicrogyria, perisylvian type, 615752
Ataxia - paediatric v0.0 ACO2 Bryony Thompson gene: ACO2 was added
gene: ACO2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACO2 were set to Infantile cerebellar-retinal degeneration
Ataxia - paediatric v0.0 ABCB7 Bryony Thompson gene: ABCB7 was added
gene: ABCB7 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ABCB7 were set to Anemia, sideroblastic, with ataxia; Sideroblastic Anemia and Ataxia; Anemia, sideroblast with ataxia, 300135
Ataxia - paediatric v0.0 Bryony Thompson Added panel Ataxia - paediatric_RMH
Ataxia - adult onset v0.0 ZFYVE26 Bryony Thompson gene: ZFYVE26 was added
gene: ZFYVE26 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFYVE26 were set to 24367272; 18394578
Phenotypes for gene: ZFYVE26 were set to Autosomal recessive spastic paraplegia 15, 270700
Ataxia - adult onset v0.0 PRRT2 Bryony Thompson gene: PRRT2 was added
gene: PRRT2 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRRT2 were set to 26598494; 31193310; 30501978; 30713971
Phenotypes for gene: PRRT2 were set to Familial infantile convulsions with paroxysmal dyskinesia 1, 602066; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; episodic kinesigenic dyskinesia; dystonia and occasionally hemiplegic migraine and epilepsy; episodic kinesigenic dyskinesia, 128200; EPISODIC KINESIGENIC DYSKINESIA 1; SEIZURES, BENIGN FAMILIAL INFANTILE, 2
Ataxia - adult onset v0.0 NOL3 Bryony Thompson gene: NOL3 was added
gene: NOL3 was added to Ataxia - adult onset_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: NOL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NOL3 were set to 22926851
Phenotypes for gene: NOL3 were set to Myoclonus, familial cortical
Ataxia - adult onset v0.0 ITM2B Bryony Thompson gene: ITM2B was added
gene: ITM2B was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ITM2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ITM2B were set to Cerebellar ataxia, cataract, deafness, and dementia or psychosis; Danish familial dementia
Ataxia - adult onset v0.0 DNAJC5 Bryony Thompson gene: DNAJC5 was added
gene: DNAJC5 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DNAJC5 were set to Ceroid lipofuscinosis, neuronal, 4, Parry type 162350; Ceroid neuronal lipofuscinosis 4, Parry type, 162350
Ataxia - adult onset v0.0 ATP7B Bryony Thompson gene: ATP7B was added
gene: ATP7B was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP7B were set to Wilson disease 277900; Wilson disease, 277900
Ataxia - adult onset v0.0 ATP1A2 Bryony Thompson gene: ATP1A2 was added
gene: ATP1A2 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP1A2 were set to Alternating hemiplegia of childhood 1, 104290; Familial hemiplegic migraine 2, 602481
Ataxia - adult onset v0.0 ABCD1 Bryony Thompson gene: ABCD1 was added
gene: ABCD1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ABCD1 were set to Adrenoleukodystrophy
Ataxia - adult onset v0.0 AAAS Bryony Thompson gene: AAAS was added
gene: AAAS was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AAAS were set to Triple A syndrome, 231550; Achalasia-addisonianism-alacrimia syndrome, 231550
Ataxia - adult onset v0.0 SYT14 Bryony Thompson gene: SYT14 was added
gene: SYT14 was added to Ataxia - adult onset_RMH. Sources: Expert Review Red,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: SYT14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SYT14 were set to 21835308
Phenotypes for gene: SYT14 were set to ?Spinocerebellarataxia,autosomalrecessive11,614229
Ataxia - adult onset v0.0 CACNB4 Bryony Thompson gene: CACNB4 was added
gene: CACNB4 was added to Ataxia - adult onset_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNB4 were set to 10762541; 27003325; 9628818
Phenotypes for gene: CACNB4 were set to Episodic ataxia type 5, 613855
Ataxia - adult onset v0.0 VWA3B Bryony Thompson gene: VWA3B was added
gene: VWA3B was added to Ataxia - adult onset_RMH. Sources: GeneReviews,Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: VWA3B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VWA3B were set to 26157035
Phenotypes for gene: VWA3B were set to ?Spinocerebellar ataxia, autosomal recessive 22
Ataxia - adult onset v0.0 PLD3 Bryony Thompson gene: PLD3 was added
gene: PLD3 was added to Ataxia - adult onset_RMH. Sources: GeneReviews,Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: PLD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PLD3 were set to 30312375; 30312384; 29053796
Phenotypes for gene: PLD3 were set to ?Spinocerebellar ataxia 46
Ataxia - adult onset v0.0 FAT2 Bryony Thompson gene: FAT2 was added
gene: FAT2 was added to Ataxia - adult onset_RMH. Sources: GeneReviews,Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: FAT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FAT2 were set to 29053796
Phenotypes for gene: FAT2 were set to Spinocerebellar ataxia 45
Ataxia - adult onset v0.0 MME Bryony Thompson gene: MME was added
gene: MME was added to Ataxia - adult onset_RMH. Sources: Expert Review Red,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: MME was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MME were set to 27583304
Phenotypes for gene: MME were set to ?Spinocerebellar ataxia type 43, 617018
Ataxia - adult onset v0.0 TRPC3 Bryony Thompson gene: TRPC3 was added
gene: TRPC3 was added to Ataxia - adult onset_RMH. Sources: GeneReviews,Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: TRPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRPC3 were set to 25477146; 26112884
Ataxia - adult onset v0.0 CCDC88C Bryony Thompson gene: CCDC88C was added
gene: CCDC88C was added to Ataxia - adult onset_RMH. Sources: GeneReviews,Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: CCDC88C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CCDC88C were set to 25062847; 30398676
Phenotypes for gene: CCDC88C were set to autosomal dominant spinocerebellar ataxia; ?Spinocerebellar ataxia 40, 616053
Ataxia - adult onset v0.0 TGM6 Bryony Thompson gene: TGM6 was added
gene: TGM6 was added to Ataxia - adult onset_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: TGM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TGM6 were set to 25253745; 21106500; 28934387; 22554020; 30670339; 29053796; 23206699
Phenotypes for gene: TGM6 were set to Spinocerebellar ataxia 35, 613908; Spinocerebellar ataxia 35
Ataxia - adult onset v0.0 EEF2 Bryony Thompson gene: EEF2 was added
gene: EEF2 was added to Ataxia - adult onset_RMH. Sources: Expert Review Red,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EEF2 were set to 15732118; 23001565
Phenotypes for gene: EEF2 were set to ?Spinocerebellar ataxia 26
Ataxia - adult onset v0.0 XRCC1 Bryony Thompson gene: XRCC1 was added
gene: XRCC1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC1 were set to 29472272; 28002403
Phenotypes for gene: XRCC1 were set to ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia; Autosomal recessive spinocerebellar ataxia 26, 617633
Ataxia - adult onset v0.0 VPS13D Bryony Thompson gene: VPS13D was added
gene: VPS13D was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: VPS13D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13D were set to Spinocerebellar ataxia, autosomal recessive 4, 607317; Autosomal recessive spinocerebellar ataxia 4, 608877
Ataxia - adult onset v0.0 VAMP1 Bryony Thompson gene: VAMP1 was added
gene: VAMP1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: VAMP1 were set to Autosomal dominant spastic ataxia 1, 108600; Spastic ataxia 1, autosomal dominant, 108600
Ataxia - adult onset v0.0 TTPA Bryony Thompson gene: TTPA was added
gene: TTPA was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency; Ataxia with Vitamin E Deficiency; Ataxia with isolated vitamin E deficiency, 277460
Ataxia - adult onset v0.0 TTBK2 Bryony Thompson gene: TTBK2 was added
gene: TTBK2 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TTBK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TTBK2 were set to Spinocerebellar ataxia 11, 604432; Spinocerebellar ataxia 11
Ataxia - adult onset v0.0 TMEM240 Bryony Thompson gene: TMEM240 was added
gene: TMEM240 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TMEM240 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TMEM240 were set to Spinocerebellar ataxia 21, 607454
Ataxia - adult onset v0.0 TDP1 Bryony Thompson gene: TDP1 was added
gene: TDP1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDP1 were set to 31182267
Phenotypes for gene: TDP1 were set to Autosomal recessive spinocerebellar ataxia with axonal neuropathy, 607250; Spinocerebellar ataxia, autosomal recessive with axonal neuropathy
Ataxia - adult onset v0.0 SYNE1 Bryony Thompson gene: SYNE1 was added
gene: SYNE1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SYNE1 were set to Spinocerebellar ataxia, autosomal recessive 8; Cerebellar Ataxia; Autosomal recessive spinocerebellar ataxia type 8
Ataxia - adult onset v0.0 STUB1 Bryony Thompson gene: STUB1 was added
gene: STUB1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: STUB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STUB1 were set to Autosomal recessive spinocerebellar ataxia type 16, 615768; Spinocerebellar ataxia, autosomal recessive 16
Ataxia - adult onset v0.0 SPTBN2 Bryony Thompson gene: SPTBN2 was added
gene: SPTBN2 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPTBN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SPTBN2 were set to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; Spinocerebellar ataxia 5; Spinocerebellar ataxia 5, 600224; SPINOCEREBELLAR ATAXIA 5 (autosomal dominant); Spinocerebellar ataxia, autosomal recessive 14; Spinocerebellar Ataxia, Dominant; Autosomal recessive spinocerebellar ataxia 14, 615386
Ataxia - adult onset v0.0 SPG7 Bryony Thompson gene: SPG7 was added
gene: SPG7 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPG7 were set to Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia; Autosomal recessive spastic paraplegia 7, 607259
Ataxia - adult onset v0.0 SETX Bryony Thompson gene: SETX was added
gene: SETX was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SETX were set to Autosomal recessive spinocerebellar ataxia type 1, 606002; ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia; Ataxia-ocular apraxia-2
Ataxia - adult onset v0.0 SAMD9L Bryony Thompson gene: SAMD9L was added
gene: SAMD9L was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SAMD9L were set to Ataxia-pancytopenia syndrome, 159550
Ataxia - adult onset v0.0 SACS Bryony Thompson gene: SACS was added
gene: SACS was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type; Charlevoix-Saguenay spastic ataxia, 270550
Ataxia - adult onset v0.0 RNF216 Bryony Thompson gene: RNF216 was added
gene: RNF216 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotrophic hypogonadism; Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
Ataxia - adult onset v0.0 RNF170 Bryony Thompson gene: RNF170 was added
gene: RNF170 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RNF170 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RNF170 were set to Ataxia, sensory, 1, autosomal dominant; Autosomal dominant sensory ataxia 1, 608984
Ataxia - adult onset v0.0 PUM1 Bryony Thompson gene: PUM1 was added
gene: PUM1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PUM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PUM1 were set to Spinocerebellar ataxia 47, 617931
Ataxia - adult onset v0.0 PRNP Bryony Thompson gene: PRNP was added
gene: PRNP was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRNP were set to Multiple allelic disorders reported; Huntington disease-like 1; Autosomal Dominant Ataxia; Gerstmann-Straussler disease; Insomnia, fatal familial; Creutzfeldt-Jakob disease
Ataxia - adult onset v0.0 PRKCG Bryony Thompson gene: PRKCG was added
gene: PRKCG was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PRKCG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRKCG were set to Spinocerebellar ataxia 14; Spincocerebellar ataxia 14, 605361
Ataxia - adult onset v0.0 POLG Bryony Thompson gene: POLG was added
gene: POLG was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Mitochondrial recessive ataxia syndrome, 607459; Mitochondrial DNA depletion types 4A, 203700 and 4B, 613662; autosomal recessive progressive external opthalmoplegia, 258450; autosomal dominant progressive external ophthalmoplegia, 157640
Ataxia - adult onset v0.0 PNPLA6 Bryony Thompson gene: PNPLA6 was added
gene: PNPLA6 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA6 were set to Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients; Boucher-Neuhauser syndrome, 215470; Sapstic paraplegia 39, 612020; Oliver-McFarlane syndrome (#603197); Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470); Oliver-McFarlane syndrome, 275400
Ataxia - adult onset v0.0 PDYN Bryony Thompson gene: PDYN was added
gene: PDYN was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PDYN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PDYN were set to Spinocerebellar ataxia 23; Spinocerebellar ataxia 23, 610245
Ataxia - adult onset v0.0 NOP56 Bryony Thompson gene: NOP56 was added
gene: NOP56 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NOP56 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NOP56 were set to Spinocerebellarataxia36,614153
Ataxia - adult onset v0.0 MSTO1 Bryony Thompson gene: MSTO1 was added
gene: MSTO1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MSTO1 were set to Mitochondrial myopathy and ataxia, 617675
Ataxia - adult onset v0.0 KIF1C Bryony Thompson gene: KIF1C was added
gene: KIF1C was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1C were set to Spastic ataxia 2,autosomal recessive; Autosomal recessive spastic ataxia 2, 611302
Ataxia - adult onset v0.0 KCND3 Bryony Thompson gene: KCND3 was added
gene: KCND3 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCND3 were set to Spinocerebellar ataxia 19, 607346; Spinocerebellarataxia19, 607346
Ataxia - adult onset v0.0 KCNC3 Bryony Thompson gene: KCNC3 was added
gene: KCNC3 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNC3 were set to Spinocerebellar ataxia 13; Spinocerebellar ataxia 13, 605259
Ataxia - adult onset v0.0 ITPR1 Bryony Thompson gene: ITPR1 was added
gene: ITPR1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ITPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ITPR1 were set to Gillespie syndrome, 206700; Spinocerebellar ataxia 29; Spinocerebellar ataxia 29, 117360; Spinocerebellar ataxia 15; Spinocerebellar ataxia 15, 606658
Ataxia - adult onset v0.0 GFAP Bryony Thompson gene: GFAP was added
gene: GFAP was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GFAP were set to Alexander disease, 203450; Autosomal Dominant Ataxia; Alexander disease
Ataxia - adult onset v0.0 GDAP2 Bryony Thompson gene: GDAP2 was added
gene: GDAP2 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GDAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GDAP2 were set to Autosomal recessive spinocerebellar ataxia
Ataxia - adult onset v0.0 FXN Bryony Thompson gene: FXN was added
gene: FXN was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FXN were set to Friedreich ataxia with retained reflexes,229300; Friedreich ataxia, 229300; Friedreichataxia, 229300
Ataxia - adult onset v0.0 FMR1 Bryony Thompson gene: FMR1 was added
gene: FMR1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FMR1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FMR1 were set to FragileXtremor/ataxiasyndrome,300623; males with a tremor phenotype; Fragile X tremor/ataxia syndrome; FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI)
Ataxia - adult onset v0.0 FLVCR1 Bryony Thompson gene: FLVCR1 was added
gene: FLVCR1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLVCR1 were set to Posterior column ataxia with retinitis pigmentosa, 609033; Ataxia, posterior column, with retinitis pigmentosa,; Posterior Column Ataxia with Retinitis Pigmentosa
Ataxia - adult onset v0.0 FGF14 Bryony Thompson gene: FGF14 was added
gene: FGF14 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FGF14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGF14 were set to Spinocerebellar ataxia type 27, 609307; Spinocerebellar ataxia 27
Ataxia - adult onset v0.0 ELOVL5 Bryony Thompson gene: ELOVL5 was added
gene: ELOVL5 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ELOVL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ELOVL5 were set to Spinocerebellar ataxia 38, 615957; Spinocerebellar ataxia 36 615957
Ataxia - adult onset v0.0 ELOVL4 Bryony Thompson gene: ELOVL4 was added
gene: ELOVL4 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ELOVL4 were set to Spinocerebellar ataxia 34 133190; Spinocerebellar ataxia 34, 133190
Ataxia - adult onset v0.0 EIF2B5 Bryony Thompson gene: EIF2B5 was added
gene: EIF2B5 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B5 were set to 31438897
Phenotypes for gene: EIF2B5 were set to Leukoencephalopathy with vanishing white matter, 603896; Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Ataxia - adult onset v0.0 EIF2B4 Bryony Thompson gene: EIF2B4 was added
gene: EIF2B4 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B4 were set to 31438897
Phenotypes for gene: EIF2B4 were set to Leukoencephalopathy with vanishing white matter, 603896; Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Ataxia - adult onset v0.0 EIF2B3 Bryony Thompson gene: EIF2B3 was added
gene: EIF2B3 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B3 were set to 31438897
Phenotypes for gene: EIF2B3 were set to Leukoencephalopathy with vanishing white matter, 603896; Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Ataxia - adult onset v0.0 EIF2B2 Bryony Thompson gene: EIF2B2 was added
gene: EIF2B2 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B2 were set to 31438897
Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, 603896; Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Ataxia - adult onset v0.0 EIF2B1 Bryony Thompson gene: EIF2B1 was added
gene: EIF2B1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B1 were set to 31438897
Phenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter, 603896; Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Ataxia - adult onset v0.0 DNMT1 Bryony Thompson gene: DNMT1 was added
gene: DNMT1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DNMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DNMT1 were set to Cerebellar ataxia, deafness and narcolepsy, 604121; Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,; Hereditary sensory neuropathy type IE, 614116
Ataxia - adult onset v0.0 CP Bryony Thompson gene: CP was added
gene: CP was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CP were set to Aceruloplasminemia, 604290; Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Ataxia - adult onset v0.0 COA7 Bryony Thompson gene: COA7 was added
gene: COA7 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COA7 were set to Spinocerebellar ataxia with axonal neuropathy
Ataxia - adult onset v0.0 CLCN2 Bryony Thompson gene: CLCN2 was added
gene: CLCN2 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CLCN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CLCN2 were set to {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; Leukoencephalopathy with ataxia, 615651; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628
Ataxia - adult onset v0.0 CACNA1G Bryony Thompson gene: CACNA1G was added
gene: CACNA1G was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CACNA1G were set to early-onset SCA42 with neurodevelopmental deficits, 618087; Spinocerebellar ataxia 42, 616795
Ataxia - adult onset v0.0 CACNA1A Bryony Thompson gene: CACNA1A was added
gene: CACNA1A was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1A were set to Spinocerebellar ataxia 6; familial hemiplegic migraine type 1, 141500; Familial hemiplegic migraine 1, 141500; SCA6, 183086; episodic ataxia type 2 (EA2),108500; Episodic ataxia type 2, 108500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia; Episodic ataxia, type 2
Ataxia - adult onset v0.0 ATP1A3 Bryony Thompson gene: ATP1A3 was added
gene: ATP1A3 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP1A3 were set to CAPOS syndrome, 601338; Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338); Dystonia-12, 128235; Alternating hemiplegia of childhood 2, 614820; DYSTONIA 12, 128235; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820; Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235)
Ataxia - adult onset v0.0 ATM Bryony Thompson gene: ATM was added
gene: ATM was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Ataxia-telangiectasia, 607585; Ataxia-Telangiectasia
Ataxia - adult onset v0.0 ANO10 Bryony Thompson gene: ANO10 was added
gene: ANO10 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANO10 were set to Spinocerebellar ataxia autosomal recessive type 10, 613728; Spinocerebellar ataxia, autosomal recessive 10
Ataxia - adult onset v0.0 AFG3L2 Bryony Thompson gene: AFG3L2 was added
gene: AFG3L2 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: AFG3L2 were set to Ataxia, spastic, 5, autosomal recessive; spastic ataxia 5, 614487; Spinocerebellar ataxia 28; Spinocerebellar ataxia 28, 610246; Spinocerebellar Ataxia, Dominant
Ataxia - adult onset v0.0 ABHD12 Bryony Thompson gene: ABHD12 was added
gene: ABHD12 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD12 were set to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract, 612674; Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Ataxia - adult onset v0.0 Bryony Thompson Added panel Ataxia - adult onset_RMH
Haematuria_Alport v0.5 Zornitza Stark Panel name changed from Haematuria_VCGS to Haematuria_VCGS_KidGen
Haematuria_Alport v0.4 COL4A2 Zornitza Stark Marked gene: COL4A2 as ready
Haematuria_Alport v0.4 COL4A2 Zornitza Stark Gene: col4a2 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.4 COL4A2 Zornitza Stark Phenotypes for gene: COL4A2 were changed from to Brain small vessel disease 2, MIM#614483
Haematuria_Alport v0.3 COL4A2 Zornitza Stark Mode of inheritance for gene: COL4A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematuria_Alport v0.2 COL4A2 Zornitza Stark Classified gene: COL4A2 as Red List (low evidence)
Haematuria_Alport v0.2 COL4A2 Zornitza Stark Gene: col4a2 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.1 COL4A2 Zornitza Stark changed review comment from: No association with nephropathy.; to: No association with nephropathy identified.
Haematuria_Alport v0.1 COL4A2 Zornitza Stark reviewed gene: COL4A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Brain small vessel disease 2, MIM#614483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematuria_Alport v0.1 Zornitza Stark Panel name changed from Alport syndrome extended_VCGS to Haematuria_VCGS
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.28 CEP55 Zornitza Stark Marked gene: CEP55 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.28 CEP55 Zornitza Stark Gene: cep55 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.28 CEP55 Zornitza Stark Classified gene: CEP55 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.28 CEP55 Zornitza Stark Gene: cep55 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.27 CEP55 Zornitza Stark Publications for gene: CEP55 were set to 28295209; 28264986
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.27 CEP55 Zornitza Stark Classified gene: CEP55 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.27 CEP55 Zornitza Stark Gene: cep55 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.26 CEP55 Zornitza Stark gene: CEP55 was added
gene: CEP55 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review
Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP55 were set to 28295209; 28264986
Phenotypes for gene: CEP55 were set to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM#236500
Review for gene: CEP55 was set to GREEN
Added comment: Two unrelated families and animal model.
Sources: Expert Review
Mendeliome v0.371 KCNT2 Zornitza Stark Marked gene: KCNT2 as ready
Mendeliome v0.371 KCNT2 Zornitza Stark Gene: kcnt2 has been classified as Green List (High Evidence).
Mendeliome v0.371 KCNT2 Zornitza Stark Classified gene: KCNT2 as Green List (high evidence)
Mendeliome v0.371 KCNT2 Zornitza Stark Gene: kcnt2 has been classified as Green List (High Evidence).
Mendeliome v0.370 KCNT2 Zornitza Stark gene: KCNT2 was added
gene: KCNT2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: KCNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNT2 were set to 29069600; 29740868
Phenotypes for gene: KCNT2 were set to Epileptic encephalopathy, early infantile, 57, MIM#617771; Developmental and epileptic encephalopathy
Review for gene: KCNT2 was set to GREEN
Added comment: Reviewed by E Palmer: Ambrosino et al described 2 unrelated females with de novo variants in KCNT2. The first patient had the variant p.(Arg190His) had with West syndrome followed by Lennox-Gastaut syndrome , the second patient had the variant p.(Arg190Pro) and DEE with migrating focal seizures. Both variants were absent gnomad and had supportive in silico support for pathogenicity. In an electrophisological model both KCNT2 R190P and KCNT2 R190H increased maximal current density and shifted toward more negative membrane potential values the activation curve of KCNT2 channels, consistent with gain of function effects. PMID: 29740868.

Gururaj et al describe one male with de novo variant in KCNT2 p. (Phe240Leu) and early infantile epileptic encephalopathy. he variant was absent gnomad and supportive evidence of pathogenicity This variant was electrophysiologically modelled and revealed that the variant resulted in a 'change in function' demonstrating unusual altered selectivity in KNa channels.PMID: 29069600.
Sources: Literature
Genetic Epilepsy v0.55 KCNT2 Zornitza Stark Marked gene: KCNT2 as ready
Genetic Epilepsy v0.55 KCNT2 Zornitza Stark Gene: kcnt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.55 KCNT2 Zornitza Stark Phenotypes for gene: KCNT2 were changed from Developmental and epileptic encephalopathy to Epileptic encephalopathy, early infantile, 57, MIM#617771; Developmental and epileptic encephalopathy
Genetic Epilepsy v0.54 KCNT2 Zornitza Stark Publications for gene: KCNT2 were set to (PMID: 29069600; 29740868)
Genetic Epilepsy v0.53 KCNT2 Zornitza Stark Classified gene: KCNT2 as Green List (high evidence)
Genetic Epilepsy v0.53 KCNT2 Zornitza Stark Gene: kcnt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.52 ASNS Zornitza Stark Marked gene: ASNS as ready
Genetic Epilepsy v0.52 ASNS Zornitza Stark Gene: asns has been classified as Green List (High Evidence).
Genetic Epilepsy v0.52 ASNS Zornitza Stark Phenotypes for gene: ASNS were changed from microcephaly; cerebral atrophy; drug-resistant epilepsy; axial hypotonia; progressive appendicular spasticity; abnormal myelination to Asparagine synthetase deficiency, MIM#615574; microcephaly; cerebral atrophy; drug-resistant epilepsy; axial hypotonia; progressive appendicular spasticity; abnormal myelination
Genetic Epilepsy v0.51 ASNS Zornitza Stark Publications for gene: ASNS were set to (PMID 24139043; 25227173; 29279279; 27469131; 28776279; 29375865; 26318253)
Genetic Epilepsy v0.50 ASNS Zornitza Stark Classified gene: ASNS as Green List (high evidence)
Genetic Epilepsy v0.50 ASNS Zornitza Stark Gene: asns has been classified as Green List (High Evidence).
Genetic Epilepsy v0.49 CLCN4 Zornitza Stark Marked gene: CLCN4 as ready
Genetic Epilepsy v0.49 CLCN4 Zornitza Stark Gene: clcn4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.49 CLCN4 Zornitza Stark Phenotypes for gene: CLCN4 were changed from to Raynaud-Claes syndrome, MIM#300114; intellectual disability; epilepsy; autistic features; mood disorders; cerebral white matter changes; progressive appendicular spasticity
Genetic Epilepsy v0.48 CLCN4 Zornitza Stark Publications for gene: CLCN4 were set to
Genetic Epilepsy v0.47 CLCN4 Zornitza Stark Mode of inheritance for gene: CLCN4 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.1432 CLCN4 Zornitza Stark Marked gene: CLCN4 as ready
Intellectual disability syndromic and non-syndromic v0.1432 CLCN4 Zornitza Stark Gene: clcn4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1432 CLCN4 Zornitza Stark Phenotypes for gene: CLCN4 were changed from to Raynaud-Claes syndrome, MIM#300114; intellectual disability; epilepsy; autistic features; mood disorders; cerebral white matter changes; progressive appendicular spasticity
Intellectual disability syndromic and non-syndromic v0.1431 CLCN4 Zornitza Stark Mode of inheritance for gene: CLCN4 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.1430 CLCN4 Zornitza Stark Publications for gene: CLCN4 were set to
Autism v0.17 ZSWIM6 Zornitza Stark Marked gene: ZSWIM6 as ready
Autism v0.17 ZSWIM6 Zornitza Stark Gene: zswim6 has been classified as Green List (High Evidence).
Autism v0.17 ZSWIM6 Zornitza Stark Publications for gene: ZSWIM6 were set to (PMID: 29198722)
Autism v0.16 ZSWIM6 Zornitza Stark Classified gene: ZSWIM6 as Green List (high evidence)
Autism v0.16 ZSWIM6 Zornitza Stark Gene: zswim6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1429 CLCN4 Elizabeth Palmer reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: None; Publications: (PMID: 27550844); Phenotypes: intellectual disability, epilepsy, autistic features, mood disorders, cerebral white matter changes, progressive appendicular spasticity; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.46 CLCN4 Elizabeth Palmer reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: None; Publications: (PMID: 27550844); Phenotypes: intellectual disability, epilepsy, autistic features, mood disorders, cerebral white matter changes, progressive appendicular spasticity; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.46 ASNS Elizabeth Palmer gene: ASNS was added
gene: ASNS was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASNS were set to (PMID 24139043; 25227173; 29279279; 27469131; 28776279; 29375865; 26318253)
Phenotypes for gene: ASNS were set to microcephaly; cerebral atrophy; drug-resistant epilepsy; axial hypotonia; progressive appendicular spasticity; abnormal myelination
Penetrance for gene: ASNS were set to Complete
Mode of pathogenicity for gene: ASNS was set to Other
Review for gene: ASNS was set to GREEN
Added comment: Drug resistant seizures are common (12/17 reported cases) in Asparagine Synthetase deficiency. Reported variants are missense variants (homozygous or compound heterozygous) in the highly conserved asparagine synthetase domain and result in reduced enzymatic activity.
Sources: Literature
Autism v0.15 ZSWIM6 Elizabeth Palmer gene: ZSWIM6 was added
gene: ZSWIM6 was added to Autism_VCGS. Sources: Literature
Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZSWIM6 were set to (PMID: 29198722)
Phenotypes for gene: ZSWIM6 were set to NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES; NEDMAGA
Penetrance for gene: ZSWIM6 were set to Complete
Mode of pathogenicity for gene: ZSWIM6 was set to Other
Review for gene: ZSWIM6 was set to GREEN
Added comment: In our 2017 paper autistic features were prominent in the 7 published patients with a recurrent de novo variant in ZSWIM6 R913X. The mutant transcript escapes nonsense mediated decay and therefore likely produces a truncated protein. Palmer, E. E., Kumar, R., Gordon, C. T., Shaw, M., Hubert, L., Carroll, R., Rio, M., Murray, L., Leffler, M., Dudding-Byth, T., Oufadem, M., Lalani, S. R., and 31 others. A recurrent de novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformations. Am. J. Hum. Genet. 101: 995-1005, 2017. [PubMed: 29198722]
Sources: Literature
Renal Cystic Disease_SuperPanel v0.0 Zornitza Stark Added Panel Renal cystic disease_SuperPanel_KidGen_VCGS
Set child panels to: Renal macrocystic disease_KidGen_VCGS; Renal ciliopathies and nephronophthisis_KidGen
Set panel types to: Superpanel
Renal Macrocystic Disease v0.10 Chirag Patel Panel name changed from Renal cystic disease_KidGen_VCGS to Renal macrocystic disease_KidGen_VCGS
Intellectual disability syndromic and non-syndromic v0.1429 ZSWIM6 Elizabeth Palmer reviewed gene: ZSWIM6: Rating: GREEN; Mode of pathogenicity: Other; Publications: (PMID:: 29198722); Phenotypes: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES, NEDMAGA; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Genetic Epilepsy v0.46 ATN1 Elizabeth Palmer reviewed gene: ATN1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.46 KCNT2 Elizabeth Palmer gene: KCNT2 was added
gene: KCNT2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: KCNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNT2 were set to (PMID: 29069600; 29740868)
Phenotypes for gene: KCNT2 were set to Developmental and epileptic encephalopathy
Penetrance for gene: KCNT2 were set to Complete
Mode of pathogenicity for gene: KCNT2 was set to Other
Review for gene: KCNT2 was set to GREEN
Added comment: A.


Ambrosino et al described 2 unrelated females with de novo variants in KCNT2. The first patient had the variant p.(Arg190His) had with West syndrome followed by Lennox-Gastaut syndrome , the second patient had the variant p.(Arg190Pro) and DEE with migrating focal seizures. Both variants were absent gnomad and had supportive in silico support for pathogenicity. In an electrophisological model both KCNT2 R190P and KCNT2 R190H increased maximal current density and shifted toward more negative membrane potential values the activation curve of KCNT2 channels, consistent with gain of function effects. PMID: 29740868.

Gururaj et al describe one male with de novo variant in KCNT2 p. (Phe240Leu) and early infantile epileptic encephalopathy. he variant was absent gnomad and supportive evidence of pathogenicity This variant was electrophysiologically modelled and revealed that the variant resulted in a 'change in function' demonstrating unusual altered selectivity in KNa channels.PMID: 29069600.
Sources: Literature
Renal Glomerular Disease_SuperPanel v0.1 Zornitza Stark Panel status changed from internal to public
Renal Glomerular Disease_SuperPanel v0.0 Zornitza Stark Added Panel Renal glomerular disease_SuperPanel_VCGS_KidGen
Set child panels to: Nephrotic Syndrome_VCGS; Alport syndrome extended_VCGS
Set panel types to: Superpanel
Genetic Epilepsy v0.46 ATP1A1 Zornitza Stark Marked gene: ATP1A1 as ready
Genetic Epilepsy v0.46 ATP1A1 Zornitza Stark Gene: atp1a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.46 ATP1A1 Zornitza Stark Classified gene: ATP1A1 as Green List (high evidence)
Genetic Epilepsy v0.46 ATP1A1 Zornitza Stark Gene: atp1a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.45 ATP1A1 Zornitza Stark gene: ATP1A1 was added
gene: ATP1A1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A1 were set to 30388404
Phenotypes for gene: ATP1A1 were set to Intellectual disability; seizures; hypomagnesaemia
Review for gene: ATP1A1 was set to GREEN
Added comment: Three infants with de novo missense variants in this gene; seizures persisted despite correction of magnesium, intellectual disability is part of the phenotype. Note gene is also linked to CMT and possibly HSP.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1429 ATP1A1 Zornitza Stark Marked gene: ATP1A1 as ready
Intellectual disability syndromic and non-syndromic v0.1429 ATP1A1 Zornitza Stark Gene: atp1a1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1429 ATP1A1 Zornitza Stark Classified gene: ATP1A1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1429 ATP1A1 Zornitza Stark Gene: atp1a1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1428 ATP1A1 Zornitza Stark gene: ATP1A1 was added
gene: ATP1A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A1 were set to 30388404
Phenotypes for gene: ATP1A1 were set to Intellectual disability; seizures; hypomagnesaemia
Review for gene: ATP1A1 was set to GREEN
Added comment: Three infants with de novo missense variants in this gene; seizures persisted despite correction of magnesium, intellectual disability is part of the phenotype. Note gene is also linked to CMT and possibly HSP.
Sources: Literature
Mendeliome v0.369 PLS1 Zornitza Stark Marked gene: PLS1 as ready
Mendeliome v0.369 PLS1 Zornitza Stark Gene: pls1 has been classified as Green List (High Evidence).
Mendeliome v0.369 PLS1 Zornitza Stark Classified gene: PLS1 as Green List (high evidence)
Mendeliome v0.369 PLS1 Zornitza Stark Gene: pls1 has been classified as Green List (High Evidence).
Mendeliome v0.368 PLS1 Zornitza Stark gene: PLS1 was added
gene: PLS1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PLS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLS1 were set to 31397523; 31432506; 30872814
Phenotypes for gene: PLS1 were set to Deafness
Review for gene: PLS1 was set to GREEN
Added comment: Non-syndromic deafness in 5 families with mono allelic variants in this gene. Mouse model.
Sources: Literature
Deafness_IsolatedAndComplex v0.6 PLS1 Zornitza Stark Marked gene: PLS1 as ready
Deafness_IsolatedAndComplex v0.6 PLS1 Zornitza Stark Gene: pls1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.6 PLS1 Zornitza Stark Classified gene: PLS1 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.6 PLS1 Zornitza Stark Gene: pls1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.5 PLS1 Zornitza Stark gene: PLS1 was added
gene: PLS1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: PLS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLS1 were set to 31397523; 31432506; 30872814
Phenotypes for gene: PLS1 were set to Deafness
Review for gene: PLS1 was set to GREEN
Added comment: Non-syndromic deafness in 5 families with mono allelic variants in this gene. Mouse model.
Sources: Literature
Mendeliome v0.367 TASP1 Zornitza Stark Marked gene: TASP1 as ready
Mendeliome v0.367 TASP1 Zornitza Stark Gene: tasp1 has been classified as Green List (High Evidence).
Mendeliome v0.367 TASP1 Zornitza Stark Classified gene: TASP1 as Green List (high evidence)
Mendeliome v0.367 TASP1 Zornitza Stark Gene: tasp1 has been classified as Green List (High Evidence).
Mendeliome v0.366 TASP1 Zornitza Stark gene: TASP1 was added
gene: TASP1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: TASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TASP1 were set to 31209944; 31350873
Phenotypes for gene: TASP1 were set to Developmental delay; microcephaly; dysmorphic features; congenital abnormalities
Review for gene: TASP1 was set to GREEN
Added comment: Four unrelated families reported; two with founder mutation. Protein interacts with KMT2A and KMT2D. Another infant with a de novo missense variant reported in a single infant with multiple congenital abnormalities, insufficient evidence for mono allelic disease at present.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1427 TASP1 Zornitza Stark Marked gene: TASP1 as ready
Intellectual disability syndromic and non-syndromic v0.1427 TASP1 Zornitza Stark Gene: tasp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1427 TASP1 Zornitza Stark Classified gene: TASP1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1427 TASP1 Zornitza Stark Gene: tasp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1426 TASP1 Zornitza Stark gene: TASP1 was added
gene: TASP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: TASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TASP1 were set to 31209944; 31350873
Phenotypes for gene: TASP1 were set to Developmental delay; microcephaly; dysmorphic features; congenital abnormalities
Review for gene: TASP1 was set to GREEN
Added comment: Four unrelated families reported; two with founder mutation. Protein interacts with KMT2A and KMT2D. Another infant with a de novo missense variant reported in a single infant with multiple congenital abnormalities, insufficient evidence for mono allelic disease at present.
Sources: Literature
Mendeliome v0.365 FST Zornitza Stark gene: FST was added
gene: FST was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: FST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FST were set to 31215115
Phenotypes for gene: FST were set to Cleft lip and palate
Review for gene: FST was set to RED
Added comment: Single family reported.
Sources: Literature
Mendeliome v0.364 GDF11 Zornitza Stark Marked gene: GDF11 as ready
Mendeliome v0.364 GDF11 Zornitza Stark Gene: gdf11 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.364 GDF11 Zornitza Stark Classified gene: GDF11 as Amber List (moderate evidence)
Mendeliome v0.364 GDF11 Zornitza Stark Gene: gdf11 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.363 GDF11 Zornitza Stark gene: GDF11 was added
gene: GDF11 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: GDF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GDF11 were set to 31215115
Phenotypes for gene: GDF11 were set to Cleft lip and palate
Review for gene: GDF11 was set to AMBER
Added comment: Cleft lip and palate, and rib and vertebral hypersegmentation in a single family. Mouse model.
Sources: Literature
Macrocephaly_Megalencephaly v0.7 MLC1 Tiong Tan Classified gene: MLC1 as Green List (high evidence)
Macrocephaly_Megalencephaly v0.7 MLC1 Tiong Tan Gene: mlc1 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.6 MLC1 Tiong Tan Marked gene: MLC1 as ready
Macrocephaly_Megalencephaly v0.6 MLC1 Tiong Tan Gene: mlc1 has been classified as Red List (Low Evidence).
Macrocephaly_Megalencephaly v0.6 MLC1 Tiong Tan reviewed gene: MLC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11254442, 18757878, 16652334; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts OMIM#604004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.5 MLC1 Tiong Tan gene: MLC1 was added
gene: MLC1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Literature
Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MLC1 were set to 11254442; 18757878; 16652334
Phenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy with subcortical cysts OMIM#604004
Penetrance for gene: MLC1 were set to Complete
Macrocephaly_Megalencephaly v0.4 HERC1 Tiong Tan Marked gene: HERC1 as ready
Macrocephaly_Megalencephaly v0.4 HERC1 Tiong Tan Gene: herc1 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.4 HERC1 Tiong Tan Classified gene: HERC1 as Green List (high evidence)
Macrocephaly_Megalencephaly v0.4 HERC1 Tiong Tan Gene: herc1 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.3 HERC1 Tiong Tan gene: HERC1 was added
gene: HERC1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Literature
Mode of inheritance for gene: HERC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HERC1 were set to 27108999; 26153217; 26138117
Phenotypes for gene: HERC1 were set to MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION OMIM#617011
Penetrance for gene: HERC1 were set to Complete
Review for gene: HERC1 was set to GREEN
Added comment: Sources: Literature
Differences of Sex Development v0.4 PBX1 Zornitza Stark Marked gene: PBX1 as ready
Differences of Sex Development v0.4 PBX1 Zornitza Stark Gene: pbx1 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.4 PBX1 Zornitza Stark Classified gene: PBX1 as Amber List (moderate evidence)
Differences of Sex Development v0.4 PBX1 Zornitza Stark Gene: pbx1 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.3 PBX1 Zornitza Stark gene: PBX1 was added
gene: PBX1 was added to Disorders of Sex Differentiation_VCGS. Sources: Literature
Mode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PBX1 were set to 31302614; 31058389
Phenotypes for gene: PBX1 were set to 46, XY gonadal dysgenesis
Review for gene: PBX1 was set to AMBER
Added comment: Two individuals reported with mono allelic variants in this gene and 46,XY gonadal dysgenesis.
Sources: Literature
Microcephaly v0.47 DNA2 Zornitza Stark Marked gene: DNA2 as ready
Microcephaly v0.47 DNA2 Zornitza Stark Gene: dna2 has been classified as Green List (High Evidence).
Microcephaly v0.47 DNA2 Zornitza Stark Phenotypes for gene: DNA2 were changed from to Seckel syndrome 8, MIM#615807
Microcephaly v0.46 DNA2 Zornitza Stark Publications for gene: DNA2 were set to
Microcephaly v0.45 DNA2 Zornitza Stark Mode of inheritance for gene: DNA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.44 DNA2 Zornitza Stark reviewed gene: DNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24389050, 31045292; Phenotypes: Seckel syndrome 8, MIM#615807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1425 CACNA1G Chris Richmond reviewed gene: CACNA1G: Rating: ; Mode of pathogenicity: Other; Publications: 29878067, 31836334; Phenotypes: Spinocerebellar ataxia 42 [616795], Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [618087], Infantile-Onset Syndromic Cerebellar Ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.1425 SOST Zornitza Stark Marked gene: SOST as ready
Intellectual disability syndromic and non-syndromic v0.1425 SOST Zornitza Stark Gene: sost has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1425 SOST Zornitza Stark Mode of inheritance for gene: SOST was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1424 HNRNPR Zornitza Stark Marked gene: HNRNPR as ready
Intellectual disability syndromic and non-syndromic v0.1424 HNRNPR Zornitza Stark Gene: hnrnpr has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1424 HNRNPR Zornitza Stark Classified gene: HNRNPR as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1424 HNRNPR Zornitza Stark Gene: hnrnpr has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1423 HNRNPR Zornitza Stark gene: HNRNPR was added
gene: HNRNPR was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: HNRNPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPR were set to 31079900
Phenotypes for gene: HNRNPR were set to Intellectual disability; seizures; dysmorphic features
Review for gene: HNRNPR was set to GREEN
Added comment: Four unrelated families with heterozygous variants in this gene and a neurodevelopmental phenotype.
Sources: Literature
Hereditary Haemorrhagic Telangiectasia v0.1 Bryony Thompson Panel status changed from internal to public
Hereditary Haemorrhagic Telangiectasia v0.0 SMAD4 Bryony Thompson gene: SMAD4 was added
gene: SMAD4 was added to Hereditary Haemorrhagic Telangiectasia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
Hereditary Haemorrhagic Telangiectasia v0.0 RASA1 Bryony Thompson gene: RASA1 was added
gene: RASA1 was added to Hereditary Haemorrhagic Telangiectasia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation 608354
Hereditary Haemorrhagic Telangiectasia v0.0 GDF2 Bryony Thompson gene: GDF2 was added
gene: GDF2 was added to Hereditary Haemorrhagic Telangiectasia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GDF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GDF2 were set to Telangiectasia, hereditary hemorrhagic, type 5 615506
Hereditary Haemorrhagic Telangiectasia v0.0 EPHB4 Bryony Thompson gene: EPHB4 was added
gene: EPHB4 was added to Hereditary Haemorrhagic Telangiectasia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation-2
Hereditary Haemorrhagic Telangiectasia v0.0 ENG Bryony Thompson gene: ENG was added
gene: ENG was added to Hereditary Haemorrhagic Telangiectasia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1, 187300; Gastrointestinal telangiectasia (HP:0002604); Palate telangiectasia (HP:0002707); Lip telangiectasia (HP:0000214); Pulmonary arteriovenous malformation (HP:0006548); Nasal mucosa telangiectasia (HP:0000434); Tongue telangiectasia (HP:0000227); Epistaxis (HP:0000421); Cerebral arteriovenous malformation (HP:0002408); Hepatic arteriovenous malformation (HP:0006574; Spinal arteriovenous malformation (HP:0002390); ); Finger pad telangiectasia (pulp not nail side); Arteriovenous malformation (HP:0100026)
Hereditary Haemorrhagic Telangiectasia v0.0 ACVRL1 Bryony Thompson gene: ACVRL1 was added
gene: ACVRL1 was added to Hereditary Haemorrhagic Telangiectasia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACVRL1 were set to telangiectasia; pulmonary arterial hypertension; epistaxis; pulmonary arteriovenous malformation; cerebral pulmonary arteriovenous malformation; hepatic arteriovenous malformation; Telangiectasia, hereditary hemorrhagic, type 2 600376
Hereditary Haemorrhagic Telangiectasia v0.0 Bryony Thompson Added panel Hereditary Haemorrhagic Telangiectasia_RMH
Mendeliome v0.362 PRDM13 Zornitza Stark Marked gene: PRDM13 as ready
Mendeliome v0.362 PRDM13 Zornitza Stark Gene: prdm13 has been classified as Green List (High Evidence).
Mendeliome v0.362 PRDM13 Zornitza Stark Classified gene: PRDM13 as Green List (high evidence)
Mendeliome v0.362 PRDM13 Zornitza Stark Gene: prdm13 has been classified as Green List (High Evidence).
Mendeliome v0.361 PRDM13 Zornitza Stark gene: PRDM13 was added
gene: PRDM13 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PRDM13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRDM13 were set to 30710461
Phenotypes for gene: PRDM13 were set to Retinal dystrophy
Mode of pathogenicity for gene: PRDM13 was set to Other
Review for gene: PRDM13 was set to GREEN
Added comment: 8 individuals from three families reported with UPSTREAM NON-CODING variants in this gene.
Sources: Literature
Mendeliome v0.360 MICB Zornitza Stark Marked gene: MICB as ready
Mendeliome v0.360 MICB Zornitza Stark Added comment: Comment when marking as ready: Agree, cannot find evidence for Mendelian gene-disease association.
Mendeliome v0.360 MICB Zornitza Stark Gene: micb has been classified as Red List (Low Evidence).
Mendeliome v0.360 MICB Zornitza Stark Classified gene: MICB as Red List (low evidence)
Mendeliome v0.360 MICB Zornitza Stark Gene: micb has been classified as Red List (Low Evidence).
Paroxysmal Dyskinesia v0.1 Zornitza Stark Panel status changed from internal to public
Paroxysmal Dyskinesia v0.0 KCNJ2 Zornitza Stark gene: KCNJ2 was added
gene: KCNJ2 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: KCNJ2 was set to Unknown
Paroxysmal Dyskinesia v0.0 CACNA1S Zornitza Stark gene: CACNA1S was added
gene: CACNA1S was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: CACNA1S was set to Unknown
Paroxysmal Dyskinesia v0.0 KCNMA1 Zornitza Stark gene: KCNMA1 was added
gene: KCNMA1 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: KCNMA1 was set to Unknown
Paroxysmal Dyskinesia v0.0 SCN4A Zornitza Stark gene: SCN4A was added
gene: SCN4A was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: SCN4A was set to Unknown
Paroxysmal Dyskinesia v0.0 SPR Zornitza Stark gene: SPR was added
gene: SPR was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: SPR was set to Unknown
Paroxysmal Dyskinesia v0.0 SLC6A5 Zornitza Stark gene: SLC6A5 was added
gene: SLC6A5 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: SLC6A5 was set to Unknown
Paroxysmal Dyskinesia v0.0 SLC2A1 Zornitza Stark gene: SLC2A1 was added
gene: SLC2A1 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: SLC2A1 was set to Unknown
Paroxysmal Dyskinesia v0.0 SLC1A3 Zornitza Stark gene: SLC1A3 was added
gene: SLC1A3 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: SLC1A3 was set to Unknown
Paroxysmal Dyskinesia v0.0 SCN8A Zornitza Stark gene: SCN8A was added
gene: SCN8A was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: SCN8A was set to Unknown
Paroxysmal Dyskinesia v0.0 SCN2A Zornitza Stark gene: SCN2A was added
gene: SCN2A was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: SCN2A was set to Unknown
Paroxysmal Dyskinesia v0.0 SCN1A Zornitza Stark gene: SCN1A was added
gene: SCN1A was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: SCN1A was set to Unknown
Paroxysmal Dyskinesia v0.0 PRRT2 Zornitza Stark gene: PRRT2 was added
gene: PRRT2 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: PRRT2 was set to Unknown
Paroxysmal Dyskinesia v0.0 PNKD Zornitza Stark gene: PNKD was added
gene: PNKD was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: PNKD was set to Unknown
Paroxysmal Dyskinesia v0.0 KCNQ3 Zornitza Stark gene: KCNQ3 was added
gene: KCNQ3 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: KCNQ3 was set to Unknown
Paroxysmal Dyskinesia v0.0 KCNQ2 Zornitza Stark gene: KCNQ2 was added
gene: KCNQ2 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: KCNQ2 was set to Unknown
Paroxysmal Dyskinesia v0.0 KCNA2 Zornitza Stark gene: KCNA2 was added
gene: KCNA2 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: KCNA2 was set to Unknown
Paroxysmal Dyskinesia v0.0 KCNA1 Zornitza Stark gene: KCNA1 was added
gene: KCNA1 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: KCNA1 was set to Unknown
Paroxysmal Dyskinesia v0.0 GLRB Zornitza Stark gene: GLRB was added
gene: GLRB was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: GLRB was set to Unknown
Paroxysmal Dyskinesia v0.0 GLRA1 Zornitza Stark gene: GLRA1 was added
gene: GLRA1 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: GLRA1 was set to Unknown
Paroxysmal Dyskinesia v0.0 GNAO1 Zornitza Stark gene: GNAO1 was added
gene: GNAO1 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: GNAO1 was set to Unknown
Paroxysmal Dyskinesia v0.0 CACNB4 Zornitza Stark gene: CACNB4 was added
gene: CACNB4 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: CACNB4 was set to Unknown
Paroxysmal Dyskinesia v0.0 CACNA1A Zornitza Stark gene: CACNA1A was added
gene: CACNA1A was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: CACNA1A was set to Unknown
Paroxysmal Dyskinesia v0.0 ATP7B Zornitza Stark gene: ATP7B was added
gene: ATP7B was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: ATP7B was set to Unknown
Paroxysmal Dyskinesia v0.0 ATP1A3 Zornitza Stark gene: ATP1A3 was added
gene: ATP1A3 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: ATP1A3 was set to Unknown
Paroxysmal Dyskinesia v0.0 ATP1A2 Zornitza Stark gene: ATP1A2 was added
gene: ATP1A2 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: ATP1A2 was set to Unknown
Paroxysmal Dyskinesia v0.0 ADCY5 Zornitza Stark gene: ADCY5 was added
gene: ADCY5 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: ADCY5 was set to Unknown
Paroxysmal Dyskinesia v0.0 Zornitza Stark Added panel Paroxysmal dyskinesia_VCGS
Autism v0.15 DSCAM Natasha Brown Marked gene: DSCAM as ready
Autism v0.15 DSCAM Natasha Brown Gene: dscam has been classified as Green List (High Evidence).
Autism v0.15 DSCAM Natasha Brown Phenotypes for gene: DSCAM were changed from to Autism
Autism v0.14 DSCAM Natasha Brown Publications for gene: DSCAM were set to
Autism v0.13 DSCAM Natasha Brown Mode of inheritance for gene: DSCAM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.12 DSCAM Natasha Brown reviewed gene: DSCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27824329, 28191889, 21904980; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1422 DSCAM Natasha Brown Marked gene: DSCAM as ready
Intellectual disability syndromic and non-syndromic v0.1422 DSCAM Natasha Brown Added comment: Comment when marking as ready: Large cohort studies mean that individual phenotype data currently lacking in particular in relation to ID
Intellectual disability syndromic and non-syndromic v0.1422 DSCAM Natasha Brown Gene: dscam has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1422 DSCAM Natasha Brown Phenotypes for gene: DSCAM were changed from to Autism; ID
Intellectual disability syndromic and non-syndromic v0.1421 DSCAM Natasha Brown Publications for gene: DSCAM were set to
Intellectual disability syndromic and non-syndromic v0.1420 DSCAM Natasha Brown Mode of inheritance for gene: DSCAM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1419 DSCAM Natasha Brown Classified gene: DSCAM as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1419 DSCAM Natasha Brown Gene: dscam has been classified as Amber List (Moderate Evidence).
Mendeliome v0.359 MICB Sebastian Lunke changed review comment from: This gene is included in a large number of publications as it plays an central role immunity (MAJOR HISTOCOMPATIBILITY COMPLEX CLASS I CHAIN-RELATED GENE B). However beyond a number of susceptibility associations, it does not appear to have been firmly associated with disease in patients.; to: This gene is included in a large number of publications as it plays an central role immunity (MAJOR HISTOCOMPATIBILITY COMPLEX CLASS I CHAIN-RELATED GENE B). However beyond a number of susceptibility associations, it does not appear to have been firmly associated with disease in patients.

https://ghr.nlm.nih.gov/gene/MICB#resources
Mendeliome v0.359 MICB Sebastian Lunke reviewed gene: MICB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Intellectual disability syndromic and non-syndromic v0.1418 DSCAM Natasha Brown reviewed gene: DSCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27824329, 28191889, 21904980; Phenotypes: Autism, ID; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.2 PISD Zornitza Stark Marked gene: PISD as ready
Skeletal dysplasia v0.2 PISD Zornitza Stark Gene: pisd has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.2 PISD Zornitza Stark Classified gene: PISD as Amber List (moderate evidence)
Skeletal dysplasia v0.2 PISD Zornitza Stark Gene: pisd has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.1 PISD Zornitza Stark gene: PISD was added
gene: PISD was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: PISD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PISD were set to 30488656; 31263216; 30858161
Phenotypes for gene: PISD were set to Spondylometaphyseal dysplasia with large epiphyses
Review for gene: PISD was set to AMBER
Added comment: Two unrelated probands from non-consanguineous families identified as having the same homozygous variant; some functional data. Note there was some regions of homozygosity identified, indicative of distant relatedness and therefore founder effect.
Three other families reported with bi-allelic variants in this gene in 2019 and a multi-system disorder including short stature, but skeletal findings not as well characterised as in this paper.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1418 PPP1R12A Zornitza Stark Marked gene: PPP1R12A as ready
Intellectual disability syndromic and non-syndromic v0.1418 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1418 PPP1R12A Zornitza Stark Classified gene: PPP1R12A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1418 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1417 PPP1R12A Zornitza Stark gene: PPP1R12A was added
gene: PPP1R12A was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Research
Mode of inheritance for gene: PPP1R12A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PPP1R12A were set to Intellectual disability; holoprosencephaly; disorder of sex development
Added comment: Emerging evidence.
Sources: Research
Mendeliome v0.359 PPP1R12A Zornitza Stark reviewed gene: PPP1R12A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, holoprosencephaly, disorder of sex development; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.3 PPP1R12A Zornitza Stark Marked gene: PPP1R12A as ready
Holoprosencephaly and septo-optic dysplasia v0.3 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).
Holoprosencephaly and septo-optic dysplasia v0.3 PPP1R12A Zornitza Stark Phenotypes for gene: PPP1R12A were changed from to Intellectual disability; holoprosencephaly; disorder of sex development
Holoprosencephaly and septo-optic dysplasia v0.2 PPP1R12A Zornitza Stark Mode of inheritance for gene: PPP1R12A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.1 PPP1R12A Zornitza Stark Classified gene: PPP1R12A as Amber List (moderate evidence)
Holoprosencephaly and septo-optic dysplasia v0.1 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).
Holoprosencephaly and septo-optic dysplasia v0.0 PPP1R12A Zornitza Stark reviewed gene: PPP1R12A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, holoprosencephaly, disorder of sex development; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v0.2 PPP1R12A Zornitza Stark Marked gene: PPP1R12A as ready
Differences of Sex Development v0.2 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.2 PPP1R12A Zornitza Stark Phenotypes for gene: PPP1R12A were changed from to Intellectual disability; holoprosencephaly; disorder of sex development
Differences of Sex Development v0.1 PPP1R12A Zornitza Stark Mode of inheritance for gene: PPP1R12A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v0.1 PPP1R12A Zornitza Stark Classified gene: PPP1R12A as Amber List (moderate evidence)
Differences of Sex Development v0.1 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.0 PPP1R12A Zornitza Stark reviewed gene: PPP1R12A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, holoprosencephaly, disorder of sex development; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1416 ANKRD17 Zornitza Stark Marked gene: ANKRD17 as ready
Intellectual disability syndromic and non-syndromic v0.1416 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1416 ANKRD17 Zornitza Stark Classified gene: ANKRD17 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1416 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1415 ANKRD17 Zornitza Stark gene: ANKRD17 was added
gene: ANKRD17 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Research
Mode of inheritance for gene: ANKRD17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKRD17 were set to Intellectual disability; dysmorphic features
Review for gene: ANKRD17 was set to AMBER
Added comment: Emerging evidence.
Sources: Research
Genetic Epilepsy v0.44 ANKRD17 Zornitza Stark Marked gene: ANKRD17 as ready
Genetic Epilepsy v0.44 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.44 ANKRD17 Zornitza Stark Phenotypes for gene: ANKRD17 were changed from to Intellectual disability; dysmorphic features
Genetic Epilepsy v0.43 ANKRD17 Zornitza Stark Mode of inheritance for gene: ANKRD17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.42 ANKRD17 Zornitza Stark Classified gene: ANKRD17 as Amber List (moderate evidence)
Genetic Epilepsy v0.42 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.41 ANKRD17 Zornitza Stark reviewed gene: ANKRD17: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, dysmorphic features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.359 ANKRD17 Zornitza Stark Marked gene: ANKRD17 as ready
Mendeliome v0.359 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.359 ANKRD17 Zornitza Stark Phenotypes for gene: ANKRD17 were changed from to Intellectual disability; dysmorphic features
Mendeliome v0.358 ANKRD17 Zornitza Stark Classified gene: ANKRD17 as Amber List (moderate evidence)
Mendeliome v0.358 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.357 ANKRD17 Zornitza Stark reviewed gene: ANKRD17: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, dysmorphic features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1414 ZFHX3 Zornitza Stark Marked gene: ZFHX3 as ready
Intellectual disability syndromic and non-syndromic v0.1414 ZFHX3 Zornitza Stark Added comment: Comment when marking as ready: Emerging evidence.
Intellectual disability syndromic and non-syndromic v0.1414 ZFHX3 Zornitza Stark Gene: zfhx3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1414 ZFHX3 Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.1414 ZFHX3 Zornitza Stark changed review comment from: Personal communication: Over 20 individuals with mostly de novo variants in this gene and mild ID/DD
Sources: Research; to: Emerging evidence.
Sources: Research
Intellectual disability syndromic and non-syndromic v0.1414 ZFHX3 Zornitza Stark Classified gene: ZFHX3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1414 ZFHX3 Zornitza Stark Gene: zfhx3 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.0 ISCA-37501-Loss Zornitza Stark Region: ISCA-37501-Loss was added
Region: ISCA-37501-Loss was added to Skeletal dysplasia. Sources: Expert list,Expert Review Green
Mode of inheritance for Region: ISCA-37501-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37501-Loss were set to 20206336; 22052739
Phenotypes for Region: ISCA-37501-Loss were set to Chromosome 17q23.1-q23.2 deletion syndrome, 613355; PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities; PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss
Skeletal dysplasia v0.0 ISCA-37441-Loss Zornitza Stark Region: ISCA-37441-Loss was added
Region: ISCA-37441-Loss was added to Skeletal dysplasia. Sources: NHS GMS,ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37441-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37441-Loss were set to 15852040; 20140962; 16319823
Phenotypes for Region: ISCA-37441-Loss were set to parietal foramina; mental retardation; intellectual disability; ophthalmologic anomalies; Potocki-Shaffer syndrome; myopia; biparietal foramina; enlarged anterior fontanel; minor craniofacial anomalies; genital abnormalities in males; developmental delay; multiple exostoses; strabismus; 601224
Skeletal dysplasia v0.0 ISCA-37434-Loss Zornitza Stark Region: ISCA-37434-Loss was added
Region: ISCA-37434-Loss was added to Skeletal dysplasia. Sources: NHS GMS,ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37434-Loss were set to 18245432; 17918734; 22766398
Phenotypes for Region: ISCA-37434-Loss were set to microcephaly; 1p36 deletion syndrome; large anterior fontanels; large, late-closing anterior fontanel; deep-set eyes; central nervous system anomalies; pointed chin; heart defects; poor/absent speech; hypotonia; brachycephaly; hearing impairment; 607872; growth impairment; flat nose; nasal bridge; mental retardation; seizures; epicanthus; microbrachycephaly; posteriorly rotated, low-set, abnormal ears; developmental delay; distinct dysmorphic features
Skeletal dysplasia v0.0 ISCA-37418-Loss Zornitza Stark Region: ISCA-37418-Loss was added
Region: ISCA-37418-Loss was added to Skeletal dysplasia. Sources: NHS GMS,ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37418-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37418-Loss were set to Potocki-Lupski syndrome; Smith-Magenis syndrome; moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems; 182290; Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance; hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies; Dental abnormalities; hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders
Skeletal dysplasia v0.0 ISCA-37406-Loss Zornitza Stark Region: ISCA-37406-Loss was added
Region: ISCA-37406-Loss was added to Skeletal dysplasia. Sources: NHS GMS,ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37406-Loss were set to 16783566; 10573006
Phenotypes for Region: ISCA-37406-Loss were set to PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes; 610543
Skeletal dysplasia v0.0 ISCA-37394-Loss Zornitza Stark Region: ISCA-37394-Loss was added
Region: ISCA-37394-Loss was added to Skeletal dysplasia. Sources: NHS GMS,ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37394-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37394-Loss were set to 25402011; 23188045
Phenotypes for Region: ISCA-37394-Loss were set to 2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. PMID 23188045 brachydactyly-mental retardation syndrome, Albright hereditary osteodystrophy-like syndrome, developmental delay and behavioural abnormalities in combination; 600430
Skeletal dysplasia v0.0 ZNF423 Zornitza Stark gene: ZNF423 was added
gene: ZNF423 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: ZNF423 was set to
Skeletal dysplasia v0.0 ZIC3 Zornitza Stark gene: ZIC3 was added
gene: ZIC3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: ZIC3 was set to
Skeletal dysplasia v0.0 ZBTB16 Zornitza Stark gene: ZBTB16 was added
gene: ZBTB16 was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: ZBTB16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZBTB16 were set to Skeletal defects, genital hypoplasia, and mental retardation 612447
Skeletal dysplasia v0.0 XPNPEP3 Zornitza Stark gene: XPNPEP3 was added
gene: XPNPEP3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: XPNPEP3 was set to
Skeletal dysplasia v0.0 WRN Zornitza Stark gene: WRN was added
gene: WRN was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRN were set to Werner syndrome -277700
Skeletal dysplasia v0.0 WNT3 Zornitza Stark gene: WNT3 was added
gene: WNT3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT3 were set to 14872406
Phenotypes for gene: WNT3 were set to Tetra-amelia syndrome 273395
Skeletal dysplasia v0.0 WHRN Zornitza Stark gene: WHRN was added
gene: WHRN was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: WHRN was set to
Skeletal dysplasia v0.0 VHL Zornitza Stark gene: VHL was added
gene: VHL was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: VHL was set to
Skeletal dysplasia v0.0 VAC14 Zornitza Stark gene: VAC14 was added
gene: VAC14 was added to Skeletal dysplasia. Sources: Other
Mode of inheritance for gene: VAC14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VAC14 were set to 28635952
Phenotypes for gene: VAC14 were set to Yunis-Varon syndrome (YVS) (includes multiple skeletal anomalies)
Skeletal dysplasia v0.0 USP9X Zornitza Stark gene: USP9X was added
gene: USP9X was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: USP9X was set to
Phenotypes for gene: USP9X were set to New syndrom with skd
Skeletal dysplasia v0.0 USH2A Zornitza Stark gene: USH2A was added
gene: USH2A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: USH2A was set to
Skeletal dysplasia v0.0 USH1G Zornitza Stark gene: USH1G was added
gene: USH1G was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: USH1G was set to
Skeletal dysplasia v0.0 USH1C Zornitza Stark gene: USH1C was added
gene: USH1C was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: USH1C was set to
Skeletal dysplasia v0.0 UMOD Zornitza Stark gene: UMOD was added
gene: UMOD was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: UMOD was set to
Skeletal dysplasia v0.0 UFSP2 Zornitza Stark gene: UFSP2 was added
gene: UFSP2 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: UFSP2 was set to
Publications for gene: UFSP2 were set to 28892125; 26428751
Phenotypes for gene: UFSP2 were set to Beukes Hip Dysplasia 142669, Spondyloepimetaphyseal dysplasia, Di Rocco type 617974
Skeletal dysplasia v0.0 TULP1 Zornitza Stark gene: TULP1 was added
gene: TULP1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: TULP1 was set to
Skeletal dysplasia v0.0 TSC2 Zornitza Stark gene: TSC2 was added
gene: TSC2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: TSC2 was set to
Skeletal dysplasia v0.0 TSC1 Zornitza Stark gene: TSC1 was added
gene: TSC1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: TSC1 was set to
Skeletal dysplasia v0.0 TRMT10A Zornitza Stark gene: TRMT10A was added
gene: TRMT10A was added to Skeletal dysplasia. Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: TRMT10A was set to
Phenotypes for gene: TRMT10A were set to Microcephaly, short stature and impaired glucose metabolism, 616033
Skeletal dysplasia v0.0 TRIM32 Zornitza Stark gene: TRIM32 was added
gene: TRIM32 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Red
Mode of inheritance for gene: TRIM32 was set to
Phenotypes for gene: TRIM32 were set to Polydactyly; Bardet-Biedl syndrome 11, 615988
Skeletal dysplasia v0.0 TOPORS Zornitza Stark gene: TOPORS was added
gene: TOPORS was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: TOPORS was set to
Skeletal dysplasia v0.0 TNXB Zornitza Stark gene: TNXB was added
gene: TNXB was added to Skeletal dysplasia. Sources: Expert
Mode of inheritance for gene: TNXB was set to
Skeletal dysplasia v0.0 TMEM67 Zornitza Stark gene: TMEM67 was added
gene: TMEM67 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM67 were set to COACH syndrome 216360; Meckel syndrome 3 607361; {Bardet-Biedl syndrome 14, modifier of} 615991; Joubert syndrome 6 610688
Skeletal dysplasia v0.0 TMEM237 Zornitza Stark gene: TMEM237 was added
gene: TMEM237 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: TMEM237 was set to
Skeletal dysplasia v0.0 TMEM138 Zornitza Stark gene: TMEM138 was added
gene: TMEM138 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: TMEM138 was set to
Skeletal dysplasia v0.0 THPO Zornitza Stark gene: THPO was added
gene: THPO was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: THPO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THPO were set to 22453305; 19553636
Phenotypes for gene: THPO were set to Thrombocythemia 1 187950 (rare presentation with congenital limb defects)
Mode of pathogenicity for gene: THPO was set to Other - please provide details in the comments
Skeletal dysplasia v0.0 TGDS Zornitza Stark gene: TGDS was added
gene: TGDS was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: TGDS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TGDS were set to 25480037
Phenotypes for gene: TGDS were set to Catel-Manzke syndrome 616145
Skeletal dysplasia v0.0 TDP2 Zornitza Stark gene: TDP2 was added
gene: TDP2 was added to Skeletal dysplasia. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: TDP2 was set to
Phenotypes for gene: TDP2 were set to Dentinogenesis imperfecta, Shields type II, 125490
Skeletal dysplasia v0.0 TCTN1 Zornitza Stark gene: TCTN1 was added
gene: TCTN1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: TCTN1 was set to
Skeletal dysplasia v0.0 SPECC1L Zornitza Stark gene: SPECC1L was added
gene: SPECC1L was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: SPECC1L was set to Other
Publications for gene: SPECC1L were set to 26111080
Phenotypes for gene: SPECC1L were set to Facial clefting, oblique, 1 600251; Opitz GBBB syndrome, type II 145410; Teebi hyperterorism like syndrome 145420
Skeletal dysplasia v0.0 SPATA7 Zornitza Stark gene: SPATA7 was added
gene: SPATA7 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: SPATA7 was set to
Skeletal dysplasia v0.0 SOX11 Zornitza Stark gene: SOX11 was added
gene: SOX11 was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: SOX11 was set to
Phenotypes for gene: SOX11 were set to Coffin-Siris syndrome
Skeletal dysplasia v0.0 SMARCE1 Zornitza Stark gene: SMARCE1 was added
gene: SMARCE1 was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: SMARCE1 was set to
Phenotypes for gene: SMARCE1 were set to Coffin-Siris syndrome
Skeletal dysplasia v0.0 SMARCB1 Zornitza Stark gene: SMARCB1 was added
gene: SMARCB1 was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: SMARCB1 was set to
Phenotypes for gene: SMARCB1 were set to Coffin Siris syndrome
Skeletal dysplasia v0.0 SMARCA4 Zornitza Stark gene: SMARCA4 was added
gene: SMARCA4 was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: SMARCA4 was set to
Phenotypes for gene: SMARCA4 were set to Coffin Siris syndrome
Skeletal dysplasia v0.0 SMARCA2 Zornitza Stark gene: SMARCA2 was added
gene: SMARCA2 was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: SMARCA2 was set to
Phenotypes for gene: SMARCA2 were set to Coffin Siris syndrome
Skeletal dysplasia v0.0 SLCO5A1 Zornitza Stark gene: SLCO5A1 was added
gene: SLCO5A1 was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS,Expert list
Mode of inheritance for gene: SLCO5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLCO5A1 were set to 20602915
Phenotypes for gene: SLCO5A1 were set to Mesomelia-synostoses syndrome 600383; Mesomelia-synostoses syndrome 600383
Skeletal dysplasia v0.0 SHH Zornitza Stark gene: SHH was added
gene: SHH was added to Skeletal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SHH were set to 25782671
Phenotypes for gene: SHH were set to Preaxial polydactyly type 1 (PPD1)
Skeletal dysplasia v0.0 SEM1 Zornitza Stark gene: SEM1 was added
gene: SEM1 was added to Skeletal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: SEM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SEM1 were set to SHFM1
Skeletal dysplasia v0.0 SDCCAG8 Zornitza Stark gene: SDCCAG8 was added
gene: SDCCAG8 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Red
Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDCCAG8 were set to Bardet-Biedl syndrome 16, 615993
Skeletal dysplasia v0.0 SCNN1G Zornitza Stark gene: SCNN1G was added
gene: SCNN1G was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: SCNN1G was set to
Skeletal dysplasia v0.0 SCNN1B Zornitza Stark gene: SCNN1B was added
gene: SCNN1B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: SCNN1B was set to
Skeletal dysplasia v0.0 SCNN1A Zornitza Stark gene: SCNN1A was added
gene: SCNN1A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: SCNN1A was set to
Skeletal dysplasia v0.0 RSPH9 Zornitza Stark gene: RSPH9 was added
gene: RSPH9 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: RSPH9 was set to
Skeletal dysplasia v0.0 RSPH4A Zornitza Stark gene: RSPH4A was added
gene: RSPH4A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: RSPH4A was set to
Skeletal dysplasia v0.0 RPGRIP1 Zornitza Stark gene: RPGRIP1 was added
gene: RPGRIP1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: RPGRIP1 was set to
Skeletal dysplasia v0.0 RPGR Zornitza Stark gene: RPGR was added
gene: RPGR was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: RPGR was set to
Skeletal dysplasia v0.0 RPE65 Zornitza Stark gene: RPE65 was added
gene: RPE65 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: RPE65 was set to
Skeletal dysplasia v0.0 RIPPLY2 Zornitza Stark gene: RIPPLY2 was added
gene: RIPPLY2 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: RIPPLY2 was set to
Publications for gene: RIPPLY2 were set to 25343988; 26238661
Phenotypes for gene: RIPPLY2 were set to Spondylocostal dysostosis 6 - 616566
Skeletal dysplasia v0.0 RDH12 Zornitza Stark gene: RDH12 was added
gene: RDH12 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: RDH12 was set to
Skeletal dysplasia v0.0 RD3 Zornitza Stark gene: RD3 was added
gene: RD3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: RD3 was set to
Skeletal dysplasia v0.0 RAB3GAP2 Zornitza Stark gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: RAB3GAP2 was set to
Phenotypes for gene: RAB3GAP2 were set to Martsolf syndrome
Skeletal dysplasia v0.0 PTPRQ Zornitza Stark gene: PTPRQ was added
gene: PTPRQ was added to Skeletal dysplasia. Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: PTPRQ was set to
Phenotypes for gene: PTPRQ were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813
Skeletal dysplasia v0.0 PLOD1 Zornitza Stark gene: PLOD1 was added
gene: PLOD1 was added to Skeletal dysplasia. Sources: Expert
Mode of inheritance for gene: PLOD1 was set to
Skeletal dysplasia v0.0 PLK4 Zornitza Stark gene: PLK4 was added
gene: PLK4 was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: PLK4 was set to
Phenotypes for gene: PLK4 were set to Microcephalic primordial dwarfism
Skeletal dysplasia v0.0 PLEKHM1 Zornitza Stark gene: PLEKHM1 was added
gene: PLEKHM1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red
Mode of inheritance for gene: PLEKHM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PLEKHM1 were set to 17997709; 17404618; 27291868
Phenotypes for gene: PLEKHM1 were set to Osteopetrosis, autosomal recessive 6 - 611497; Osteopetrosis, autosomal recessive 6 611497; Osteopetrosis, autosomal dominant 3 - 618107
Skeletal dysplasia v0.0 PKHD1 Zornitza Stark gene: PKHD1 was added
gene: PKHD1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: PKHD1 was set to
Skeletal dysplasia v0.0 PKD2 Zornitza Stark gene: PKD2 was added
gene: PKD2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: PKD2 was set to
Skeletal dysplasia v0.0 PIR Zornitza Stark gene: PIR was added
gene: PIR was added to Skeletal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: PIR was set to Unknown
Publications for gene: PIR were set to 16183656; 19766747
Phenotypes for gene: PIR were set to Osteoporosis
Skeletal dysplasia v0.0 PIN1 Zornitza Stark gene: PIN1 was added
gene: PIN1 was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: PIN1 was set to Unknown
Publications for gene: PIN1 were set to 24569166
Phenotypes for gene: PIN1 were set to No phenotype associated with this gene
Skeletal dysplasia v0.0 PIK3CA Zornitza Stark gene: PIK3CA was added
gene: PIK3CA was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: PIK3CA was set to
Phenotypes for gene: PIK3CA were set to CLOVES 612918
Skeletal dysplasia v0.0 PHF6 Zornitza Stark gene: PHF6 was added
gene: PHF6 was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: PHF6 was set to
Phenotypes for gene: PHF6 were set to Coffin-Siris syndrome
Skeletal dysplasia v0.0 PCDH15 Zornitza Stark gene: PCDH15 was added
gene: PCDH15 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: PCDH15 was set to
Skeletal dysplasia v0.0 OAT Zornitza Stark gene: OAT was added
gene: OAT was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: OAT was set to
Phenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia 258870
Skeletal dysplasia v0.0 NPPC Zornitza Stark gene: NPPC was added
gene: NPPC was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: NPPC was set to Unknown
Publications for gene: NPPC were set to 11259675
Phenotypes for gene: NPPC were set to Overgrowth syndrome with 2q37 translocations
Skeletal dysplasia v0.0 NPHP4 Zornitza Stark gene: NPHP4 was added
gene: NPHP4 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: NPHP4 was set to
Skeletal dysplasia v0.0 NPHP3 Zornitza Stark gene: NPHP3 was added
gene: NPHP3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP3 were set to Meckel syndrome 7 267010
Skeletal dysplasia v0.0 NPHP1 Zornitza Stark gene: NPHP1 was added
gene: NPHP1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: NPHP1 was set to
Skeletal dysplasia v0.0 NODAL Zornitza Stark gene: NODAL was added
gene: NODAL was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: NODAL was set to
Skeletal dysplasia v0.0 NME8 Zornitza Stark gene: NME8 was added
gene: NME8 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: NME8 was set to
Skeletal dysplasia v0.0 NKX2-5 Zornitza Stark gene: NKX2-5 was added
gene: NKX2-5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: NKX2-5 was set to
Skeletal dysplasia v0.0 NIN Zornitza Stark gene: NIN was added
gene: NIN was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: NIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NIN were set to 23665482; 22933543
Phenotypes for gene: NIN were set to Seckel syndrome 7 614851
Skeletal dysplasia v0.0 NEK8 Zornitza Stark gene: NEK8 was added
gene: NEK8 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: NEK8 was set to
Skeletal dysplasia v0.0 MYO7A Zornitza Stark gene: MYO7A was added
gene: MYO7A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: MYO7A was set to
Skeletal dysplasia v0.0 MTAP Zornitza Stark gene: MTAP was added
gene: MTAP was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: MTAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MTAP were set to Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250
Skeletal dysplasia v0.0 MMP14 Zornitza Stark gene: MMP14 was added
gene: MMP14 was added to Skeletal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: MMP14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMP14 were set to 22922033
Phenotypes for gene: MMP14 were set to Winchester syndrome 277950
Skeletal dysplasia v0.0 MCM5 Zornitza Stark gene: MCM5 was added
gene: MCM5 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: MCM5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM5 were set to 28198391
Phenotypes for gene: MCM5 were set to ?Meier-Gorlin syndrome 8 617564
Skeletal dysplasia v0.0 MAN2C1 Zornitza Stark gene: MAN2C1 was added
gene: MAN2C1 was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: MAN2C1 was set to Unknown
Publications for gene: MAN2C1 were set to 6220608
Phenotypes for gene: MAN2C1 were set to alpha-Mannosidosis
Skeletal dysplasia v0.0 LTBP2 Zornitza Stark gene: LTBP2 was added
gene: LTBP2 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: LTBP2 was set to
Publications for gene: LTBP2 were set to 22539340
Phenotypes for gene: LTBP2 were set to Weill-Marchesani
Skeletal dysplasia v0.0 LRP6 Zornitza Stark gene: LRP6 was added
gene: LRP6 was added to Skeletal dysplasia. Sources: Expert
Mode of inheritance for gene: LRP6 was set to
Skeletal dysplasia v0.0 LRAT Zornitza Stark gene: LRAT was added
gene: LRAT was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: LRAT was set to
Skeletal dysplasia v0.0 LOXL3 Zornitza Stark gene: LOXL3 was added
gene: LOXL3 was added to Skeletal dysplasia. Sources: Expert Review Red,Expert Review
Mode of inheritance for gene: LOXL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LOXL3 were set to 25663169
Phenotypes for gene: LOXL3 were set to Stickler syndrome
Skeletal dysplasia v0.0 LFNG Zornitza Stark gene: LFNG was added
gene: LFNG was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red
Mode of inheritance for gene: LFNG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LFNG were set to 30196550; 16385447
Phenotypes for gene: LFNG were set to Spondylocostal dysostosis 3, autosomal recessive 609813
Skeletal dysplasia v0.0 LEFTY2 Zornitza Stark gene: LEFTY2 was added
gene: LEFTY2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: LEFTY2 was set to
Skeletal dysplasia v0.0 LCA5 Zornitza Stark gene: LCA5 was added
gene: LCA5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: LCA5 was set to
Skeletal dysplasia v0.0 KCNJ13 Zornitza Stark gene: KCNJ13 was added
gene: KCNJ13 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: KCNJ13 was set to
Skeletal dysplasia v0.0 IQCB1 Zornitza Stark gene: IQCB1 was added
gene: IQCB1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: IQCB1 was set to
Skeletal dysplasia v0.0 INVS Zornitza Stark gene: INVS was added
gene: INVS was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: INVS was set to
Skeletal dysplasia v0.0 IMPDH1 Zornitza Stark gene: IMPDH1 was added
gene: IMPDH1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: IMPDH1 was set to
Skeletal dysplasia v0.0 IFT88 Zornitza Stark gene: IFT88 was added
gene: IFT88 was added to Skeletal dysplasia. Sources: UKGTN,Expert Review Red,Expert list
Mode of inheritance for gene: IFT88 was set to Unknown
Publications for gene: IFT88 were set to 23034798
Skeletal dysplasia v0.0 IDH2 Zornitza Stark gene: IDH2 was added
gene: IDH2 was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: IDH2 was set to Unknown
Publications for gene: IDH2 were set to 22057234; 22057236; 24049096
Phenotypes for gene: IDH2 were set to D-2-hydroxyglutaric aciduria 2 613657; Ollier disease/ Dyschondroplasia 166000; Maffucci syndrome 614569; Enchondromatosis (Ollier) and Enchondromatosis with hermangiomata (Maffucci) 166000, metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (614875)
Skeletal dysplasia v0.0 HYLS1 Zornitza Stark gene: HYLS1 was added
gene: HYLS1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: HYLS1 was set to
Skeletal dysplasia v0.0 HOXD11 Zornitza Stark gene: HOXD11 was added
gene: HOXD11 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: HOXD11 was set to
Publications for gene: HOXD11 were set to Fleischman 2013 Blood 122:4837 https://protect-au.mimecast.com/s/EaaSC2xMxLhpLoOwh9oxHM?domain=bloodjournal.org (not in PubMed)
Skeletal dysplasia v0.0 HOXA11 Zornitza Stark gene: HOXA11 was added
gene: HOXA11 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red
Mode of inheritance for gene: HOXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HOXA11 were set to 11101832
Phenotypes for gene: HOXA11 were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432
Skeletal dysplasia v0.0 HDAC5 Zornitza Stark gene: HDAC5 was added
gene: HDAC5 was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: HDAC5 was set to Unknown
Publications for gene: HDAC5 were set to 26723575
Phenotypes for gene: HDAC5 were set to osteoporosis
Skeletal dysplasia v0.0 GUCY2D Zornitza Stark gene: GUCY2D was added
gene: GUCY2D was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: GUCY2D was set to
Skeletal dysplasia v0.0 GREM1 Zornitza Stark gene: GREM1 was added
gene: GREM1 was added to Skeletal dysplasia. Sources: UKGTN,Emory Genetics Laboratory,Expert list,Expert Review Red
Mode of inheritance for gene: GREM1 was set to Unknown
Publications for gene: GREM1 were set to 22561515; 19229034
Skeletal dysplasia v0.0 GLIS2 Zornitza Stark gene: GLIS2 was added
gene: GLIS2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: GLIS2 was set to
Skeletal dysplasia v0.0 GDF3 Zornitza Stark gene: GDF3 was added
gene: GDF3 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: GDF3 was set to
Publications for gene: GDF3 were set to 19864492
Phenotypes for gene: GDF3 were set to Klippel-Feil anomaly with laryngeal malformation - 613702
Skeletal dysplasia v0.0 GDF1 Zornitza Stark gene: GDF1 was added
gene: GDF1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: GDF1 was set to
Skeletal dysplasia v0.0 FOXH1 Zornitza Stark gene: FOXH1 was added
gene: FOXH1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: FOXH1 was set to
Skeletal dysplasia v0.0 FOXC1 Zornitza Stark gene: FOXC1 was added
gene: FOXC1 was added to Skeletal dysplasia. Sources: UKGTN,Expert Review Red,Expert list,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXC1 were set to 27193493
Skeletal dysplasia v0.0 FMN1 Zornitza Stark gene: FMN1 was added
gene: FMN1 was added to Skeletal dysplasia. Sources: UKGTN,Emory Genetics Laboratory,Expert list,Expert Review Red
Mode of inheritance for gene: FMN1 was set to Unknown
Phenotypes for gene: FMN1 were set to Animal models with skeletal dysplastic phenotypes
Skeletal dysplasia v0.0 FGF9 Zornitza Stark gene: FGF9 was added
gene: FGF9 was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: FGF9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGF9 were set to 19589401
Phenotypes for gene: FGF9 were set to ?Multiple synostoses syndrome type 3 612961
Skeletal dysplasia v0.0 FGF8 Zornitza Stark gene: FGF8 was added
gene: FGF8 was added to Skeletal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: FGF8 was set to Unknown
Publications for gene: FGF8 were set to 24569166
Phenotypes for gene: FGF8 were set to Numerous variants reported in Hypogonadotropic hypogonadism 6 with or without anosmia 612702, but this phenotype is not relevant to this panel.
Skeletal dysplasia v0.0 FBXW4 Zornitza Stark gene: FBXW4 was added
gene: FBXW4 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FBXW4 was set to Unknown
Publications for gene: FBXW4 were set to 19584065; 18067070
Phenotypes for gene: FBXW4 were set to Split-hand/foot malformation 3 syndrome 246560
Mode of pathogenicity for gene: FBXW4 was set to Other - please provide details in the comments
Skeletal dysplasia v0.0 FBLIM1 Zornitza Stark gene: FBLIM1 was added
gene: FBLIM1 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: FBLIM1 was set to
Publications for gene: FBLIM1 were set to 29912021
Phenotypes for gene: FBLIM1 were set to Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628
Skeletal dysplasia v0.0 ETF1 Zornitza Stark gene: ETF1 was added
gene: ETF1 was added to Skeletal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: ETF1 was set to Unknown
Publications for gene: ETF1 were set to 19631775
Skeletal dysplasia v0.0 ESR1 Zornitza Stark gene: ESR1 was added
gene: ESR1 was added to Skeletal dysplasia. Sources: Expert Review Red,Expert
Mode of inheritance for gene: ESR1 was set to
Skeletal dysplasia v0.0 EP300 Zornitza Stark gene: EP300 was added
gene: EP300 was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: EP300 was set to
Phenotypes for gene: EP300 were set to Rubinstein Taybi syndrome; Rubinstein-Taybi syndrome 180849
Skeletal dysplasia v0.0 DPM3 Zornitza Stark gene: DPM3 was added
gene: DPM3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: DPM3 was set to Unknown
Phenotypes for gene: DPM3 were set to Congenital disorder of glycosylation, type Io 612937
Skeletal dysplasia v0.0 DPM2 Zornitza Stark gene: DPM2 was added
gene: DPM2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: DPM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPM2 were set to Congenital disorder of glycosylation, type Iu 615042
Skeletal dysplasia v0.0 DOLPP1 Zornitza Stark gene: DOLPP1 was added
gene: DOLPP1 was added to Skeletal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: DOLPP1 was set to Unknown
Phenotypes for gene: DOLPP1 were set to Ceroid lipofuscinosis, neuronal, 3 (required for efficient N-glycosylation CDG with skeletal features)
Skeletal dysplasia v0.0 DNAL1 Zornitza Stark gene: DNAL1 was added
gene: DNAL1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: DNAL1 was set to
Skeletal dysplasia v0.0 DNAI2 Zornitza Stark gene: DNAI2 was added
gene: DNAI2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: DNAI2 was set to
Skeletal dysplasia v0.0 DNAI1 Zornitza Stark gene: DNAI1 was added
gene: DNAI1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: DNAI1 was set to
Skeletal dysplasia v0.0 DNAH5 Zornitza Stark gene: DNAH5 was added
gene: DNAH5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: DNAH5 was set to
Skeletal dysplasia v0.0 DNAH11 Zornitza Stark gene: DNAH11 was added
gene: DNAH11 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: DNAH11 was set to
Skeletal dysplasia v0.0 DNAAF3 Zornitza Stark gene: DNAAF3 was added
gene: DNAAF3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: DNAAF3 was set to
Skeletal dysplasia v0.0 DNAAF2 Zornitza Stark gene: DNAAF2 was added
gene: DNAAF2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: DNAAF2 was set to
Skeletal dysplasia v0.0 DNAAF1 Zornitza Stark gene: DNAAF1 was added
gene: DNAAF1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: DNAAF1 was set to
Skeletal dysplasia v0.0 DLX6 Zornitza Stark gene: DLX6 was added
gene: DLX6 was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: DLX6 was set to Unknown
Publications for gene: DLX6 were set to 28611547
Phenotypes for gene: DLX6 were set to Split-hand/foot malformation 1 with sensorineural hearing loss 220600; Split-hand/foot malformation 1 183600
Skeletal dysplasia v0.0 DACT1 Zornitza Stark gene: DACT1 was added
gene: DACT1 was added to Skeletal dysplasia. Sources: Other,Literature
Mode of inheritance for gene: DACT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DACT1 were set to 22610794; 19701191; 28054444
Phenotypes for gene: DACT1 were set to ?Townes-Brocks syndrome 2,617466; TBS2
Skeletal dysplasia v0.0 CYP26B1 Zornitza Stark gene: CYP26B1 was added
gene: CYP26B1 was added to Skeletal dysplasia. Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CYP26B1 was set to
Phenotypes for gene: CYP26B1 were set to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416
Skeletal dysplasia v0.0 CRX Zornitza Stark gene: CRX was added
gene: CRX was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CRX was set to
Skeletal dysplasia v0.0 CRELD1 Zornitza Stark gene: CRELD1 was added
gene: CRELD1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CRELD1 was set to
Skeletal dysplasia v0.0 CRB1 Zornitza Stark gene: CRB1 was added
gene: CRB1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CRB1 was set to
Skeletal dysplasia v0.0 COLEC10 Zornitza Stark gene: COLEC10 was added
gene: COLEC10 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: COLEC10 was set to
Publications for gene: COLEC10 were set to 28301481
Phenotypes for gene: COLEC10 were set to 3MC syndrome 3 -248340
Skeletal dysplasia v0.0 COL5A1 Zornitza Stark gene: COL5A1 was added
gene: COL5A1 was added to Skeletal dysplasia. Sources: Expert
Mode of inheritance for gene: COL5A1 was set to
Skeletal dysplasia v0.0 COL12A1 Zornitza Stark gene: COL12A1 was added
gene: COL12A1 was added to Skeletal dysplasia. Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: COL12A1 was set to
Phenotypes for gene: COL12A1 were set to Joint hypermobility syndrome with myopathy (Zou (2014) Hum Mol Genet 23, 2339); Bethlem-like myopathy (Hicks (2014) Hum Mol Genet 23,2353); {Lung cancer, susceptibility to, association with}(Rudd (2006) Genome Res 16,693)
Skeletal dysplasia v0.0 CLRN1 Zornitza Stark gene: CLRN1 was added
gene: CLRN1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CLRN1 was set to
Skeletal dysplasia v0.0 CKAP2L Zornitza Stark gene: CKAP2L was added
gene: CKAP2L was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: CKAP2L was set to
Phenotypes for gene: CKAP2L were set to Syndactyly with microcephaly and MR (Filippi syndrome) 272440
Skeletal dysplasia v0.0 CFTR Zornitza Stark gene: CFTR was added
gene: CFTR was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CFTR was set to
Skeletal dysplasia v0.0 CEP41 Zornitza Stark gene: CEP41 was added
gene: CEP41 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CEP41 was set to
Skeletal dysplasia v0.0 CEP164 Zornitza Stark gene: CEP164 was added
gene: CEP164 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CEP164 was set to
Skeletal dysplasia v0.0 CDH23 Zornitza Stark gene: CDH23 was added
gene: CDH23 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CDH23 was set to
Skeletal dysplasia v0.0 CDC6 Zornitza Stark gene: CDC6 was added
gene: CDC6 was added to Skeletal dysplasia. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CDC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDC6 were set to Meier-Gorlin syndrome 5 613805
Skeletal dysplasia v0.0 CD96 Zornitza Stark gene: CD96 was added
gene: CD96 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: CD96 was set to
Phenotypes for gene: CD96 were set to C-syndrome 217750 (opitz trigonocephaly)
Skeletal dysplasia v0.0 CCDC40 Zornitza Stark gene: CCDC40 was added
gene: CCDC40 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CCDC40 was set to
Skeletal dysplasia v0.0 CCDC39 Zornitza Stark gene: CCDC39 was added
gene: CCDC39 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CCDC39 was set to
Skeletal dysplasia v0.0 CCDC28B Zornitza Stark gene: CCDC28B was added
gene: CCDC28B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Red
Mode of inheritance for gene: CCDC28B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC28B were set to 23015189
Phenotypes for gene: CCDC28B were set to {Bardet-Biedl syndrome 1, modifier of}, 209900
Skeletal dysplasia v0.0 C5orf42 Zornitza Stark gene: C5orf42 was added
gene: C5orf42 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: C5orf42 was set to
Skeletal dysplasia v0.0 C2orf71 Zornitza Stark gene: C2orf71 was added
gene: C2orf71 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: C2orf71 was set to
Skeletal dysplasia v0.0 BANF1 Zornitza Stark gene: BANF1 was added
gene: BANF1 was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: BANF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BANF1 were set to Nestor-Guillermo progeria syndrome 614008
Skeletal dysplasia v0.0 B9D2 Zornitza Stark gene: B9D2 was added
gene: B9D2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B9D2 were set to Meckel syndrome 10 614175
Skeletal dysplasia v0.0 ATXN10 Zornitza Stark gene: ATXN10 was added
gene: ATXN10 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: ATXN10 was set to
Mode of pathogenicity for gene: ATXN10 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Skeletal dysplasia v0.0 ARL13B Zornitza Stark gene: ARL13B was added
gene: ARL13B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: ARL13B was set to
Skeletal dysplasia v0.0 ARID1B Zornitza Stark gene: ARID1B was added
gene: ARID1B was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: ARID1B was set to
Phenotypes for gene: ARID1B were set to Coffin-Siris syndrome type 1 - 135900; Coffin-Siris
Skeletal dysplasia v0.0 ARID1A Zornitza Stark gene: ARID1A was added
gene: ARID1A was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: ARID1A was set to
Phenotypes for gene: ARID1A were set to Coffin-Siris
Skeletal dysplasia v0.0 AKT1 Zornitza Stark gene: AKT1 was added
gene: AKT1 was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: AKT1 was set to Unknown
Phenotypes for gene: AKT1 were set to Cowden syndrome 6 615109; Proteus syndrome, somatic 176920
Skeletal dysplasia v0.0 AIPL1 Zornitza Stark gene: AIPL1 was added
gene: AIPL1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: AIPL1 was set to
Skeletal dysplasia v0.0 AHI1 Zornitza Stark gene: AHI1 was added
gene: AHI1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: AHI1 was set to
Skeletal dysplasia v0.0 AFF3 Zornitza Stark gene: AFF3 was added
gene: AFF3 was added to Skeletal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: AFF3 was set to Unknown
Phenotypes for gene: AFF3 were set to No OMIM or G2P phenotype
Skeletal dysplasia v0.0 ADI1 Zornitza Stark gene: ADI1 was added
gene: ADI1 was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: ADI1 was set to Unknown
Phenotypes for gene: ADI1 were set to No OMIM or G2P phenotype
Skeletal dysplasia v0.0 ADGRV1 Zornitza Stark gene: ADGRV1 was added
gene: ADGRV1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: ADGRV1 was set to
Skeletal dysplasia v0.0 ACVR2B Zornitza Stark gene: ACVR2B was added
gene: ACVR2B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Red
Mode of inheritance for gene: ACVR2B was set to Unknown
Phenotypes for gene: ACVR2B were set to Heterotaxy, visceral, 4, autosomal 613751
Skeletal dysplasia v0.0 RAD21 Zornitza Stark gene: RAD21 was added
gene: RAD21 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Amber
Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAD21 were set to 22633399; 27620904; 30716475; 27882533; 24378232
Phenotypes for gene: RAD21 were set to Cornelia de Lange syndrome 4 614701
Skeletal dysplasia v0.0 PAM16 Zornitza Stark gene: PAM16 was added
gene: PAM16 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Expert list
Mode of inheritance for gene: PAM16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAM16 were set to 27354339; 24786642
Phenotypes for gene: PAM16 were set to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320
Skeletal dysplasia v0.0 MMP9 Zornitza Stark gene: MMP9 was added
gene: MMP9 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Amber,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: MMP9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMP9 were set to 28342220; 19615667
Phenotypes for gene: MMP9 were set to Metaphyseal anadysplasia 2 613073
Skeletal dysplasia v0.0 MIR17HG Zornitza Stark gene: MIR17HG was added
gene: MIR17HG was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Expert list,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: MIR17HG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIR17HG were set to 26360630; 21892160; 25391829; 19344873
Phenotypes for gene: MIR17HG were set to FS2; Microcephaly-oculo-digito-esophageal-duodenal syndrome; Brachydactyly with short stature and microcephaly; Feingold syndrome 2, 614326
Skeletal dysplasia v0.0 MANBA Zornitza Stark gene: MANBA was added
gene: MANBA was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MANBA were set to 18980795; 16401745; 2079835
Phenotypes for gene: MANBA were set to Beta-mannosidosis, 248510
Skeletal dysplasia v0.0 HNRNPK Zornitza Stark gene: HNRNPK was added
gene: HNRNPK was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Other
Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPK were set to 26173930; 26954065; 26638989
Phenotypes for gene: HNRNPK were set to OMIM:616580; Orphanet:453499; Au-Kline syndrome:616580; Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation
Skeletal dysplasia v0.0 HDAC4 Zornitza Stark gene: HDAC4 was added
gene: HDAC4 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Amber
Mode of inheritance for gene: HDAC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HDAC4 were set to 15521982; 25402011; 19365831; 20691407
Phenotypes for gene: HDAC4 were set to Albright hereditary osteodystrophy-like syndrome; Albright hereditary osteodystrophy type 3, Albright hereditary osteodystrophy-like syndrome, Brachydactyly-intellectual disability, Del(2)(q37) 600430; Albright hereditary osteodystrophy type 3; Brachydactyly-intellectual disability; Del(2)(q37) 600430
Skeletal dysplasia v0.0 GZF1 Zornitza Stark gene: GZF1 was added
gene: GZF1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Literature
Mode of inheritance for gene: GZF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GZF1 were set to 28475863
Phenotypes for gene: GZF1 were set to Larsen syndrome
Skeletal dysplasia v0.0 GPX4 Zornitza Stark gene: GPX4 was added
gene: GPX4 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Expert list,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: GPX4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPX4 were set to 24706940
Phenotypes for gene: GPX4 were set to Spondylometaphyseal dysplasia, Sedaghatian type 250220
Skeletal dysplasia v0.0 FBLN1 Zornitza Stark gene: FBLN1 was added
gene: FBLN1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Amber
Mode of inheritance for gene: FBLN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FBLN1 were set to 24084572
Phenotypes for gene: FBLN1 were set to Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180
Skeletal dysplasia v0.0 DCC Zornitza Stark gene: DCC was added
gene: DCC was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Literature
Mode of inheritance for gene: DCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCC were set to 28250456
Phenotypes for gene: DCC were set to Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542; Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542
Skeletal dysplasia v0.0 B9D1 Zornitza Stark gene: B9D1 was added
gene: B9D1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Amber,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B9D1 were set to 21493627; 24886560
Phenotypes for gene: B9D1 were set to Meckel syndrome 9 614209
Skeletal dysplasia v0.0 ABL1 Zornitza Stark gene: ABL1 was added
gene: ABL1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Literature
Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ABL1 were set to 28288113
Phenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations syndrome, 617602
Mode of pathogenicity for gene: ABL1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Skeletal dysplasia v0.0 ZSWIM6 Zornitza Stark gene: ZSWIM6 was added
gene: ZSWIM6 was added to Skeletal dysplasia. Sources: Other,Expert Review Green
Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZSWIM6 were set to 25105228
Phenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis 603671
Skeletal dysplasia v0.0 ZMPSTE24 Zornitza Stark gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZMPSTE24 were set to Restrictive dermopathy, lethal 275210; Mandibuloacral dysplasia with type B lipodystrophy 608612
Skeletal dysplasia v0.0 YY1 Zornitza Stark gene: YY1 was added
gene: YY1 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green
Mode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: YY1 were set to 28575647
Phenotypes for gene: YY1 were set to Gabriele-de Vries syndrome 617557; Gabriele-de Vries syndrome 617557
Skeletal dysplasia v0.0 XYLT2 Zornitza Stark gene: XYLT2 was added
gene: XYLT2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XYLT2 were set to 26987875
Phenotypes for gene: XYLT2 were set to Spondyloocular syndrome 605822
Skeletal dysplasia v0.0 XYLT1 Zornitza Stark gene: XYLT1 was added
gene: XYLT1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XYLT1 were set to Desbuquois dysplasia 2 615777; Desbuquois dysplasia 2 615777
Skeletal dysplasia v0.0 XRCC4 Zornitza Stark gene: XRCC4 was added
gene: XRCC4 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XRCC4 were set to Short stature, microcephaly, and endocrine dysfunction 616541
Skeletal dysplasia v0.0 WNT7A Zornitza Stark gene: WNT7A was added
gene: WNT7A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT7A were set to Ulna and fibula, absence of, with severe limb deficiency 276820; Fuhrmann syndrome 228930
Skeletal dysplasia v0.0 WNT5A Zornitza Stark gene: WNT5A was added
gene: WNT5A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: WNT5A were set to Robinow syndrome, autosomal dominant 1 180700
Skeletal dysplasia v0.0 WNT10B Zornitza Stark gene: WNT10B was added
gene: WNT10B was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: WNT10B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT10B were set to 24211389
Phenotypes for gene: WNT10B were set to Split-hand/foot malformation 6 225300
Skeletal dysplasia v0.0 WNT1 Zornitza Stark gene: WNT1 was added
gene: WNT1 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert,Expert Review Green
Mode of inheritance for gene: WNT1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: WNT1 were set to OI/osteoporosis; osteogenesis imperfecta; Osteogenesis imperfecta, type XV, 615220; {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221
Skeletal dysplasia v0.0 WISP3 Zornitza Stark gene: WISP3 was added
gene: WISP3 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: WISP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WISP3 were set to Arthropathy, progressive pseudorheumatoid, of childhood 208230; Spondyloepiphyseal dysplasia tarda with progressive arthropathy 208230
Skeletal dysplasia v0.0 WDR60 Zornitza Stark gene: WDR60 was added
gene: WDR60 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: WDR60 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR60 were set to Short-rib thoracic dysplasia 8 with or without polydactyly 615503
Skeletal dysplasia v0.0 WDR35 Zornitza Stark gene: WDR35 was added
gene: WDR35 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR35 were set to Cranioectodermal dysplasia 2 613610; Short-rib thoracic dysplasia 7 with or without polydactyly 614091
Skeletal dysplasia v0.0 WDR34 Zornitza Stark gene: WDR34 was added
gene: WDR34 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR34 were set to Short-rib thoracic dysplasia 11 with or without polydactyly, 615633
Skeletal dysplasia v0.0 WDR19 Zornitza Stark gene: WDR19 was added
gene: WDR19 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR19 were set to 24504730; 22019273
Phenotypes for gene: WDR19 were set to Short-rib thoracic dysplasia 5 with or without polydactyly, 614376; Asphyxiating thoracic dystrophy 5, 614376; Cranioectodermal dysplasia 4, 614378; SRTD5
Skeletal dysplasia v0.0 WDPCP Zornitza Stark gene: WDPCP was added
gene: WDPCP was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDPCP were set to 28289185; 27158779; 25427950
Phenotypes for gene: WDPCP were set to ?Bardet-Biedl syndrome 15, 615992; ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085
Skeletal dysplasia v0.0 VDR Zornitza Stark gene: VDR was added
gene: VDR was added to Skeletal dysplasia. Sources: Expert,Expert Review Green
Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VDR were set to Rickets, vitamin D-resistant, type IIA, 277440
Skeletal dysplasia v0.0 TYROBP Zornitza Stark gene: TYROBP was added
gene: TYROBP was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYROBP were set to Nasu-Hakola disease 221770
Skeletal dysplasia v0.0 TWIST1 Zornitza Stark gene: TWIST1 was added
gene: TWIST1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TWIST1 were set to Craniosynostosis, type 1 123100; Saethre-Chotzen syndrome with eyelid anomalies 101400; Saethre-Chotzen syndrome 101400; Robinow-Sorauf syndrome 180750
Skeletal dysplasia v0.0 TTC8 Zornitza Stark gene: TTC8 was added
gene: TTC8 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC8 were set to Polydactyly; Bardet-Biedl syndrome 8, 615985
Skeletal dysplasia v0.0 TTC21B Zornitza Stark gene: TTC21B was added
gene: TTC21B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC21B were set to SRTD4; Asphyxiating Thoracic Dystrophy; Nephronophthisis 12, 613820
Skeletal dysplasia v0.0 TRPV6 Zornitza Stark gene: TRPV6 was added
gene: TRPV6 was added to Skeletal dysplasia. Sources: Literature,Expert Review Green
Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPV6 were set to 29861107
Phenotypes for gene: TRPV6 were set to Hyperparathyroidism, transient neonatal, 618188
Skeletal dysplasia v0.0 TRPV4 Zornitza Stark gene: TRPV4 was added
gene: TRPV4 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRPV4 were set to Digital arthropathy-brachydactyly, familial 606835; Parastremmatic dwarfism 168400; Scapuloperoneal spinal muscular atrophy 181405; SED, Maroteaux type 184095; Brachyolmia type 3 113500; Hereditary motor and sensory neuropathy, type IIc 606071; Spinal muscular atrophy, distal, congenital nonprogressive 600175; Metatropic dysplasia 156530; Spondylometaphyseal dysplasia, Kozlowski type 184252
Skeletal dysplasia v0.0 TRPS1 Zornitza Stark gene: TRPS1 was added
gene: TRPS1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TRPS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRPS1 were set to Trichorhinophalangeal syndrome, type I 190350; Trichorhinophalangeal syndrome, type III 190351
Skeletal dysplasia v0.0 TRIP11 Zornitza Stark gene: TRIP11 was added
gene: TRIP11 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIP11 were set to Achondrogenesis, type IA 200600; Achondrogenesis, type IA 200600
Skeletal dysplasia v0.0 TREM2 Zornitza Stark gene: TREM2 was added
gene: TREM2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TREM2 were set to Nasu-Hakola disease 221770
Skeletal dysplasia v0.0 TRAPPC2 Zornitza Stark gene: TRAPPC2 was added
gene: TRAPPC2 was added to Skeletal dysplasia. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,Expert Review Green
Mode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TRAPPC2 were set to Spondyloepiphyseal dysplasia tarda 313400; Spondyloepiphyseal dysplasia tarda 313400
Skeletal dysplasia v0.0 TP63 Zornitza Stark gene: TP63 was added
gene: TP63 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TP63 were set to Hay-Wells syndrome 106260; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292; Limb-mammary syndrome 603543; Rapp-Hodgkin syndrome 129400; Orofacial cleft 8 129400; ULT syndrome 103285; Split-hand/foot malformation 4 605289
Skeletal dysplasia v0.0 TNFSF11 Zornitza Stark gene: TNFSF11 was added
gene: TNFSF11 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2 259710
Skeletal dysplasia v0.0 TNFRSF11B Zornitza Stark gene: TNFRSF11B was added
gene: TNFRSF11B was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF11B were set to Paget disease of bone 5, juvenile-onset 239000; Paget disease of bone 5, juvenile-onset 239000
Skeletal dysplasia v0.0 TNFRSF11A Zornitza Stark gene: TNFRSF11A was added
gene: TNFRSF11A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: TNFRSF11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TNFRSF11A were set to Osteolysis, familial expansile 174810; Paget disease of bone 2, early-onset 602080; Osteopetrosis, autosomal recessive 7 612301
Skeletal dysplasia v0.0 TMEM38B Zornitza Stark gene: TMEM38B was added
gene: TMEM38B was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert,Expert Review Green
Mode of inheritance for gene: TMEM38B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM38B were set to Osteogenesis imperfecta, type XIV 615066; osteogenesis imperfecta; Osteogenesis imperfecta, type XIV, 615066
Skeletal dysplasia v0.0 TMEM231 Zornitza Stark gene: TMEM231 was added
gene: TMEM231 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM231 were set to Meckel syndrome 11 615397; Joubert syndrome 20 614970
Skeletal dysplasia v0.0 TMEM216 Zornitza Stark gene: TMEM216 was added
gene: TMEM216 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM216 were set to Meckel syndrome 2 603194; Joubert syndrome 2 608091
Skeletal dysplasia v0.0 TMEM165 Zornitza Stark gene: TMEM165 was added
gene: TMEM165 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM165 were set to Congenital disorder of glycosylation, type IIk 614727
Skeletal dysplasia v0.0 TMCO1 Zornitza Stark gene: TMCO1 was added
gene: TMCO1 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMCO1 were set to 24424126
Phenotypes for gene: TMCO1 were set to Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980; Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980
Skeletal dysplasia v0.0 TGFBR2 Zornitza Stark gene: TGFBR2 was added
gene: TGFBR2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome 2 610168
Skeletal dysplasia v0.0 TGFB2 Zornitza Stark gene: TGFB2 was added
gene: TGFB2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome 4 614816
Skeletal dysplasia v0.0 TGFB1 Zornitza Stark gene: TGFB1 was added
gene: TGFB1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TGFB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB1 were set to Camurati-Engelmann disease 131300; Camurati-Engelmann disease 131300
Skeletal dysplasia v0.0 TERT Zornitza Stark gene: TERT was added
gene: TERT was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TERT were set to Dyskeratosis congenita, autosomal dominant 2 and autosomal recessive 4 613989
Skeletal dysplasia v0.0 TCTN3 Zornitza Stark gene: TCTN3 was added
gene: TCTN3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCTN3 were set to 22883145
Phenotypes for gene: TCTN3 were set to Orofaciodigital syndrome IV 258860; Joubert syndrome 18 614815
Skeletal dysplasia v0.0 TCTN2 Zornitza Stark gene: TCTN2 was added
gene: TCTN2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN2 were set to Meckel syndrome 8 613885; Joubert syndrome 24 616654
Skeletal dysplasia v0.0 TCTEX1D2 Zornitza Stark gene: TCTEX1D2 was added
gene: TCTEX1D2 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green
Mode of inheritance for gene: TCTEX1D2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCTEX1D2 were set to 25830415; 26044572
Phenotypes for gene: TCTEX1D2 were set to Short-rib thoracic dysplasia 17 with or without polydactyly, 617405
Skeletal dysplasia v0.0 TCOF1 Zornitza Stark gene: TCOF1 was added
gene: TCOF1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TCOF1 were set to Treacher Collins syndrome 1 154500
Skeletal dysplasia v0.0 TCIRG1 Zornitza Stark gene: TCIRG1 was added
gene: TCIRG1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCIRG1 were set to Osteopetrosis, autosomal recessive 1 259700
Skeletal dysplasia v0.0 TBXAS1 Zornitza Stark gene: TBXAS1 was added
gene: TBXAS1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: TBXAS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TBXAS1 were set to Ghosal hematodiaphyseal syndrome 231095
Skeletal dysplasia v0.0 TBX6 Zornitza Stark gene: TBX6 was added
gene: TBX6 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TBX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TBX6 were set to Spondylocostal dysostosis 5 122600; Spondylocostal dysostosis 5 122600
Skeletal dysplasia v0.0 TBX5 Zornitza Stark gene: TBX5 was added
gene: TBX5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TBX5 were set to Holt-Oram syndrome 142900
Skeletal dysplasia v0.0 TBX4 Zornitza Stark gene: TBX4 was added
gene: TBX4 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TBX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TBX4 were set to Ischiocoxopodopatellar syndrome 147891; Ischiocoxopodopatellar syndrome 147891
Skeletal dysplasia v0.0 TBX3 Zornitza Stark gene: TBX3 was added
gene: TBX3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBX3 were set to 30654152; 28145909; 28961683
Phenotypes for gene: TBX3 were set to Ulnar-mammary syndrome 181450
Skeletal dysplasia v0.0 TBX15 Zornitza Stark gene: TBX15 was added
gene: TBX15 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: TBX15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBX15 were set to 24039145
Phenotypes for gene: TBX15 were set to Cousin syndrome 260660
Skeletal dysplasia v0.0 TBCE Zornitza Stark gene: TBCE was added
gene: TBCE was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCE were set to Hypoparathyroidism-retardation-dysmorphism syndrome 241410; Kenny-Caffey syndrome, type 1 244460.; Kenny-Caffey syndrome, type 1 244460
Skeletal dysplasia v0.0 TAPT1 Zornitza Stark gene: TAPT1 was added
gene: TAPT1 was added to Skeletal dysplasia. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAPT1 were set to 26365339
Phenotypes for gene: TAPT1 were set to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897
Skeletal dysplasia v0.0 TALDO1 Zornitza Stark gene: TALDO1 was added
gene: TALDO1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TALDO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TALDO1 were set to 25388407; 26238251
Phenotypes for gene: TALDO1 were set to Transaldolase deficiency 606003
Skeletal dysplasia v0.0 SUMF1 Zornitza Stark gene: SUMF1 was added
gene: SUMF1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency 272200
Skeletal dysplasia v0.0 SPARC Zornitza Stark gene: SPARC was added
gene: SPARC was added to Skeletal dysplasia. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: SPARC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPARC were set to 26027498
Phenotypes for gene: SPARC were set to Osteogenesis imperfecta, type XVII 616507
Skeletal dysplasia v0.0 SP7 Zornitza Stark gene: SP7 was added
gene: SP7 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SP7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SP7 were set to 29382611; 2057926
Phenotypes for gene: SP7 were set to Osteogenesis imperfecta, type XII 613849
Skeletal dysplasia v0.0 SOX9 Zornitza Stark gene: SOX9 was added
gene: SOX9 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SOX9 were set to Campomelic dysplasia with autosomal sex reversal 114290; Campomelic dysplasia 114290; Acampomelic campomelic dysplasia 114290
Skeletal dysplasia v0.0 SOST Zornitza Stark gene: SOST was added
gene: SOST was added to Skeletal dysplasia. Sources: NHS GMS,Expert,Expert Review Green
Mode of inheritance for gene: SOST was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SOST were set to Craniodiaphyseal dysplasia, autosomal dominant 122860; Van Buchem disease 239100; Sclerosteosis 1 269500
Skeletal dysplasia v0.0 SNX10 Zornitza Stark gene: SNX10 was added
gene: SNX10 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: SNX10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNX10 were set to 23280965
Phenotypes for gene: SNX10 were set to Osteopetrosis, autosomal recessive 8 615085
Skeletal dysplasia v0.0 SNRPB Zornitza Stark gene: SNRPB was added
gene: SNRPB was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: SNRPB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SNRPB were set to Cerebrocostomandibular syndrome 117650
Skeletal dysplasia v0.0 SMOC1 Zornitza Stark gene: SMOC1 was added
gene: SMOC1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review,Expert Review Green
Mode of inheritance for gene: SMOC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMOC1 were set to 21194680; 21194678
Phenotypes for gene: SMOC1 were set to Ophthalmo-acromelic syndrome; Polydactyly; Microphthalmia with limb anomalies 206920
Skeletal dysplasia v0.0 SMC3 Zornitza Stark gene: SMC3 was added
gene: SMC3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMC3 were set to Cornelia de Lange syndrome 3 610759
Skeletal dysplasia v0.0 SMC1A Zornitza Stark gene: SMC1A was added
gene: SMC1A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: SMC1A were set to Cornelia de Lange syndrome 2 300590
Skeletal dysplasia v0.0 SMARCAL1 Zornitza Stark gene: SMARCAL1 was added
gene: SMARCAL1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia 242900; Schimke immunoosseous dysplasia 242900
Skeletal dysplasia v0.0 SMAD4 Zornitza Stark gene: SMAD4 was added
gene: SMAD4 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD4 were set to Myhre syndrome 139210; Myhre syndrome 139210
Skeletal dysplasia v0.0 SMAD3 Zornitza Stark gene: SMAD3 was added
gene: SMAD3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD3 were set to Loeys-Dietz syndrome 3 613795
Skeletal dysplasia v0.0 SLCO2A1 Zornitza Stark gene: SLCO2A1 was added
gene: SLCO2A1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SLCO2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLCO2A1 were set to Hypertrophic osteoarthropathy, primary, autosomal recessive 2 614441; Hypertrophic osteoarthropathy, primary, autosomal recessive 2 614441
Skeletal dysplasia v0.0 SLC39A13 Zornitza Stark gene: SLC39A13 was added
gene: SLC39A13 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: SLC39A13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A13 were set to Spondylocheirodysplasia, Ehlers-Danlos syndrome-like 612350
Skeletal dysplasia v0.0 SLC35D1 Zornitza Stark gene: SLC35D1 was added
gene: SLC35D1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35D1 were set to Schneckenbecken dysplasia 269250; Schneckenbecken dysplasia 269250
Skeletal dysplasia v0.0 SLC35C1 Zornitza Stark gene: SLC35C1 was added
gene: SLC35C1 was added to Skeletal dysplasia. Sources: Other,Expert Review Green
Mode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35C1 were set to 12476046; 11326280
Phenotypes for gene: SLC35C1 were set to GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Congenital disorder of glycosylation, type IIc 266265
Skeletal dysplasia v0.0 SLC34A3 Zornitza Stark gene: SLC34A3 was added
gene: SLC34A3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC34A3 were set to Hypophosphatemic rickets with hypercalciuria 241530
Skeletal dysplasia v0.0 SLC34A1 Zornitza Stark gene: SLC34A1 was added
gene: SLC34A1 was added to Skeletal dysplasia. Sources: Other,Expert Review Green
Mode of inheritance for gene: SLC34A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC34A1 were set to 12324554; 25050900; 9560283
Phenotypes for gene: SLC34A1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286
Skeletal dysplasia v0.0 SLC29A3 Zornitza Stark gene: SLC29A3 was added
gene: SLC29A3 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome 602782
Skeletal dysplasia v0.0 SLC26A2 Zornitza Stark gene: SLC26A2 was added
gene: SLC26A2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Illumina TruGenome Clinical Sequencing Services,Expert Review Green
Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A2 were set to multiple epiphyseal dysplasia; Epiphyseal dysplasia, multiple, 4; ACG1B,DD,rMED; Multiple Epiphyseal Dysplasia, Recessive
Skeletal dysplasia v0.0 SLC17A5 Zornitza Stark gene: SLC17A5 was added
gene: SLC17A5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC17A5 were set to Sialic acid storage disorder, infantile 269920
Skeletal dysplasia v0.0 SLC10A7 Zornitza Stark gene: SLC10A7 was added
gene: SLC10A7 was added to Skeletal dysplasia. Sources: Literature,Expert Review Green
Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC10A7 were set to 30082715
Phenotypes for gene: SLC10A7 were set to skeletal dysplasia and amelogenesis imperfecta; Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 618363
Skeletal dysplasia v0.0 SKI Zornitza Stark gene: SKI was added
gene: SKI was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SKI were set to Shprintzen-Goldberg syndrome 182212
Skeletal dysplasia v0.0 SHOX Zornitza Stark gene: SHOX was added
gene: SHOX was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: SHOX were set to Leri-Weill dyschondrosteosis 127300; Short stature, idiopathic familial 300582; Langer mesomelic dysplasia 249700
Skeletal dysplasia v0.0 SH3PXD2B Zornitza Stark gene: SH3PXD2B was added
gene: SH3PXD2B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SH3PXD2B were set to Frank-ter Haar syndrome 249420
Skeletal dysplasia v0.0 SH3BP2 Zornitza Stark gene: SH3BP2 was added
gene: SH3BP2 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SH3BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SH3BP2 were set to Cherubism 118400
Skeletal dysplasia v0.0 SGSH Zornitza Stark gene: SGSH was added
gene: SGSH was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGSH were set to Mucopolysaccharidisis type IIIA (Sanfilippo A) 252900
Skeletal dysplasia v0.0 SFRP4 Zornitza Stark gene: SFRP4 was added
gene: SFRP4 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green
Mode of inheritance for gene: SFRP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SFRP4 were set to 28100910; 27355534; 26273529; 27117872; 20174869; 24096177; 22965941; 22387305
Phenotypes for gene: SFRP4 were set to PYL; Pyle disease 265900; Metaphyseal dysplasia
Skeletal dysplasia v0.0 SF3B4 Zornitza Stark gene: SF3B4 was added
gene: SF3B4 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SF3B4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SF3B4 were set to Acrofacial dysostosis 1, Nager type 154400
Skeletal dysplasia v0.0 SETD2 Zornitza Stark gene: SETD2 was added
gene: SETD2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: SETD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SETD2 were set to Luscan-Lumish syndrome 616831; Luscan-Lumish syndrome 616831
Skeletal dysplasia v0.0 SERPINH1 Zornitza Stark gene: SERPINH1 was added
gene: SERPINH1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINH1 were set to 20188343; 25510505
Phenotypes for gene: SERPINH1 were set to Osteogenesis imperfecta, type X, 613848; OI3; Osteogenesis Imperfecta and Decreased Bone Density; {Preterm premature rupture of the membranes, susceptibility to}, 610504; skeletal dysplasias; Osteogenesis Imperfecta, Recessive
Skeletal dysplasia v0.0 SERPINF1 Zornitza Stark gene: SERPINF1 was added
gene: SERPINF1 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SERPINF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINF1 were set to OI/osteoporosis; osteogenesis imperfecta; Osteogenesis Imperfecta, Recessive; Osteogenesis imperfecta, type VI, 613982
Skeletal dysplasia v0.0 SEC24D Zornitza Stark gene: SEC24D was added
gene: SEC24D was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review,Expert Review Green
Mode of inheritance for gene: SEC24D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC24D were set to 25683121
Phenotypes for gene: SEC24D were set to Cole-Carpenter syndrome; SYNDROMIC OSTEOGENESIS IMPERFECTA; Osteogenesis Imperfecta, Cole Carpenter syndrome
Skeletal dysplasia v0.0 SCARF2 Zornitza Stark gene: SCARF2 was added
gene: SCARF2 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCARF2 were set to Van den Ende-Gupta syndrome 600920
Skeletal dysplasia v0.0 SBDS Zornitza Stark gene: SBDS was added
gene: SBDS was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Expert Review
Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBDS were set to Shwachman-Diamond syndrome 260400; Shwachman-Diamond syndrome 260400
Skeletal dysplasia v0.0 SALL4 Zornitza Stark gene: SALL4 was added
gene: SALL4 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SALL4 were set to IVIC syndrome 147750; Okihiro (Duane-radial ray) syndrome 607323
Skeletal dysplasia v0.0 SALL1 Zornitza Stark gene: SALL1 was added
gene: SALL1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SALL1 were set to Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480
Skeletal dysplasia v0.0 RUNX2 Zornitza Stark gene: RUNX2 was added
gene: RUNX2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: RUNX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RUNX2 were set to Cleidocranial dysplasia, forme fruste, with brachydactyly 119600; Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510; Cleidocranial dysplasia, forme fruste, dental anomalies only 119600; Cleidocranial dysplasia 119600
Skeletal dysplasia v0.0 RPL13 Zornitza Stark gene: RPL13 was added
gene: RPL13 was added to Skeletal dysplasia. Sources: Literature,Expert Review Green
Mode of inheritance for gene: RPL13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL13 were set to 31630789
Phenotypes for gene: RPL13 were set to Spondyloepimetaphyseal Dysplasia with Severe Short Stature
Skeletal dysplasia v0.0 RPGRIP1L Zornitza Stark gene: RPGRIP1L was added
gene: RPGRIP1L was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1L were set to COACH syndrome 216360; Joubert syndrome 7 611560; Meckel syndrome 5 611561
Skeletal dysplasia v0.0 ROR2 Zornitza Stark gene: ROR2 was added
gene: ROR2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ROR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ROR2 were set to Brachydactyly, type B1 113000; Robinow syndrome, autosomal recessive 268310
Skeletal dysplasia v0.0 RNU4ATAC Zornitza Stark gene: RNU4ATAC was added
gene: RNU4ATAC was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNU4ATAC were set to Microcephalic osteodysplastic primordial dwarfism, type I 210710; Roifman syndrome 616651
Skeletal dysplasia v0.0 RMRP Zornitza Stark gene: RMRP was added
gene: RMRP was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMRP were set to Metaphyseal dysplasia without hypotrichosis 250460; Anauxetic dysplasia 607095; Cartilage-hair hypoplasia 250250
Skeletal dysplasia v0.0 RFT1 Zornitza Stark gene: RFT1 was added
gene: RFT1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFT1 were set to Congenital disorder of glycosylation, type In 612015
Skeletal dysplasia v0.0 RECQL4 Zornitza Stark gene: RECQL4 was added
gene: RECQL4 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome 268400; Baller-Gerold syndrome 218600; RAPILINO syndrome 266280
Skeletal dysplasia v0.0 RBPJ Zornitza Stark gene: RBPJ was added
gene: RBPJ was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: RBPJ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RBPJ were set to 28160419; 22883147; 29924900
Phenotypes for gene: RBPJ were set to Adams-Oliver syndrome 3, 614814
Skeletal dysplasia v0.0 RBM8A Zornitza Stark gene: RBM8A was added
gene: RBM8A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBM8A were set to Thrombocytopenia-absent radius syndrome 274000
Skeletal dysplasia v0.0 RASGRP2 Zornitza Stark gene: RASGRP2 was added
gene: RASGRP2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: RASGRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RASGRP2 were set to 18709451; 24958846
Phenotypes for gene: RASGRP2 were set to Bleeding disorder, platelet-type, 18 615888, also with osteopetrosis like bone abnormalities and neurodevelopmental defects; Bleeding disorder, platelet-type, 18 615888
Skeletal dysplasia v0.0 RAB33B Zornitza Stark gene: RAB33B was added
gene: RAB33B was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: RAB33B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB33B were set to 23042644; 28127940; 22652534; 16470731
Phenotypes for gene: RAB33B were set to Smith-McCort dysplasia 2 615222
Skeletal dysplasia v0.0 RAB23 Zornitza Stark gene: RAB23 was added
gene: RAB23 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB23 were set to Carpenter syndrome 201000
Skeletal dysplasia v0.0 PYCR1 Zornitza Stark gene: PYCR1 was added
gene: PYCR1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIIB 614438; Cutis laxa, autosomal recessive, type IIB 612940
Skeletal dysplasia v0.0 PUF60 Zornitza Stark gene: PUF60 was added
gene: PUF60 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Other,Expert Review Green
Mode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PUF60 were set to 28327570; 24140112; 27804958
Phenotypes for gene: PUF60 were set to Verheij syndrome, 615583; Chromosome 8q24.3 deletion syndrome; VRJS; PUF60 syndrome
Skeletal dysplasia v0.0 PTPN11 Zornitza Stark gene: PTPN11 was added
gene: PTPN11 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTPN11 were set to LEOPARD syndrome 1 151100; Noonan syndrome 1 163950; Metachondromatosis 156250; LEOPARD syndrome 1 151100
Skeletal dysplasia v0.0 PTHLH Zornitza Stark gene: PTHLH was added
gene: PTHLH was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PTHLH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTHLH were set to Brachydactyly, type E2 613382; Brachydactyly, type E2 613382
Skeletal dysplasia v0.0 PTH1R Zornitza Stark gene: PTH1R was added
gene: PTH1R was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PTH1R were set to Eiken syndrome 600002; Chondrodysplasia, Blomstrand type 215045; Failure of tooth eruption, primary 125350; Metaphyseal chondrodysplasia, Murk Jansen type 156400
Skeletal dysplasia v0.0 PTDSS1 Zornitza Stark gene: PTDSS1 was added
gene: PTDSS1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTDSS1 were set to Lenz-Majewski hyperostotic dwarfism 151050
Skeletal dysplasia v0.0 PSPH Zornitza Stark gene: PSPH was added
gene: PSPH was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSPH were set to Phosphoserine phosphatase deficiency 614023
Skeletal dysplasia v0.0 PSAT1 Zornitza Stark gene: PSAT1 was added
gene: PSAT1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2 616038
Skeletal dysplasia v0.0 PRMT7 Zornitza Stark gene: PRMT7 was added
gene: PRMT7 was added to Skeletal dysplasia. Sources: NHS GMS,Other,Expert Review Green
Mode of inheritance for gene: PRMT7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRMT7 were set to Short stature, brachydactyly, intellectual developmental disability, and seizures 617157
Skeletal dysplasia v0.0 PRKAR1A Zornitza Stark gene: PRKAR1A was added
gene: PRKAR1A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PRKAR1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PRKAR1A were set to Pigmented nodular adrenocortical disease, primary, 1 610489; Acrodysostosis 1, with or without hormone resistance 101800; Myxoma, intracardiac 255960
Skeletal dysplasia v0.0 PPIB Zornitza Stark gene: PPIB was added
gene: PPIB was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PPIB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPIB were set to Osteogenesis imperfecta, type IX 259440; Osteogenesis imperfecta, type IX 259440
Skeletal dysplasia v0.0 POR Zornitza Stark gene: POR was added
gene: POR was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571
Skeletal dysplasia v0.0 POP1 Zornitza Stark gene: POP1 was added
gene: POP1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: POP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POP1 were set to 27380734; 28067412; 21455487
Phenotypes for gene: POP1 were set to Anauxetic dysplasia 2, 617396
Skeletal dysplasia v0.0 POLR1D Zornitza Stark gene: POLR1D was added
gene: POLR1D was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: POLR1D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLR1D were set to Treacher Collins syndrome 2 613717
Skeletal dysplasia v0.0 POLR1C Zornitza Stark gene: POLR1C was added
gene: POLR1C was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR1C were set to Treacher Collins syndrome 3 248390
Skeletal dysplasia v0.0 POLR1A Zornitza Stark gene: POLR1A was added
gene: POLR1A was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR1A were set to 25913037
Phenotypes for gene: POLR1A were set to Acrofacial dysostosis, Cincinnati type 616462
Skeletal dysplasia v0.0 POC1A Zornitza Stark gene: POC1A was added
gene: POC1A was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POC1A were set to 26374189; 26162852; 26336158
Phenotypes for gene: POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813; Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813
Skeletal dysplasia v0.0 PLS3 Zornitza Stark gene: PLS3 was added
gene: PLS3 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review,Expert Review Green
Mode of inheritance for gene: PLS3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PLS3 were set to Bone mineral density QTL18, osteoporosis 300910
Skeletal dysplasia v0.0 PLOD2 Zornitza Stark gene: PLOD2 was added
gene: PLOD2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert,Expert Review Green
Mode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD2 were set to Bruck syndrome 2 609220
Skeletal dysplasia v0.0 PITX1 Zornitza Stark gene: PITX1 was added
gene: PITX1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: PITX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PITX1 were set to 23587911; 23022097; 30459804
Phenotypes for gene: PITX1 were set to Liebenberg syndrome 186550; Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800
Skeletal dysplasia v0.0 PIK3R1 Zornitza Stark gene: PIK3R1 was added
gene: PIK3R1 was added to Skeletal dysplasia. Sources: UKGTN,NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIK3R1 were set to SHORT syndrome 269880
Skeletal dysplasia v0.0 PIK3C2A Zornitza Stark gene: PIK3C2A was added
gene: PIK3C2A was added to Skeletal dysplasia. Sources: Literature,Expert Review Green
Mode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIK3C2A were set to 31034465
Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome 618440
Skeletal dysplasia v0.0 PIGV Zornitza Stark gene: PIGV was added
gene: PIGV was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGV were set to Hyperphosphatasia with mental retardation syndrome 1 239300
Skeletal dysplasia v0.0 PIGT Zornitza Stark gene: PIGT was added
gene: PIGT was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: PIGT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGT were set to 28327575; 29868109
Phenotypes for gene: PIGT were set to Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398
Skeletal dysplasia v0.0 PHGDH Zornitza Stark gene: PHGDH was added
gene: PHGDH was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHGDH were set to Phosphoglycerate dehydrogenase deficiency 601815; Neu-Laxova syndrome 1 256520
Skeletal dysplasia v0.0 PHEX Zornitza Stark gene: PHEX was added
gene: PHEX was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PHEX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PHEX were set to Hypophosphatemic rickets, X-linked dominant 307800
Skeletal dysplasia v0.0 PGM3 Zornitza Stark gene: PGM3 was added
gene: PGM3 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGM3 were set to 24931394
Phenotypes for gene: PGM3 were set to Immunodeficiency 23 615816; Immunodeficiency 23 615816
Skeletal dysplasia v0.0 PEX7 Zornitza Stark gene: PEX7 was added
gene: PEX7 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX7 were set to 28742517; 7719337; 25800479
Phenotypes for gene: PEX7 were set to Rhizomelic CDP type 1; Rhizomelic chondrodysplasia punctata, type 1, 215100
Skeletal dysplasia v0.0 PEX5 Zornitza Stark gene: PEX5 was added
gene: PEX5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX5 were set to 18712838
Phenotypes for gene: PEX5 were set to Rhizomelic chondrodysplasia punctata, type 5 616716; Peroxisome biogenesis disorder 2A (Zellweger) 214110
Skeletal dysplasia v0.0 PDE4D Zornitza Stark gene: PDE4D was added
gene: PDE4D was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PDE4D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PDE4D were set to Acrodysostosis 2, with or without hormone resistance 614613; Acrodysostosis 2, with or without hormone resistance 614613
Skeletal dysplasia v0.0 PDE3A Zornitza Stark gene: PDE3A was added
gene: PDE3A was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green
Mode of inheritance for gene: PDE3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDE3A were set to 25961942; 9696728
Phenotypes for gene: PDE3A were set to Hypertension and brachydactyly syndrome, 112410
Mode of pathogenicity for gene: PDE3A was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Skeletal dysplasia v0.0 PCYT1A Zornitza Stark gene: PCYT1A was added
gene: PCYT1A was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCYT1A were set to Spondylometaphyseal dysplasia with cone-rod dystrophy 608940; Spondylometaphyseal dysplasia with cone-rod dystrophy 608940
Skeletal dysplasia v0.0 PCNT Zornitza Stark gene: PCNT was added
gene: PCNT was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II 210720
Skeletal dysplasia v0.0 PAX3 Zornitza Stark gene: PAX3 was added
gene: PAX3 was added to Skeletal dysplasia. Sources: Illumina TruGenome Clinical Sequencing Services,Expert Review Green
Mode of inheritance for gene: PAX3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PAX3 were set to 7726174; 26443304; 12949970; 30173992; 8447316; 11683776; 6340503
Phenotypes for gene: PAX3 were set to Waardenburg syndrome, type 3, 148820; Craniofacial-deafness-hand syndrome, 122880; Waardenburg syndrome, type 1, 193500
Skeletal dysplasia v0.0 PAPSS2 Zornitza Stark gene: PAPSS2 was added
gene: PAPSS2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PAPSS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAPSS2 were set to Brachyolmia 4 with mild epiphyseal and metaphyseal changes 612847
Skeletal dysplasia v0.0 P4HB Zornitza Stark gene: P4HB was added
gene: P4HB was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review,Expert Review Green
Mode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: P4HB were set to 25683117; 29384951; 30063094
Phenotypes for gene: P4HB were set to Cole-Carpenter syndrome 1 112240; Cole-Carpenter syndrome 1 112240
Mode of pathogenicity for gene: P4HB was set to Other
Skeletal dysplasia v0.0 P3H1 Zornitza Stark gene: P3H1 was added
gene: P3H1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,UKGTN
Mode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: P3H1 were set to Osteogenesis imperfecta, type VIII 610915
Skeletal dysplasia v0.0 OSTM1 Zornitza Stark gene: OSTM1 was added
gene: OSTM1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OSTM1 were set to Osteopetrosis, autosomal recessive 5 259720
Skeletal dysplasia v0.0 ORC6 Zornitza Stark gene: ORC6 was added
gene: ORC6 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC6 were set to Meier-Gorlin syndrome 3 613803; Meier-Gorlin syndrome 3 613803
Skeletal dysplasia v0.0 ORC4 Zornitza Stark gene: ORC4 was added
gene: ORC4 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: ORC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC4 were set to Meier-Gorlin syndrome 2 613800; Meier-Gorlin syndrome 2 613800
Skeletal dysplasia v0.0 ORC1 Zornitza Stark gene: ORC1 was added
gene: ORC1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC1 were set to Meier-Gorlin syndrome 1 224690; Meier-Gorlin syndrome 1 224690
Skeletal dysplasia v0.0 OFD1 Zornitza Stark gene: OFD1 was added
gene: OFD1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: OFD1 were set to Orofaciodigital syndrome I 311200 XLD; Simpson-Golabi-Behmel syndrome, type 2 300209 XLR; Joubert syndrome 10 300804
Skeletal dysplasia v0.0 OBSL1 Zornitza Stark gene: OBSL1 was added
gene: OBSL1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OBSL1 were set to 3-M syndrome 2 612921
Skeletal dysplasia v0.0 NSDHL Zornitza Stark gene: NSDHL was added
gene: NSDHL was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NSDHL were set to CK syndrome 300831; Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050
Skeletal dysplasia v0.0 NSD1 Zornitza Stark gene: NSD1 was added
gene: NSD1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NSD1 were set to Sotos syndrome 1 117550
Skeletal dysplasia v0.0 NPR2 Zornitza Stark gene: NPR2 was added
gene: NPR2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NPR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: NPR2 were set to Short stature with nonspecific skeletal abnormalities 616255; Epiphyseal chondrodysplasia, Miura type 615923; Acromesomelic dysplasia, Maroteaux type 602875
Skeletal dysplasia v0.0 NOTCH2 Zornitza Stark gene: NOTCH2 was added
gene: NOTCH2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOTCH2 were set to Alagille syndrome 2 610205; Hajdu-Cheney (Serpentine fibula polycystic kidney) syndrome 102500
Skeletal dysplasia v0.0 NOTCH1 Zornitza Stark gene: NOTCH1 was added
gene: NOTCH1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review,Expert Review Green
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NOTCH1 were set to 27077170; 25963545; 25132448
Phenotypes for gene: NOTCH1 were set to Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly); Limb, scalp and skull defects; Adams-Oliver syndrome 5, 616028; AOS
Skeletal dysplasia v0.0 NOG Zornitza Stark gene: NOG was added
gene: NOG was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: NOG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOG were set to Tarsal-carpal coalition syndrome 186570; Stapes ankylosis with broad thumb and toes 184460; Brachydactyly, type B2 611377; Symphalangism, proximal, 1A 185800; Multiple synostoses syndrome 1 186500
Skeletal dysplasia v0.0 NLRP3 Zornitza Stark gene: NLRP3 was added
gene: NLRP3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NLRP3 were set to Chronic infantile neurologic cutaneous articular syndrome (CINA) - 607115; CINCA (Infantile-onset multisystem inflammatory disease) 607115
Skeletal dysplasia v0.0 NKX3-2 Zornitza Stark gene: NKX3-2 was added
gene: NKX3-2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: NKX3-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX3-2 were set to Spondylo-megaepiphyseal-metaphyseal dysplasia 613330
Skeletal dysplasia v0.0 NIPBL Zornitza Stark gene: NIPBL was added
gene: NIPBL was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NIPBL were set to 29379197; 29440723
Phenotypes for gene: NIPBL were set to Cornelia de Lange syndrome 1 122470
Skeletal dysplasia v0.0 NFIX Zornitza Stark gene: NFIX was added
gene: NFIX was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: NFIX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NFIX were set to Marshall-Smith syndrome 602535; Sotos syndrome 2 614753
Skeletal dysplasia v0.0 NF1 Zornitza Stark gene: NF1 was added
gene: NF1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NF1 were set to Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis, type 1 162200; Neurofibromatosis, type 1 162200; Neurofibromatosis, familial spinal 162210; Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis, familial spinal 162210
Skeletal dysplasia v0.0 NEU1 Zornitza Stark gene: NEU1 was added
gene: NEU1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEU1 were set to Sialidosis, type I 256550; Sialidosis, type II 256550
Skeletal dysplasia v0.0 NEK1 Zornitza Stark gene: NEK1 was added
gene: NEK1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEK1 were set to Short rib thoracic dysplasia 6 with or without polydactyly - 263520; Short rib-polydactyly syndrome, type IIA, 263520; Short Rib Polydactyly Syndrome; SRPS type 2 (Majewski)
Skeletal dysplasia v0.0 NBAS Zornitza Stark gene: NBAS was added
gene: NBAS was added to Skeletal dysplasia. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBAS were set to 27789416
Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800
Skeletal dysplasia v0.0 NANS Zornitza Stark gene: NANS was added
gene: NANS was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green
Mode of inheritance for gene: NANS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NANS were set to 27213289
Phenotypes for gene: NANS were set to Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442
Skeletal dysplasia v0.0 NAGLU Zornitza Stark gene: NAGLU was added
gene: NAGLU was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920
Skeletal dysplasia v0.0 MYCN Zornitza Stark gene: MYCN was added
gene: MYCN was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYCN were set to Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280
Skeletal dysplasia v0.0 MSX2 Zornitza Stark gene: MSX2 was added
gene: MSX2 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: MSX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MSX2 were set to Parietal foramina 1 168500; Parietal foramina with cleidocranial dysplasia 168550; Craniosynostosis, type 2 604757
Skeletal dysplasia v0.0 MPDU1 Zornitza Stark gene: MPDU1 was added
gene: MPDU1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPDU1 were set to Congenital disorder of glycosylation, type If 609180
Skeletal dysplasia v0.0 MNX1 Zornitza Stark gene: MNX1 was added
gene: MNX1 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: MNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MNX1 were set to Currarino syndrome 176450
Skeletal dysplasia v0.0 MMP2 Zornitza Stark gene: MMP2 was added
gene: MMP2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: MMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMP2 were set to Multicentric osteolysis, nodulosis, and arthropathy 259600
Skeletal dysplasia v0.0 MMP13 Zornitza Stark gene: MMP13 was added
gene: MMP13 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: MMP13 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MMP13 were set to 24648384
Phenotypes for gene: MMP13 were set to Spondyloepimetaphyseal dysplasia, Missouri type 602111; Metaphyseal dysplasia, Spahr type - 250400; Metaphyseal anadysplasia 1 602111
Skeletal dysplasia v0.0 MKS1 Zornitza Stark gene: MKS1 was added
gene: MKS1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKS1 were set to Meckel syndrome 1 249000; Bardet-Biedl syndrome 13 615990
Skeletal dysplasia v0.0 MKKS Zornitza Stark gene: MKKS was added
gene: MKKS was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKKS were set to Bardet-Biedl syndrome 6, 605231; Polydactyly; McKusick-Kaufman syndrome, 236700
Skeletal dysplasia v0.0 MGP Zornitza Stark gene: MGP was added
gene: MGP was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGP were set to Keutel syndrome 245150; Keutel syndrome 245150
Skeletal dysplasia v0.0 MESP2 Zornitza Stark gene: MESP2 was added
gene: MESP2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MESP2 were set to 15122512; 18485326
Phenotypes for gene: MESP2 were set to Spondylocostal dysostosis 2, autosomal recessive 608681
Skeletal dysplasia v0.0 MEOX1 Zornitza Stark gene: MEOX1 was added
gene: MEOX1 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: MEOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEOX1 were set to Klippel-Feil syndrome 2 214300
Skeletal dysplasia v0.0 MEGF8 Zornitza Stark gene: MEGF8 was added
gene: MEGF8 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: MEGF8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEGF8 were set to Carpenter syndrome 2 614976
Skeletal dysplasia v0.0 MATN3 Zornitza Stark gene: MATN3 was added
gene: MATN3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: MATN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MATN3 were set to 16199550; 16287128; 15121775; 30080953; 11479597
Phenotypes for gene: MATN3 were set to MED; Multiple Epiphyseal Dysplasia, Dominant; Disproportionate Short Stature; Spondyloepimetaphyseal dysplasia, 608728; Epiphyseal dysplasia, multiple, 5, 607078; {Osteoarthritis susceptibility 2}, 140600; multiple epiphyseal dysplasia
Skeletal dysplasia v0.0 MASP1 Zornitza Stark gene: MASP1 was added
gene: MASP1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MASP1 were set to 3MC syndrome 1 - 257920
Skeletal dysplasia v0.0 MAP3K7 Zornitza Stark gene: MAP3K7 was added
gene: MAP3K7 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green
Mode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAP3K7 were set to 27426733
Phenotypes for gene: MAP3K7 were set to Frontometaphyseal dysplasia 2, 617137
Mode of pathogenicity for gene: MAP3K7 was set to Other - please provide details in the comments
Skeletal dysplasia v0.0 MAN2B1 Zornitza Stark gene: MAN2B1 was added
gene: MAN2B1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II 248500
Skeletal dysplasia v0.0 MAFB Zornitza Stark gene: MAFB was added
gene: MAFB was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAFB were set to 30430035; 30305815; 2387013
Phenotypes for gene: MAFB were set to Multicentric carpotarsal osteolysis syndrome 166300
Skeletal dysplasia v0.0 LTBP3 Zornitza Stark gene: LTBP3 was added
gene: LTBP3 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green
Mode of inheritance for gene: LTBP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LTBP3 were set to 27068007
Phenotypes for gene: LTBP3 were set to Dental anomalies and short stature 610216; Geleophysic dysplasia 3 617809; Geleophysic dysplasia 3 617809
Skeletal dysplasia v0.0 LRP5 Zornitza Stark gene: LRP5 was added
gene: LRP5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert,Expert Review Green
Mode of inheritance for gene: LRP5 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: LRP5 were set to Exudative vitreoretinopathy 4 601813; Osteoporosis-pseudoglioma syndrome 259770; [Bone mineral density variability 1] 601884; {Osteoporosis} 166710; van Buchem disease, type 2 607636; Osteopetrosis, autosomal dominant 1 607634; Hyperostosis, endosteal 144750; Osteosclerosis 144750
Skeletal dysplasia v0.0 LRP4 Zornitza Stark gene: LRP4 was added
gene: LRP4 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: LRP4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LRP4 were set to Sclerosteosis 2 614305; Cenani-Lenz syndactyly syndrome 212780
Skeletal dysplasia v0.0 LPIN2 Zornitza Stark gene: LPIN2 was added
gene: LPIN2 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LPIN2 were set to 29912021
Phenotypes for gene: LPIN2 were set to Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628
Skeletal dysplasia v0.0 LONP1 Zornitza Stark gene: LONP1 was added
gene: LONP1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LONP1 were set to CODAS (Cerebral, Ocular, Dental, Auricular and Skeletal anomalies) syndrome 600373
Skeletal dysplasia v0.0 LMX1B Zornitza Stark gene: LMX1B was added
gene: LMX1B was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMX1B were set to Nail-patella syndrome 161200; Nail-patella syndrome 161200
Skeletal dysplasia v0.0 LMNA Zornitza Stark gene: LMNA was added
gene: LMNA was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LMNA were set to Emery-Dreifuss muscular dystrophy 2, 181350; Heart-hand syndrome, Slovenian type 610140; Foundation Trust) Mandibuloacral dysplasia 248370; Muscular dystrophy, limb-girdle, type 1B 159001; Malouf syndrome 212112; 616516; Cardiomyopathy, dilated, 1A 115200; Lipodystrophy, familial partial, 2 151660; Emery-Dreifuss muscular dystrophy 3, 616516; Charcot-Marie-Tooth disease, type 2B1 605588; Mandibuloacral dysplasia 248370; Restrictive dermopathy, lethal 275210; Hutchinson-Gilford progeria 176670; Muscular dystrophy, congenital 613205
Skeletal dysplasia v0.0 LMBR1 Zornitza Stark gene: LMBR1 was added
gene: LMBR1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: LMBR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LMBR1 were set to 11090342; 26749485
Phenotypes for gene: LMBR1 were set to Laurin-Sandrow syndrome 135750; Polydactyly, preaxial type II 174500; Triphalangeal thumb, type I 174500; Syndactyly, type IV 186200; Acheiropody 200500; Triphalangeal thumb-polysyndactyly syndrome 174500; Hypoplastic or aplastic tibia with polydactyly 188740
Skeletal dysplasia v0.0 LIFR Zornitza Stark gene: LIFR was added
gene: LIFR was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 601559
Skeletal dysplasia v0.0 LEMD3 Zornitza Stark gene: LEMD3 was added
gene: LEMD3 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: LEMD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LEMD3 were set to Melorheostosis with osteopoikilosis 155950 IC; Osteopoikilosis 166700; Buschke-Ollendorff syndrome 166700
Skeletal dysplasia v0.0 LBR Zornitza Stark gene: LBR was added
gene: LBR was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LBR were set to Pelger-Huet anomaly with mild skeletal anomalies 618019; Greenberg skeletal dysplasia 215140; Pelger-Huet anomaly 169400
Skeletal dysplasia v0.0 KMT2D Zornitza Stark gene: KMT2D was added
gene: KMT2D was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KMT2D were set to Kabuki syndrome 1 - 147920
Skeletal dysplasia v0.0 KIF7 Zornitza Stark gene: KIF7 was added
gene: KIF7 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF7 were set to Hydrolethalus syndrome 2 614120; Acrocallosal syndrome 200990; Joubert syndrome 12 200990; Al-Gazali-Bakalinova syndrome 607131
Skeletal dysplasia v0.0 KIF22 Zornitza Stark gene: KIF22 was added
gene: KIF22 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: KIF22 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIF22 were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546
Skeletal dysplasia v0.0 KIAA0753 Zornitza Stark gene: KIAA0753 was added
gene: KIAA0753 was added to Skeletal dysplasia. Sources: Other,Expert Review Green
Mode of inheritance for gene: KIAA0753 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0753 were set to 28220259; 26643951; 29138412
Phenotypes for gene: KIAA0753 were set to ?Orofaciodigital syndrome XV 617127; Joubert syndrome; Short-rib skeletal dysplasia
Skeletal dysplasia v0.0 KAT6B Zornitza Stark gene: KAT6B was added
gene: KAT6B was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KAT6B were set to SBBYSS syndrome 603736; GTPTS,Ohdo; Genitopatellar syndrome 606170
Skeletal dysplasia v0.0 INPPL1 Zornitza Stark gene: INPPL1 was added
gene: INPPL1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: INPPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPPL1 were set to Opsismodysplasia 258480
Skeletal dysplasia v0.0 IMPAD1 Zornitza Stark gene: IMPAD1 was added
gene: IMPAD1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: IMPAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IMPAD1 were set to Chondrodysplasia with joint dislocations, GPAPP type 614078
Skeletal dysplasia v0.0 IL1RN Zornitza Stark gene: IL1RN was added
gene: IL1RN was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: IL1RN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL1RN were set to Interleukin 1 receptor antagonist deficiency 612852; Interleukin 1 receptor antagonist deficiency 612852
Skeletal dysplasia v0.0 IL11RA Zornitza Stark gene: IL11RA was added
gene: IL11RA was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: IL11RA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL11RA were set to 21741611
Phenotypes for gene: IL11RA were set to Craniosynostosis and dental anomalies 614188
Skeletal dysplasia v0.0 IKBKG Zornitza Stark gene: IKBKG was added
gene: IKBKG was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: IKBKG were set to Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301; Incontinentia pigmenti 308300
Skeletal dysplasia v0.0 IHH Zornitza Stark gene: IHH was added
gene: IHH was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: IHH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: IHH were set to Acrocapitofemoral dysplasia 607778; Brachydactyly, type A1 112500
Skeletal dysplasia v0.0 IFT81 Zornitza Stark gene: IFT81 was added
gene: IFT81 was added to Skeletal dysplasia. Sources: NHS GMS,Other,Expert Review Green
Mode of inheritance for gene: IFT81 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT81 were set to 27666822; 30080953; 28460050; 26275418
Phenotypes for gene: IFT81 were set to Short-rib thoracic dysplasia 19 with or without polydactyly -617895; Short-Rib Polydactyly Syndrome
Skeletal dysplasia v0.0 IFT80 Zornitza Stark gene: IFT80 was added
gene: IFT80 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT80 were set to Short-rib thoracic dysplasia 2 with or without polydactyly 611263
Skeletal dysplasia v0.0 IFT52 Zornitza Stark gene: IFT52 was added
gene: IFT52 was added to Skeletal dysplasia. Sources: NHS GMS,Other,Expert Review Green
Mode of inheritance for gene: IFT52 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT52 were set to 26880018; 30242358; 27466190; 31042281
Phenotypes for gene: IFT52 were set to SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY, SRTD16 #617102
Skeletal dysplasia v0.0 IFT43 Zornitza Stark gene: IFT43 was added
gene: IFT43 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT43 were set to 24027799; 22791528; 28400947; 26892345; 21378380
Phenotypes for gene: IFT43 were set to Short-rib thoracic dysplasia 18 with polydactyly - 617866; ?Cranioectodermal dysplasia 3 - 614099
Skeletal dysplasia v0.0 IFT172 Zornitza Stark gene: IFT172 was added
gene: IFT172 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT172 were set to Short-rib thoracic dysplasia 10 with or without polydactyly, 615630; SRTD10
Skeletal dysplasia v0.0 IFT140 Zornitza Stark gene: IFT140 was added
gene: IFT140 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert Review Green
Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT140 were set to Short-rib thoracic dysplasia 9 with of without polydactyly, 266920
Skeletal dysplasia v0.0 IFT122 Zornitza Stark gene: IFT122 was added
gene: IFT122 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT122 were set to Cranioectodermal dysplasia 1 218330
Skeletal dysplasia v0.0 IFITM5 Zornitza Stark gene: IFITM5 was added
gene: IFITM5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Eligibility statement prior genetic testing
Mode of inheritance for gene: IFITM5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IFITM5 were set to Osteogenesis imperfecta, type V 610967
Skeletal dysplasia v0.0 IFIH1 Zornitza Stark gene: IFIH1 was added
gene: IFIH1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IFIH1 were set to 28319323; 25620204
Phenotypes for gene: IFIH1 were set to Singleton-Merten syndrome 1, 182250
Mode of pathogenicity for gene: IFIH1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Skeletal dysplasia v0.0 IDUA Zornitza Stark gene: IDUA was added
gene: IDUA was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IDUA were set to Mucopolysaccharidosis Is 607016; Mucopolysaccharidosis Ih/s 607015; Mucopolysaccharidosis Ih 607014
Skeletal dysplasia v0.0 IDS Zornitza Stark gene: IDS was added
gene: IDS was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IDS were set to Mucopolysaccharidosis II 309900
Skeletal dysplasia v0.0 IDH1 Zornitza Stark gene: IDH1 was added
gene: IDH1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: IDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IDH1 were set to 22057234; 22025298; 22057236; 24049096
Phenotypes for gene: IDH1 were set to Ollier disease/ Dyschondroplasia 166000; Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875; Maffucci syndrome 614569
Mode of pathogenicity for gene: IDH1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Skeletal dysplasia v0.0 ICK Zornitza Stark gene: ICK was added
gene: ICK was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ICK were set to 19185282; 27069622
Phenotypes for gene: ICK were set to Endocrine-cerebroosteodysplasia 612651
Skeletal dysplasia v0.0 HSPG2 Zornitza Stark gene: HSPG2 was added
gene: HSPG2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPG2 were set to Dyssegmental dysplasia, Silverman-Handmaker type 224410; Schwartz-Jampel syndrome, type 1 255800
Skeletal dysplasia v0.0 HPGD Zornitza Stark gene: HPGD was added
gene: HPGD was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: HPGD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HPGD were set to Digital clubbing, isolated congenital 119900; Cranioosteoarthropathy 259100; Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100
Skeletal dysplasia v0.0 HOXD13 Zornitza Stark gene: HOXD13 was added
gene: HOXD13 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: HOXD13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HOXD13 were set to 17236141; 12649808; 9758628
Phenotypes for gene: HOXD13 were set to Brachydactyly, type E 113300; Brachydactyly, type D 113200; Syndactyly, type V 186300; Synpolydactyly 1 186000; Brachydactyly-syndactyly syndrome 610713
Skeletal dysplasia v0.0 HOXA13 Zornitza Stark gene: HOXA13 was added
gene: HOXA13 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: HOXA13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HOXA13 were set to Guttmacher syndrome 176305; Hand-foot-uterus syndrome 140000; Hand-foot-genital syndrome 140000
Skeletal dysplasia v0.0 HGSNAT Zornitza Stark gene: HGSNAT was added
gene: HGSNAT was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930
Skeletal dysplasia v0.0 HES7 Zornitza Stark gene: HES7 was added
gene: HES7 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: HES7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HES7 were set to Spondylocostal dysostosis 4, autosomal recessive 613686
Skeletal dysplasia v0.0 HDAC8 Zornitza Stark gene: HDAC8 was added
gene: HDAC8 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: HDAC8 were set to Cornelia de Lange syndrome 5 300882; Wilson-Turner syndrome 309585
Skeletal dysplasia v0.0 GUSB Zornitza Stark gene: GUSB was added
gene: GUSB was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUSB were set to Mucopolysaccharidosis VII 253220
Skeletal dysplasia v0.0 GSC Zornitza Stark gene: GSC was added
gene: GSC was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: GSC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GSC were set to Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471; Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471
Skeletal dysplasia v0.0 GPC6 Zornitza Stark gene: GPC6 was added
gene: GPC6 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPC6 were set to Omodysplasia 1 258315
Skeletal dysplasia v0.0 GORAB Zornitza Stark gene: GORAB was added
gene: GORAB was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum 231070
Skeletal dysplasia v0.0 GNS Zornitza Stark gene: GNS was added
gene: GNS was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNS were set to Mucopolysaccharidosis type IIID 252940
Skeletal dysplasia v0.0 GNPTG Zornitza Stark gene: GNPTG was added
gene: GNPTG was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTG were set to Mucolipidosis III gamma 252605
Skeletal dysplasia v0.0 GNPTAB Zornitza Stark gene: GNPTAB was added
gene: GNPTAB was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTAB were set to Mucolipidosis III alpha/beta 252600; Mucolipidosis II alpha/beta 252500
Skeletal dysplasia v0.0 GNPAT Zornitza Stark gene: GNPAT was added
gene: GNPAT was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert Review Green
Mode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPAT were set to RCDP2; Rhizomelic Chondrodysplasia Punctata; Rhizomelic chondrodysplasia punctata type 2; Chondrodysplasia punctata, rhizomelic, type 2, 222765
Skeletal dysplasia v0.0 GNAS Zornitza Stark gene: GNAS was added
gene: GNAS was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes for gene: GNAS were set to Pseudohypoparathyroidism Ia 103580; ACTH-independent macronodular adrenal hyperplasia 219080 IC; Pseudohypoparathyroidism Ib 603233; Pseudopseudohypoparathyroidism 612463; McCune-Albright syndrome, somatic, mosaic 174800; Pseudohypoparathyroidism Ic 612462; Osseous heteroplasia, progressive 166350
Skeletal dysplasia v0.0 GLI3 Zornitza Stark gene: GLI3 was added
gene: GLI3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GLI3 were set to {Hypothalamic hamartomas, somatic} 241800; Polydactyly, postaxial, types A1 and B 174200; Greig cephalopolysyndactyly syndrome 175700; Pallister-Hall syndrome 146510; Polydactyly, preaxial, type IV 174700
Skeletal dysplasia v0.0 GLB1 Zornitza Stark gene: GLB1 was added
gene: GLB1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLB1 were set to GM1-gangliosidosis, type II 230600; GM1-gangliosidosis, type III 230650; Mucopolysaccharidosis type IVB (Morquio) 253010; GM1-gangliosidosis, type I 230500
Skeletal dysplasia v0.0 GJA1 Zornitza Stark gene: GJA1 was added
gene: GJA1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJA1 were set to Oculodentodigital dysplasia 164200; Erythrokeratodermia variabilis et progressiva 133200; Palmoplantar keratoderma with congenital alopecia 104100; Hypoplastic left heart syndrome 1 241550; Oculodentodigital dysplasia, autosomal recessive 257850; Craniometaphyseal dysplasia, autosomal recessive 218400; Syndactyly, type III 186100
Skeletal dysplasia v0.0 GHR Zornitza Stark gene: GHR was added
gene: GHR was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: GHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GHR were set to increased responsiveness to growth hormone 604271; {Hypercholesterolemia, familial, modification of}, 143890; Short stature, 604271; Proportionate Short Stature/Small for Gestational Age; Growth hormone insensitivity; Increased responsiveness to growth hormone; Laron dwarfism, 262500
Skeletal dysplasia v0.0 GDF6 Zornitza Stark gene: GDF6 was added
gene: GDF6 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GDF6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GDF6 were set to 18425797
Phenotypes for gene: GDF6 were set to Klippel-Feil syndrome 1, autosomal dominant 118100; Multiple synostoses syndrome type 4 - 617898.
Skeletal dysplasia v0.0 GDF5 Zornitza Stark gene: GDF5 was added
gene: GDF5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GDF5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GDF5 were set to Chondrodysplasia, Grebe type 200700; Multiple synostoses syndrome 2 610017; Du Pan syndrome 228900; Acromesomelic dysplasia, Hunter-Thompson type 201250; Brachydactyly, type C 113100; Brachydactyly, type A1, C 615072; Symphalangism, proximal, 1B 615298; {Osteoarthritis-5} 612400; Brachydactyly, type A2 112600
Skeletal dysplasia v0.0 GALNT3 Zornitza Stark gene: GALNT3 was added
gene: GALNT3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNT3 were set to Tumoral calcinosis, hyperphosphatemic, familial I 211900; Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome 211900
Skeletal dysplasia v0.0 GALNS Zornitza Stark gene: GALNS was added
gene: GALNS was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA 253000
Skeletal dysplasia v0.0 FZD2 Zornitza Stark gene: FZD2 was added
gene: FZD2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FZD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FZD2 were set to 25759469; 29383834; 29383830; 29230162; 30455931
Phenotypes for gene: FZD2 were set to Autosomal dominant omodysplasia type 2 164745; Autosomal dominant omodysplasia 164745
Skeletal dysplasia v0.0 FUCA1 Zornitza Stark gene: FUCA1 was added
gene: FUCA1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FUCA1 were set to Fucosidosis 230000
Skeletal dysplasia v0.0 FN1 Zornitza Stark gene: FN1 was added
gene: FN1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FN1 were set to 29100092; 30599297
Phenotypes for gene: FN1 were set to Spondylometaphyseal dysplasia, corner fracture type 184255
Mode of pathogenicity for gene: FN1 was set to Other
Skeletal dysplasia v0.0 FLNB Zornitza Stark gene: FLNB was added
gene: FLNB was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FLNB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FLNB were set to Atelosteogenesis, type I 108720; Spondylocarpotarsal synostosis syndrome 272460; Larsen syndrome 150250; Boomerang dysplasia 112310; Atelosteogenesis, type III 108721
Skeletal dysplasia v0.0 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FLNA were set to Frontometaphyseal dysplasia 305620; Otopalatodigital syndrome, type II -304120; Osteodysplasty Melnick Needles 309350 XLD; Melnick Needles syndrome 309350; Otopalatodigital syndrome, type II 304120 XLD; Frontometaphyseal dysplasia 305620 XLR; Terminal osseous dysplasia 300244; Otopalatodigital syndrome, type I -311300
Skeletal dysplasia v0.0 FKBP10 Zornitza Stark gene: FKBP10 was added
gene: FKBP10 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKBP10 were set to Osteogenesis imperfecta, type XI, 610968; Brucks syndrome 1 - 259450; Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias; Osteogenesis Imperfecta, Recessive; Brucks syndrome
Skeletal dysplasia v0.0 FIG4 Zornitza Stark gene: FIG4 was added
gene: FIG4 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FIG4 were set to Yunis-Varon syndrome 216340; Yunis-Varon syndrome 216340; Amyotrophic lateral sclerosis 11 612577
Skeletal dysplasia v0.0 FGFR3 Zornitza Stark gene: FGFR3 was added
gene: FGFR3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FGFR3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FGFR3 were set to Crouzon syndrome with acanthosis nigricans 612247; Thanatophoric dysplasia, type II 187601; Thanatophoric dysplasia, type I 187600; SADDAN 616482; LADD syndrome 149730; Achondroplasia 100800; Hypochondroplasia 146000; Muenke syndrome 602849; CATSHL syndrome 610474
Skeletal dysplasia v0.0 FGFR2 Zornitza Stark gene: FGFR2 was added
gene: FGFR2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FGFR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FGFR2 were set to Craniosynostosis, nonspecific Crouzon syndrome 123500; Pfeiffer syndrome 101600; Beare-Stevenson cutis gyrata syndrome 123790; Apert syndrome 101200; Gastric cancer, somatic 613659; Craniofacial-skeletal-dermatologic dysplasia 101600; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Bent bone dysplasia syndrome 614592; Jackson-Weiss syndrome 123150; LADD syndrome 149730
Skeletal dysplasia v0.0 FGFR1 Zornitza Stark gene: FGFR1 was added
gene: FGFR1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR1 were set to Hypogonadotropic hypogonadism 2 with or without anosmia 147950; Hartsfield syndrome 615465; Osteoglophonic dysplasia 166250; Pfeiffer syndrome 101600; Encephalocraniocutaneous lipomatosis, somatic mosaism 613001; Jackson-Weiss syndrome 123150; Trigonocephaly 1 190440
Skeletal dysplasia v0.0 FGF23 Zornitza Stark gene: FGF23 was added
gene: FGF23 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FGF23 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGF23 were set to Osteomalacia, tumor-induced; Tumoral calcinosis, hyperphosphatemic, familial 211900; Hypophosphatemic rickets, autosomal dominant 193100
Skeletal dysplasia v0.0 FGF16 Zornitza Stark gene: FGF16 was added
gene: FGF16 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: FGF16 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FGF16 were set to Metacarpal 4-5 fusion 309630; Metacarpal 4-5 fusion 309630
Skeletal dysplasia v0.0 FGF10 Zornitza Stark gene: FGF10 was added
gene: FGF10 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FGF10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGF10 were set to LADD syndrome 149730
Skeletal dysplasia v0.0 FERMT3 Zornitza Stark gene: FERMT3 was added
gene: FERMT3 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FERMT3 were set to 18709451
Phenotypes for gene: FERMT3 were set to (Moderate osteopetrosis) Kilic SS et al. The clinical spectrum of leukocyte adhesion deficiency (LAD) III due to defective CalDAG-GEF1. J Clin Immunol. 2009 Jan, 29(1):117-22.; Leukocyte adhesion deficiency, type III 612840
Skeletal dysplasia v0.0 FBN2 Zornitza Stark gene: FBN2 was added
gene: FBN2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FBN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBN2 were set to Contractural arachnodactyly, congenital 121050
Skeletal dysplasia v0.0 FBN1 Zornitza Stark gene: FBN1 was added
gene: FBN1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBN1 were set to Stiff skin syndrome 184900; Marfan syndrome 154700; Geleophysic dysplasia 2 614185; Weill-Marchesani syndrome 2, dominant 608328; Acromicric dysplasia 102370
Skeletal dysplasia v0.0 FAM58A Zornitza Stark gene: FAM58A was added
gene: FAM58A was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FAM58A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FAM58A were set to STAR syndrome 300707; STAR syndrome 300707
Skeletal dysplasia v0.0 FAM46A Zornitza Stark gene: FAM46A was added
gene: FAM46A was added to Skeletal dysplasia. Sources: Other,Expert Review Green
Mode of inheritance for gene: FAM46A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM46A were set to 29358272
Phenotypes for gene: FAM46A were set to Osteogenesis imperfecta, type XVIII 617952
Skeletal dysplasia v0.0 FAM20C Zornitza Stark gene: FAM20C was added
gene: FAM20C was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM20C were set to Raine syndrome 259775
Skeletal dysplasia v0.0 FAM111A Zornitza Stark gene: FAM111A was added
gene: FAM111A was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FAM111A were set to Gracile bone dysplasia 602361; Kenny-Caffey syndrome, type 2 127000
Skeletal dysplasia v0.0 EZH2 Zornitza Stark gene: EZH2 was added
gene: EZH2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EZH2 were set to Weaver syndrome
Skeletal dysplasia v0.0 EXTL3 Zornitza Stark gene: EXTL3 was added
gene: EXTL3 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green
Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXTL3 were set to 28132690; 28148688
Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425; Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425
Skeletal dysplasia v0.0 EXT2 Zornitza Stark gene: EXT2 was added
gene: EXT2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EXT2 were set to Exostoses, multiple, type 2 133701
Skeletal dysplasia v0.0 EXT1 Zornitza Stark gene: EXT1 was added
gene: EXT1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EXT1 were set to trichorhinophalangeal syndrome type 2 -150230; Exostoses, multiple, type 13370; Exostoses, multiple, type 1 133700
Skeletal dysplasia v0.0 EVC2 Zornitza Stark gene: EVC2 was added
gene: EVC2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome 225500; Weyers acrofacial dysostosis 193530
Skeletal dysplasia v0.0 EVC Zornitza Stark gene: EVC was added
gene: EVC was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC were set to Ellis-van Creveld syndrome, 225500; ECV1; Ellis-van Creveld Syndrome; Ellis-van Creveld syndrome, 225500Weyers acrodental dysostosis, 193530
Skeletal dysplasia v0.0 ESCO2 Zornitza Stark gene: ESCO2 was added
gene: ESCO2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESCO2 were set to SC phocomelia syndrome 269000; Roberts syndrome 268300
Skeletal dysplasia v0.0 ERF Zornitza Stark gene: ERF was added
gene: ERF was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: ERF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ERF were set to 23354439; 26097063
Phenotypes for gene: ERF were set to Craniosynostosis 4 600775; Chitayat syndrome - 617180
Skeletal dysplasia v0.0 EOGT Zornitza Stark gene: EOGT was added
gene: EOGT was added to Skeletal dysplasia. Sources: UKGTN,NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EOGT were set to Adams Oliver syndrome 4
Skeletal dysplasia v0.0 ENPP1 Zornitza Stark gene: ENPP1 was added
gene: ENPP1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ENPP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ENPP1 were set to Cole disease 615522; Arterial calcification, generalized, of infancy, 1 208000; Hypophosphatemic rickets, autosomal recessive, 2 613312
Skeletal dysplasia v0.0 EIF2AK3 Zornitza Stark gene: EIF2AK3 was added
gene: EIF2AK3 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome 226980; Wolcott-Rallison syndrome 226980
Skeletal dysplasia v0.0 EFTUD2 Zornitza Stark gene: EFTUD2 was added
gene: EFTUD2 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EFTUD2 were set to 16760738; 22305528; 19334086
Phenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis, Guion-Almeida type 610536
Skeletal dysplasia v0.0 EED Zornitza Stark gene: EED was added
gene: EED was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green
Mode of inheritance for gene: EED was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EED were set to 27868325; 25787343; 28229514; 27193220
Phenotypes for gene: EED were set to Cohen-Gibson syndrome 617561; Cohen-Gibson syndrome 617561
Skeletal dysplasia v0.0 EBP Zornitza Stark gene: EBP was added
gene: EBP was added to Skeletal dysplasia. Sources: UKGTN,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: EBP were set to MEND syndrome; CDPXLD; MEND syndrome-300960 XLR.; X-linked dominant chondrodysplasia punctata; Chondrodysplasia punctata, X-linked dominant, 302960
Skeletal dysplasia v0.0 DYNC2LI1 Zornitza Stark gene: DYNC2LI1 was added
gene: DYNC2LI1 was added to Skeletal dysplasia. Sources: NHS GMS,Other,Expert Review Green
Mode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2LI1 were set to SRTD15 #617088; SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
Skeletal dysplasia v0.0 DYNC2H1 Zornitza Stark gene: DYNC2H1 was added
gene: DYNC2H1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC2H1 were set to 21211617
Phenotypes for gene: DYNC2H1 were set to Short rib polydactyly syndrome (SRPS) type 3 with or without polydactyly, 613091; Asphyxiating thoracic dystrophy 3, 613091Short rib-polydactyly syndrome, type III, 263510Short rib-polydactyly syndrome, type IIB, 615087; Short rib polydactyly syndrome (SRPS) type 1/3 (Saldino-Noonan/Verma-Naumoff)
Skeletal dysplasia v0.0 DYM Zornitza Stark gene: DYM was added
gene: DYM was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: DYM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYM were set to Smith-McCort dysplasia 607326; Dyggve-Melchior-Clausen disease 223800
Skeletal dysplasia v0.0 DVL3 Zornitza Stark gene: DVL3 was added
gene: DVL3 was added to Skeletal dysplasia. Sources: NHS GMS,Other,Expert Review Green
Mode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DVL3 were set to 26924530
Phenotypes for gene: DVL3 were set to Robinow syndrome, autosomal dominant 3, 616894
Skeletal dysplasia v0.0 DVL1 Zornitza Stark gene: DVL1 was added
gene: DVL1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: DVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DVL1 were set to 25817014; 25817016
Phenotypes for gene: DVL1 were set to Robinow syndrome, autosomal dominant 2 616331; Robinow syndrome, autosomal dominant 2 616331
Skeletal dysplasia v0.0 DSPP Zornitza Stark gene: DSPP was added
gene: DSPP was added to Skeletal dysplasia. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: DSPP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DSPP were set to 27973701; 29512331
Phenotypes for gene: DSPP were set to Dentin dysplasia, type II, 125420 -3; Dentinogenesis imperfecta, Shields type III, 125500; Dentinogenesis imperfecta, Shields type II, 125490; Deafness, autosomal dominant 36, with dentinogenesis, 605594
Skeletal dysplasia v0.0 DPM1 Zornitza Stark gene: DPM1 was added
gene: DPM1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPM1 were set to 23856421; 15669674; 10642602
Phenotypes for gene: DPM1 were set to Congenital disorder of glycosylation, type Ie 608799
Skeletal dysplasia v0.0 DPAGT1 Zornitza Stark gene: DPAGT1 was added
gene: DPAGT1 was added to Skeletal dysplasia. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPAGT1 were set to 12872255; 22304930; 30653653
Phenotypes for gene: DPAGT1 were set to Myasthenic syndrome, congenital, 13, with tubular aggregates 614750; UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ij 608093
Skeletal dysplasia v0.0 DOCK6 Zornitza Stark gene: DOCK6 was added
gene: DOCK6 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK6 were set to Adams-Oliver syndrome 2 614219; Adams-Oliver syndrome 2 614219
Skeletal dysplasia v0.0 DNMT3A Zornitza Stark gene: DNMT3A was added
gene: DNMT3A was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DNMT3A were set to Tatton-Brown-Rahman syndrome 615879
Skeletal dysplasia v0.0 DMP1 Zornitza Stark gene: DMP1 was added
gene: DMP1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Expert
Mode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DMP1 were set to Acromesomelic dysplasia, Hunter-Thompson type, 201250; Symphalangism, proximal, 1B, 615298; Hypophosphatemic rickets,autosomal recessive,type 1 (ARHR1); Brachydactyly, type A1, C, 615072; Brachydactyly, type A2, 112600; Du Pan syndrome, 228900; Hypophosphatemic rickets, AR, 241520; Osteogenesis Imperfecta and Decreased Bone Density; Chondrodysplasia, Grebe type, 200700; skeletal dysplasias; Brachydactyly, type C, 113100; {Osteoarthritis-5}, 612400; Multiple synostoses syndrome 2, 610017
Skeletal dysplasia v0.0 DLX5 Zornitza Stark gene: DLX5 was added
gene: DLX5 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: DLX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLX5 were set to 27085093
Phenotypes for gene: DLX5 were set to Split-hand/foot malformation 1 with sensorineural hearing loss 220600
Skeletal dysplasia v0.0 DLX3 Zornitza Stark gene: DLX3 was added
gene: DLX3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: DLX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLX3 were set to 26762616; 26104267
Phenotypes for gene: DLX3 were set to Trichodontoosseous syndrome 190320; Amelogenesis imperfecta, type IV 104510
Skeletal dysplasia v0.0 DLL4 Zornitza Stark gene: DLL4 was added
gene: DLL4 was added to Skeletal dysplasia. Sources: NHS GMS,Other,Expert Review Green
Mode of inheritance for gene: DLL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLL4 were set to 26299364
Phenotypes for gene: DLL4 were set to Adams-Oliver syndrome 6, 616589
Skeletal dysplasia v0.0 DLL3 Zornitza Stark gene: DLL3 was added
gene: DLL3 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLL3 were set to Spondylocostal dysostosis 1, autosomal recessive 277300
Skeletal dysplasia v0.0 DIS3L2 Zornitza Stark gene: DIS3L2 was added
gene: DIS3L2 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DIS3L2 were set to 22306653
Phenotypes for gene: DIS3L2 were set to Perlman syndrome 267000
Skeletal dysplasia v0.0 DHODH Zornitza Stark gene: DHODH was added
gene: DHODH was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHODH were set to Miller syndrome (postaxial acrofacial dysostosis) 263750
Skeletal dysplasia v0.0 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Skeletal dysplasia. Sources: Other,Expert Review Green
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to 9634533
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome 270400
Skeletal dysplasia v0.0 DHCR24 Zornitza Stark gene: DHCR24 was added
gene: DHCR24 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR24 were set to Desmosterolosis 602398
Skeletal dysplasia v0.0 DDR2 Zornitza Stark gene: DDR2 was added
gene: DDR2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDR2 were set to Spondylometaepiphyseal dysplasia, short limb-hand type 271665; Spondylometaepiphyseal dysplasia, short limb-hand type 271665, at least 3 cases reported
Skeletal dysplasia v0.0 CYP2R1 Zornitza Stark gene: CYP2R1 was added
gene: CYP2R1 was added to Skeletal dysplasia. Sources: Other,Expert Review Green
Mode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2R1 were set to 22855339; 15128933; 28548312; 25942481
Phenotypes for gene: CYP2R1 were set to Rickets due to defect in vitamin D 25-hydroxylation, 600081
Skeletal dysplasia v0.0 CYP27B1 Zornitza Stark gene: CYP27B1 was added
gene: CYP27B1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27B1 were set to Vitamin D-dependent rickets, type I 264700
Skeletal dysplasia v0.0 CUL7 Zornitza Stark gene: CUL7 was added
gene: CUL7 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CUL7 were set to 3-M syndrome 1 273750
Skeletal dysplasia v0.0 CTSK Zornitza Stark gene: CTSK was added
gene: CTSK was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSK were set to 28328823
Phenotypes for gene: CTSK were set to Pycnodysostosis 265800
Skeletal dysplasia v0.0 CTSC Zornitza Stark gene: CTSC was added
gene: CTSC was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSC were set to 26205983; 15727652; 24966751
Phenotypes for gene: CTSC were set to Haim-Munk syndrome 245010,; Haim-Munk syndrome 245010
Skeletal dysplasia v0.0 CTSA Zornitza Stark gene: CTSA was added
gene: CTSA was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSA were set to Galactosialidosis 256540
Skeletal dysplasia v0.0 CSPP1 Zornitza Stark gene: CSPP1 was added
gene: CSPP1 was added to Skeletal dysplasia. Sources: NHS GMS,Other,Expert Review Green
Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSPP1 were set to 24360803; 24360808
Phenotypes for gene: CSPP1 were set to ORPHA:475 Joubert syndrome; Joubert syndrome 21 615636; ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome 21 615636; ORPHA:564 Meckel syndrome
Skeletal dysplasia v0.0 CRTAP Zornitza Stark gene: CRTAP was added
gene: CRTAP was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII 610682
Skeletal dysplasia v0.0 CREBBP Zornitza Stark gene: CREBBP was added
gene: CREBBP was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome 180849; Rubinstein-Taybi syndrome 180849
Skeletal dysplasia v0.0 CREB3L1 Zornitza Stark gene: CREB3L1 was added
gene: CREB3L1 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review,Expert Review Green
Mode of inheritance for gene: CREB3L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CREB3L1 were set to 25007323; 28817112; 29936144.; 30657919
Phenotypes for gene: CREB3L1 were set to Osteogenesis imperfecta, type XVI 616229
Skeletal dysplasia v0.0 COMP Zornitza Stark gene: COMP was added
gene: COMP was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Eligibility statement prior genetic testing,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: COMP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COMP were set to Epiphyseal dysplasia, multiple, 1 132400; Pseudoachondroplasia 177170
Skeletal dysplasia v0.0 COLEC11 Zornitza Stark gene: COLEC11 was added
gene: COLEC11 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COLEC11 were set to 28301481; 8933348; 21258343; 2569826
Phenotypes for gene: COLEC11 were set to 3MC syndrome 2 265050
Skeletal dysplasia v0.0 COL9A3 Zornitza Stark gene: COL9A3 was added
gene: COL9A3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Expert Review,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL9A3 were set to MED; Mutiple Epiphyseal Dysplasia; Multiple Epiphyseal Dysplasia, Dominant; Epiphyseal dysplasia, multiple, with myopathy; Stickler syndrome type VI; multiple epiphyseal dysplasia; multiple epiphyseal dysplasia 3, with or without myopathy - 600969
Skeletal dysplasia v0.0 COL9A2 Zornitza Stark gene: COL9A2 was added
gene: COL9A2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: COL9A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL9A2 were set to Stickler syndrome, type V, 614284; Epiphyseal dysplasia, multiple, 2 600204; Stickler syndrome, type V 614284; {Intervertebral disc disease, susceptibility to}, 603932
Skeletal dysplasia v0.0 COL9A1 Zornitza Stark gene: COL9A1 was added
gene: COL9A1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: COL9A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL9A1 were set to Stickler syndrome, type IV 614134; Epiphyseal dysplasia, multiple, 6 614135
Skeletal dysplasia v0.0 COL2A1 Zornitza Stark gene: COL2A1 was added
gene: COL2A1 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: COL2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL2A1 were set to Osteoarthritis with mild chondrodysplasia 604864; Czech dysplasia 609162; SMED Strudwick type 184250; Spondyloepiphyseal dysplasia, Stanescu type 616583; Epiphyseal dysplasia, multiple, with myopia and deafness 132450; SED congenita 183900; Otospondylomegaepiphyseal dysplasia 215150; Stickler syndrome, type I 108300; Stickler sydrome, type I, nonsyndromic ocular 609508; Kniest dysplasia 156550; Platyspondylic skeletal dysplasia, Torrance type 151210; Spondyloperipheral dysplasia 271700; Achondrogenesis, type II or hypochondrogenesis 200610; Legg-Calve-Perthes disease 150600; Avascular necrosis of the femoral head 608805
Skeletal dysplasia v0.0 COL1A2 Zornitza Stark gene: COL1A2 was added
gene: COL1A2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,UKGTN,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: COL1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL1A2 were set to Osteogenesis imperfecta, type III 259420; Osteogenesis imperfecta, type IV 166220; Ehlers-Danlos syndrome, type VIIB 130060; Ehlers-Danlos syndrome, cardiac valvular form 225320; Osteogenesis imperfecta, type II 166210
Skeletal dysplasia v0.0 COL1A1 Zornitza Stark gene: COL1A1 was added
gene: COL1A1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,UKGTN,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL1A1 were set to Ehlers-Danlos syndrome, type VIIA 130060; Osteogenesis imperfecta, type III 259420; Osteogenesis imperfecta, type I 166200; Osteogenesis imperfecta, type IV 166220; Ehlers-Danlos syndrome, classic 130000; Caffey disease 114000; Osteogenesis imperfecta, type II 166210
Skeletal dysplasia v0.0 COL11A2 Zornitza Stark gene: COL11A2 was added
gene: COL11A2 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: COL11A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL11A2 were set to Fibrochondrogenesis 2 614524?; Otospondylomegaepiphyseal dysplasia 215150; Fibrochondrogenesis 2 614524; Weissenbacher-Zweymuller syndrome 277610; Stickler syndrome, type III 184840
Skeletal dysplasia v0.0 COL11A1 Zornitza Stark gene: COL11A1 was added
gene: COL11A1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Eligibility statement prior genetic testing
Mode of inheritance for gene: COL11A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL11A1 were set to Stickler syndrome, type II 604841; Fibrochondrogenesis 1 228520; Marshall syndrome 154780
Skeletal dysplasia v0.0 COL10A1 Zornitza Stark gene: COL10A1 was added
gene: COL10A1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: COL10A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL10A1 were set to Metaphyseal chondrodysplasia, Schmid type 156500
Skeletal dysplasia v0.0 COG1 Zornitza Stark gene: COG1 was added
gene: COG1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: COG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG1 were set to 19008299; 16537452
Phenotypes for gene: COG1 were set to Congenital disorder of glycosylation, type IIg 611209
Skeletal dysplasia v0.0 CLCN7 Zornitza Stark gene: CLCN7 was added
gene: CLCN7 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CLCN7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CLCN7 were set to Osteopetrosis, autosomal recessive 4 611490; Osteopetrosis, autosomal dominant 2 166600
Skeletal dysplasia v0.0 CLCN5 Zornitza Stark gene: CLCN5 was added
gene: CLCN5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CLCN5 were set to Nephrolithiasis, type I 310468; Dent disease 300009; Hypophosphatemic rickets 300554; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990
Skeletal dysplasia v0.0 CHSY1 Zornitza Stark gene: CHSY1 was added
gene: CHSY1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome 605282
Skeletal dysplasia v0.0 CHST3 Zornitza Stark gene: CHST3 was added
gene: CHST3 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert Review Green
Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHST3 were set to Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) 143095
Skeletal dysplasia v0.0 CHST14 Zornitza Stark gene: CHST14 was added
gene: CHST14 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1 601776
Skeletal dysplasia v0.0 CEP290 Zornitza Stark gene: CEP290 was added
gene: CEP290 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to Bardet-Biedl syndrome 14 615991; Leber congenital amaurosis 10; Joubert syndrome 5 610188; Meckel syndrome 4 611134; Senior-Loken syndrome 6 610189
Skeletal dysplasia v0.0 CEP120 Zornitza Stark gene: CEP120 was added
gene: CEP120 was added to Skeletal dysplasia. Sources: UKGTN,NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP120 were set to 27208211
Phenotypes for gene: CEP120 were set to Joubert syndrome 213300; Short-rib thoracic dysplasia 13 with or without polydactyly 616300
Skeletal dysplasia v0.0 CDT1 Zornitza Stark gene: CDT1 was added
gene: CDT1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDT1 were set to Meier-Gorlin syndrome 4 613804
Skeletal dysplasia v0.0 CDKN1C Zornitza Stark gene: CDKN1C was added
gene: CDKN1C was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes for gene: CDKN1C were set to IMAGE syndrome 614732
Skeletal dysplasia v0.0 CDH3 Zornitza Stark gene: CDH3 was added
gene: CDH3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDH3 were set to 22140374; 15805154
Phenotypes for gene: CDH3 were set to Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280
Skeletal dysplasia v0.0 CDC45 Zornitza Stark gene: CDC45 was added
gene: CDC45 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: CDC45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDC45 were set to 27374770
Phenotypes for gene: CDC45 were set to Craniosynostosis (Wilkie) (from Ana Beleza); Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770)
Skeletal dysplasia v0.0 CCDC8 Zornitza Stark gene: CCDC8 was added
gene: CCDC8 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC8 were set to 21737058
Phenotypes for gene: CCDC8 were set to 3-M syndrome 3, 614205
Skeletal dysplasia v0.0 CC2D2A Zornitza Stark gene: CC2D2A was added
gene: CC2D2A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CC2D2A were set to 24706459; 18513680; 23351400
Phenotypes for gene: CC2D2A were set to Meckel syndrome 6 612284
Skeletal dysplasia v0.0 CASR Zornitza Stark gene: CASR was added
gene: CASR was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CASR were set to Hypocalcemia, autosomal dominant, with Bartter syndrome 601198; Hypocalcemia, autosomal dominant 601198; Hyperparathyroidism, neonatal 239200; Hypocalciuric hypercalcemia, type I 145980
Skeletal dysplasia v0.0 CANT1 Zornitza Stark gene: CANT1 was added
gene: CANT1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CANT1 were set to multiple epiphyseal dysplasia type 7, 617719.; Desbuquois dysplasia 1 251450
Skeletal dysplasia v0.0 CA2 Zornitza Stark gene: CA2 was added
gene: CA2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730
Skeletal dysplasia v0.0 C2CD3 Zornitza Stark gene: C2CD3 was added
gene: C2CD3 was added to Skeletal dysplasia. Sources: UKGTN,NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C2CD3 were set to Orofaciodigital syndrome XIV 615948
Skeletal dysplasia v0.0 C21orf2 Zornitza Stark gene: C21orf2 was added
gene: C21orf2 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert list,Expert Review Green
Mode of inheritance for gene: C21orf2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C21orf2 were set to 26974433
Phenotypes for gene: C21orf2 were set to Axial Spondylometaphyseal Dysplasia 602271; Spondylometaphyseal dysplasia, axial 602271
Skeletal dysplasia v0.0 BMPR1B Zornitza Stark gene: BMPR1B was added
gene: BMPR1B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: BMPR1B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: BMPR1B were set to Brachydactyly, type A1, D 616849; Acromesomelic dysplasia, Demirhan type 609441; Brachydactyly, type A2 112600
Skeletal dysplasia v0.0 BMPER Zornitza Stark gene: BMPER was added
gene: BMPER was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: BMPER was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BMPER were set to Diaphanospondylodysostosis 608022
Skeletal dysplasia v0.0 BMP2 Zornitza Stark gene: BMP2 was added
gene: BMP2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMP2 were set to 19327734; 29198724; 21357617
Phenotypes for gene: BMP2 were set to {HFE hemochromatosis, modifier of} 235200; short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877.; Brachydactyly, type A2 112600
Skeletal dysplasia v0.0 BMP1 Zornitza Stark gene: BMP1 was added
gene: BMP1 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: BMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BMP1 were set to Osteogenesis imperfecta, type XIII, 614856
Skeletal dysplasia v0.0 BHLHA9 Zornitza Stark gene: BHLHA9 was added
gene: BHLHA9 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: BHLHA9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BHLHA9 were set to Syndactyly, mesoaxial synostotic, with phalangeal reduction 609432
Skeletal dysplasia v0.0 BBS9 Zornitza Stark gene: BBS9 was added
gene: BBS9 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS9 were set to Polydactyly; Bardet Biedl syndrome 9, 615986
Skeletal dysplasia v0.0 BBS7 Zornitza Stark gene: BBS7 was added
gene: BBS7 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS7 were set to Bardet-Biedl syndrome 7, 615984; Polydactyly
Skeletal dysplasia v0.0 BBS5 Zornitza Stark gene: BBS5 was added
gene: BBS5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS5 were set to Polydactyly; Bardet Biedl syndrome 5, 615983
Skeletal dysplasia v0.0 BBS4 Zornitza Stark gene: BBS4 was added
gene: BBS4 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS4 were set to Bardet-Biedl syndrome 4, 615982; Polydactyly
Skeletal dysplasia v0.0 BBS2 Zornitza Stark gene: BBS2 was added
gene: BBS2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to Polydactyly; Bardet-Biedl syndrome 2, 615981
Skeletal dysplasia v0.0 BBS12 Zornitza Stark gene: BBS12 was added
gene: BBS12 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to Bardet Biedl syndrome 12, 615989; Polydactyly
Skeletal dysplasia v0.0 BBS10 Zornitza Stark gene: BBS10 was added
gene: BBS10 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to Bardet Biedl syndrome 10, 615987; Polydactyly
Skeletal dysplasia v0.0 BBS1 Zornitza Stark gene: BBS1 was added
gene: BBS1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBS1 were set to 11567139; 12118255; 12677556; 12567324; 12524598; 23143442
Phenotypes for gene: BBS1 were set to Polydactyly; Bardet-Biedl syndrome 1 209900
Skeletal dysplasia v0.0 B4GALT7 Zornitza Stark gene: B4GALT7 was added
gene: B4GALT7 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome with short stature and limb anomalies 130070
Skeletal dysplasia v0.0 B3GLCT Zornitza Stark gene: B3GLCT was added
gene: B3GLCT was added to Skeletal dysplasia. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GLCT were set to 23889335; 16909395
Phenotypes for gene: B3GLCT were set to Peters-plus syndrome 261540; O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Skeletal dysplasia v0.0 B3GAT3 Zornitza Stark gene: B3GAT3 was added
gene: B3GAT3 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GAT3 were set to Larsen alike phenotype (skd incl); Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600
Skeletal dysplasia v0.0 B3GALT6 Zornitza Stark gene: B3GALT6 was added
gene: B3GALT6 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GALT6 were set to Ehlers-Danlos syndrome, progeroid type, 2 615349; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640
Skeletal dysplasia v0.0 ATP7A Zornitza Stark gene: ATP7A was added
gene: ATP7A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP7A were set to Spinal muscular atrophy, distal, 300489; Menkes disease 309400; Occipital horn syndrome 304150
Skeletal dysplasia v0.0 ATP6V0A2 Zornitza Stark gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA 219200; Cutis laxa, autosomal recessive, type IIA 219200
Skeletal dysplasia v0.0 ASXL2 Zornitza Stark gene: ASXL2 was added
gene: ASXL2 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green
Mode of inheritance for gene: ASXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ASXL2 were set to 27693232
Phenotypes for gene: ASXL2 were set to Shashi-Pena syndrome 617190; Shashi-Pena syndrome 617190
Skeletal dysplasia v0.0 ASXL1 Zornitza Stark gene: ASXL1 was added
gene: ASXL1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ASXL1 were set to Bohring-Opitz syndrome 605039
Skeletal dysplasia v0.0 ARSE Zornitza Stark gene: ARSE was added
gene: ARSE was added to Skeletal dysplasia. Sources: UKGTN,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARSE were set to CHONDRODYSPLASIA PUNCTATA 1, X-LINKED; X-linked recessive chondrodysplasia punctata; Chondrodysplasia punctata, X-linked recessive, 302950; CDPXL
Skeletal dysplasia v0.0 ARSB Zornitza Stark gene: ARSB was added
gene: ARSB was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200; Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200
Skeletal dysplasia v0.0 ARL6 Zornitza Stark gene: ARL6 was added
gene: ARL6 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL6 were set to 19858128; 15314642; 15258860
Phenotypes for gene: ARL6 were set to Polydactyly; Bardet-Biedl syndrome 3 600151
Skeletal dysplasia v0.0 ARHGAP31 Zornitza Stark gene: ARHGAP31 was added
gene: ARHGAP31 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARHGAP31 were set to 21565291; 29924900
Phenotypes for gene: ARHGAP31 were set to Adams-Oliver syndrome 1 100300
Skeletal dysplasia v0.0 ANTXR2 Zornitza Stark gene: ANTXR2 was added
gene: ANTXR2 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANTXR2 were set to Hyaline fibromatosis syndrome 228600
Skeletal dysplasia v0.0 ANO5 Zornitza Stark gene: ANO5 was added
gene: ANO5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: ANO5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANO5 were set to Disproportionate Short Stature; Osteogenesis Imperfecta and Decreased Bone Density; Gnatodiaphyseal dysplasia; skeletal dysplasias
Skeletal dysplasia v0.0 ANKRD11 Zornitza Stark gene: ANKRD11 was added
gene: ANKRD11 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKRD11 were set to KBG syndrome 148050
Skeletal dysplasia v0.0 ANKH Zornitza Stark gene: ANKH was added
gene: ANKH was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ANKH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKH were set to Chondrocalcinosis 2 118600; Craniometaphyseal dysplasia 123000
Skeletal dysplasia v0.0 AMER1 Zornitza Stark gene: AMER1 was added
gene: AMER1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: AMER1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: AMER1 were set to Osteopathia striata with cranial sclerosis 300373; Osteopathia striata with cranial sclerosis 300373
Skeletal dysplasia v0.0 ALX4 Zornitza Stark gene: ALX4 was added
gene: ALX4 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ALX4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALX4 were set to Frontonasal dysplasia 2 613451
Skeletal dysplasia v0.0 ALX3 Zornitza Stark gene: ALX3 was added
gene: ALX3 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: ALX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALX3 were set to Frontonasal dysplasia 1 136760; Frontonasal dysplasia 1 136760 (frontorhiny)
Skeletal dysplasia v0.0 ALX1 Zornitza Stark gene: ALX1 was added
gene: ALX1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: ALX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALX1 were set to 20451171; 27324866
Phenotypes for gene: ALX1 were set to Frontonasal dysplasia 3 613456; Frontonasal dysplasia type 3 613456
Skeletal dysplasia v0.0 ALPL Zornitza Stark gene: ALPL was added
gene: ALPL was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: ALPL were set to hypophosphatasia; Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias
Skeletal dysplasia v0.0 ALG9 Zornitza Stark gene: ALG9 was added
gene: ALG9 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG9 were set to 25966638
Phenotypes for gene: ALG9 were set to Gillessen-Kaesbach-Nishimura syndrome 263210; Congenital disorder of glycosylation, type Il 608776; Gillessen-Kaesbach-Nishimura syndrome 263210
Skeletal dysplasia v0.0 ALG3 Zornitza Stark gene: ALG3 was added
gene: ALG3 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id 601110
Skeletal dysplasia v0.0 ALG12 Zornitza Stark gene: ALG12 was added
gene: ALG12 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig 607143
Skeletal dysplasia v0.0 AGPS Zornitza Stark gene: AGPS was added
gene: AGPS was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGPS were set to Foundation Trust) Rhizomelic chondrodysplasia punctata, type 3 600121; Rhizomelic chondrodysplasia punctata, type 3 600121
Skeletal dysplasia v0.0 AGA Zornitza Stark gene: AGA was added
gene: AGA was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGA were set to Aspartylglucosaminuria 208400 (Patients may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short)
Skeletal dysplasia v0.0 ADAMTSL2 Zornitza Stark gene: ADAMTSL2 was added
gene: ADAMTSL2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1 231050
Skeletal dysplasia v0.0 ADAMTS17 Zornitza Stark gene: ADAMTS17 was added
gene: ADAMTS17 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS17 were set to 19836009; 31019231; 22486325; 24940034
Phenotypes for gene: ADAMTS17 were set to Weill-Marchesani syndrome type 4
Skeletal dysplasia v0.0 ADAMTS10 Zornitza Stark gene: ADAMTS10 was added
gene: ADAMTS10 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ADAMTS10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS10 were set to 19836009; 30060141; 15368195
Phenotypes for gene: ADAMTS10 were set to Weill-Marchesani syndrome 1, recessive, 277600
Skeletal dysplasia v0.0 ACVR1 Zornitza Stark gene: ACVR1 was added
gene: ACVR1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACVR1 were set to Fibrodysplasia ossificans progressiva 135100
Skeletal dysplasia v0.0 ACP5 Zornitza Stark gene: ACP5 was added
gene: ACP5 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACP5 were set to Spondyloenchondrodysplasia with immune dysregulation 607944
Skeletal dysplasia v0.0 ACAN Zornitza Stark gene: ACAN was added
gene: ACAN was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ACAN were set to 24762113
Phenotypes for gene: ACAN were set to Spondyloepiphyseal dysplasia, Kimberley type 608361; Osteochondritis dissecans, short stature, and early-onset osteoarthritis 165800; Spondyloepimetaphyseal dysplasia, aggrecan type 61283
Skeletal dysplasia v0.0 ABCC9 Zornitza Stark gene: ABCC9 was added
gene: ABCC9 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ABCC9 were set to Hypertrichotic osteochondrodysplasia 23985 (Cantu syndrome); Hypertrichotic osteochondrodysplasia 239850
Skeletal dysplasia v0.0 Zornitza Stark Added panel Skeletal dysplasia
Mendeliome v0.357 TTLL10 Zornitza Stark Marked gene: TTLL10 as ready
Mendeliome v0.357 TTLL10 Zornitza Stark Gene: ttll10 has been classified as Red List (Low Evidence).
Mendeliome v0.357 TTLL10 Zornitza Stark Classified gene: TTLL10 as Red List (low evidence)
Mendeliome v0.357 TTLL10 Zornitza Stark Gene: ttll10 has been classified as Red List (Low Evidence).
Mendeliome v0.356 TTLL10 Zornitza Stark reviewed gene: TTLL10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.356 ZFHX3 Zornitza Stark Marked gene: ZFHX3 as ready
Mendeliome v0.356 ZFHX3 Zornitza Stark Gene: zfhx3 has been classified as Green List (High Evidence).
Mendeliome v0.356 ZFHX3 Zornitza Stark Phenotypes for gene: ZFHX3 were changed from to Intellectual disability
Mendeliome v0.355 ZFHX3 Zornitza Stark Mode of inheritance for gene: ZFHX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.354 ZFHX3 Zornitza Stark reviewed gene: ZFHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1413 ZFHX3 Zornitza Stark Marked gene: ZFHX3 as ready
Intellectual disability syndromic and non-syndromic v0.1413 ZFHX3 Zornitza Stark Gene: zfhx3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1413 ZFHX3 Zornitza Stark Classified gene: ZFHX3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1413 ZFHX3 Zornitza Stark Gene: zfhx3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1412 ZFHX3 Zornitza Stark gene: ZFHX3 was added
gene: ZFHX3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Research
Mode of inheritance for gene: ZFHX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZFHX3 were set to Intellectual disability
Review for gene: ZFHX3 was set to GREEN
Added comment: Personal communication: Over 20 individuals with mostly de novo variants in this gene and mild ID/DD
Sources: Research
Mendeliome v0.354 USP7 Zornitza Stark Marked gene: USP7 as ready
Mendeliome v0.354 USP7 Zornitza Stark Gene: usp7 has been classified as Green List (High Evidence).
Mendeliome v0.354 USP7 Zornitza Stark Phenotypes for gene: USP7 were changed from to Intellectual disability; Autism
Mendeliome v0.353 USP7 Zornitza Stark Publications for gene: USP7 were set to
Mendeliome v0.352 USP7 Zornitza Stark Mode of inheritance for gene: USP7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.351 USP7 Zornitza Stark reviewed gene: USP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 30679821; Phenotypes: Intellectual disability, Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1411 USP7 Natasha Brown Marked gene: USP7 as ready
Intellectual disability syndromic and non-syndromic v0.1411 USP7 Natasha Brown Gene: usp7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1411 USP7 Natasha Brown Classified gene: USP7 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1411 USP7 Natasha Brown Gene: usp7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1410 USP7 Natasha Brown gene: USP7 was added
gene: USP7 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: USP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: USP7 were set to 30679821
Phenotypes for gene: USP7 were set to ID; Autism
Review for gene: USP7 was set to GREEN
Added comment: at least 16 individuals identified and 7 previous cases
Sources: Literature
Mendeliome v0.351 KLHL24 Tiong Tan Marked gene: KLHL24 as ready
Mendeliome v0.351 KLHL24 Tiong Tan Gene: klhl24 has been classified as Green List (High Evidence).
Mendeliome v0.351 KLHL24 Tiong Tan Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy to Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy
Mendeliome v0.350 KLHL24 Tiong Tan Phenotypes for gene: KLHL24 were changed from to Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy
Mendeliome v0.349 KLHL24 Tiong Tan Publications for gene: KLHL24 were set to
Mendeliome v0.348 KLHL24 Tiong Tan Mode of inheritance for gene: KLHL24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.347 KLHL24 Tiong Tan reviewed gene: KLHL24: Rating: GREEN; Mode of pathogenicity: None; Publications: 29779254, 30120936; Phenotypes: Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294, dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.44 SEC31A Tiong Tan Marked gene: SEC31A as ready
Microcephaly v0.44 SEC31A Tiong Tan Gene: sec31a has been classified as Amber List (Moderate Evidence).
Microcephaly v0.44 SEC31A Tiong Tan Classified gene: SEC31A as Amber List (moderate evidence)
Microcephaly v0.44 SEC31A Tiong Tan Gene: sec31a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1409 SEC31A Tiong Tan Marked gene: SEC31A as ready
Intellectual disability syndromic and non-syndromic v0.1409 SEC31A Tiong Tan Gene: sec31a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1409 SEC31A Tiong Tan Classified gene: SEC31A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1409 SEC31A Tiong Tan Gene: sec31a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1408 SEC31A Tiong Tan gene: SEC31A was added
gene: SEC31A was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SEC31A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC31A were set to 30464055
Phenotypes for gene: SEC31A were set to ?Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, OMIM #618651
Review for gene: SEC31A was set to AMBER
Added comment: Single family with two affected sibs with functional data (drosophila)
Sources: Literature
Microcephaly v0.43 SEC31A Tiong Tan gene: SEC31A was added
gene: SEC31A was added to Microcephaly_VCGS. Sources: Literature
Mode of inheritance for gene: SEC31A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC31A were set to 30464055
Phenotypes for gene: SEC31A were set to ?Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, OMIM #618651
Review for gene: SEC31A was set to AMBER
Added comment: Single family with two affected sibs with functional data (drosophila)
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1407 SLC12A2 Zornitza Stark Marked gene: SLC12A2 as ready
Intellectual disability syndromic and non-syndromic v0.1407 SLC12A2 Zornitza Stark Gene: slc12a2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1407 SLC12A2 Zornitza Stark Classified gene: SLC12A2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1407 SLC12A2 Zornitza Stark Gene: slc12a2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1406 SLC12A2 Zornitza Stark gene: SLC12A2 was added
gene: SLC12A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SLC12A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A2 were set to 30740830
Phenotypes for gene: SLC12A2 were set to Kilquist syndrome; deafness; intellectual disability; dysmorphic features; absent salivation
Review for gene: SLC12A2 was set to AMBER
Added comment: Single individual with bi-alllelic deletion described; mouse model recapitulated the phenotype.
Sources: Literature
Mendeliome v0.347 SLC12A2 Zornitza Stark Marked gene: SLC12A2 as ready
Mendeliome v0.347 SLC12A2 Zornitza Stark Gene: slc12a2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.347 SLC12A2 Zornitza Stark Classified gene: SLC12A2 as Amber List (moderate evidence)
Mendeliome v0.347 SLC12A2 Zornitza Stark Gene: slc12a2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.346 SLC12A2 Zornitza Stark gene: SLC12A2 was added
gene: SLC12A2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SLC12A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A2 were set to 30740830
Phenotypes for gene: SLC12A2 were set to Kilquist syndrome; deafness; intellectual disability; dysmorphic features; absent salivation
Review for gene: SLC12A2 was set to AMBER
Added comment: Single individual with bi-alllelic deletion described; mouse model recapitulated the phenotype.
Sources: Literature
Deafness_IsolatedAndComplex v0.4 SLC12A2 Zornitza Stark Marked gene: SLC12A2 as ready
Deafness_IsolatedAndComplex v0.4 SLC12A2 Zornitza Stark Gene: slc12a2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.4 SLC12A2 Zornitza Stark Classified gene: SLC12A2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.4 SLC12A2 Zornitza Stark Gene: slc12a2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.3 SLC12A2 Zornitza Stark gene: SLC12A2 was added
gene: SLC12A2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: SLC12A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A2 were set to 30740830
Phenotypes for gene: SLC12A2 were set to Kilquist syndrome; deafness; intellectual disability; dysmorphic features; absent salivation
Review for gene: SLC12A2 was set to AMBER
Added comment: Single individual with bi-alllelic deletion described; mouse model recapitulated the phenotype.
Sources: Literature
Mendeliome v0.345 PANK4 Zornitza Stark Marked gene: PANK4 as ready
Mendeliome v0.345 PANK4 Zornitza Stark Gene: pank4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.345 PANK4 Zornitza Stark Classified gene: PANK4 as Amber List (moderate evidence)
Mendeliome v0.345 PANK4 Zornitza Stark Gene: pank4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.344 PANK4 Zornitza Stark gene: PANK4 was added
gene: PANK4 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PANK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PANK4 were set to 30585370
Phenotypes for gene: PANK4 were set to Congenital posterior cataract
Review for gene: PANK4 was set to AMBER
Added comment: Variant segregated with cataract in single 4-generation family, functional data including mouse model.
Sources: Literature
Cataract v0.4 PANK4 Zornitza Stark Marked gene: PANK4 as ready
Cataract v0.4 PANK4 Zornitza Stark Gene: pank4 has been classified as Amber List (Moderate Evidence).
Cataract v0.4 PANK4 Zornitza Stark Classified gene: PANK4 as Amber List (moderate evidence)
Cataract v0.4 PANK4 Zornitza Stark Gene: pank4 has been classified as Amber List (Moderate Evidence).
Cataract v0.3 PANK4 Zornitza Stark gene: PANK4 was added
gene: PANK4 was added to Cataract_VCGS. Sources: Literature
Mode of inheritance for gene: PANK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PANK4 were set to 30585370
Phenotypes for gene: PANK4 were set to Congenital posterior cataract
Review for gene: PANK4 was set to AMBER
Added comment: Variant segregated with cataract in single 4-generation family, functional data including mouse model.
Sources: Literature
Mendeliome v0.343 CSNK1E Zornitza Stark Marked gene: CSNK1E as ready
Mendeliome v0.343 CSNK1E Zornitza Stark Gene: csnk1e has been classified as Red List (Low Evidence).
Mendeliome v0.343 CSNK1E Zornitza Stark gene: CSNK1E was added
gene: CSNK1E was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: CSNK1E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CSNK1E were set to 30488659
Phenotypes for gene: CSNK1E were set to Epileptic encephalopathy
Review for gene: CSNK1E was set to RED
Added comment: De novo splicing variant reported but in conjunction with STXBP1 variants; authors postulate it may contribute to susceptibility. Also reports linking variants in this gene to psychiatric disorders.
Sources: Literature
Genetic Epilepsy v0.41 CSNK1E Zornitza Stark Marked gene: CSNK1E as ready
Genetic Epilepsy v0.41 CSNK1E Zornitza Stark Gene: csnk1e has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.41 CSNK1E Zornitza Stark gene: CSNK1E was added
gene: CSNK1E was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: CSNK1E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CSNK1E were set to 30488659
Phenotypes for gene: CSNK1E were set to Epileptic encephalopathy
Review for gene: CSNK1E was set to RED
Added comment: De novo splicing variant reported but in conjunction with STXBP1 variants; authors postulate it may contribute to susceptibility. Also reports linking variants in this gene to psychiatric disorders.
Sources: Literature
Mendeliome v0.342 DST Zornitza Stark Marked gene: DST as ready
Mendeliome v0.342 DST Zornitza Stark Gene: dst has been classified as Green List (High Evidence).
Mendeliome v0.342 DST Zornitza Stark Phenotypes for gene: DST were changed from to Neuropathy, hereditary sensory and autonomic, type VI, MIM#614653; Epidermolysis bullosa simplex, autosomal recessive 2, MIM#615425
Mendeliome v0.341 DST Zornitza Stark Publications for gene: DST were set to
Mendeliome v0.340 DST Zornitza Stark Mode of inheritance for gene: DST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.339 DST Zornitza Stark reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: None; Publications: 22522446, 30371979, 28468842; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VI, MIM#614653, Epidermolysis bullosa simplex, autosomal recessive 2, MIM#615425; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.339 DEGS1 Zornitza Stark Marked gene: DEGS1 as ready
Mendeliome v0.339 DEGS1 Zornitza Stark Gene: degs1 has been classified as Green List (High Evidence).
Mendeliome v0.339 DEGS1 Zornitza Stark Classified gene: DEGS1 as Green List (high evidence)
Mendeliome v0.339 DEGS1 Zornitza Stark Gene: degs1 has been classified as Green List (High Evidence).
Mendeliome v0.338 DEGS1 Zornitza Stark gene: DEGS1 was added
gene: DEGS1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DEGS1 were set to 30620338; 30620337
Phenotypes for gene: DEGS1 were set to Leukodystrophy, hypomyelinating, 18, MIM#618404
Review for gene: DEGS1 was set to GREEN
Added comment: 20 individuals from 14 unrelated families.
Sources: Literature
Predominantly Antibody Deficiency v0.3 ARHGEF1 Zornitza Stark Marked gene: ARHGEF1 as ready
Predominantly Antibody Deficiency v0.3 ARHGEF1 Zornitza Stark Gene: arhgef1 has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.3 ARHGEF1 Zornitza Stark gene: ARHGEF1 was added
gene: ARHGEF1 was added to Predominantly antibody deficiency_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: ARHGEF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARHGEF1 were set to 30521495
Phenotypes for gene: ARHGEF1 were set to Immunodeficiency 62, MIM#618459
Review for gene: ARHGEF1 was set to RED
Added comment: Single family, functional data.
Sources: Literature
Mendeliome v0.337 POLD2 Zornitza Stark Marked gene: POLD2 as ready
Mendeliome v0.337 POLD2 Zornitza Stark Gene: pold2 has been classified as Red List (Low Evidence).
Mendeliome v0.337 POLD2 Zornitza Stark gene: POLD2 was added
gene: POLD2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: POLD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLD2 were set to 31449058
Phenotypes for gene: POLD2 were set to Intellectual disability; immunodeficiency
Review for gene: POLD2 was set to RED
Added comment: Single family, functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1405 POLD2 Zornitza Stark Marked gene: POLD2 as ready
Intellectual disability syndromic and non-syndromic v0.1405 POLD2 Zornitza Stark Gene: pold2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1405 POLD2 Zornitza Stark gene: POLD2 was added
gene: POLD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: POLD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLD2 were set to 31449058
Phenotypes for gene: POLD2 were set to Intellectual disability; immunodeficiency
Review for gene: POLD2 was set to RED
Added comment: Single family, functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1404 POLD1 Zornitza Stark Marked gene: POLD1 as ready
Intellectual disability syndromic and non-syndromic v0.1404 POLD1 Zornitza Stark Gene: pold1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1404 POLD1 Zornitza Stark gene: POLD1 was added
gene: POLD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: POLD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLD1 were set to 31449058
Phenotypes for gene: POLD1 were set to Intellectual disability; immunodeficiency
Review for gene: POLD1 was set to RED
Added comment: Single family reported with biallelic variants in this gene. Note heterozygous variants cause a different condition: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM#615381
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.25 MYOCD Zornitza Stark Marked gene: MYOCD as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.25 MYOCD Zornitza Stark Gene: myocd has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.25 MYOCD Zornitza Stark Classified gene: MYOCD as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.25 MYOCD Zornitza Stark Gene: myocd has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.24 MYOCD Zornitza Stark gene: MYOCD was added
gene: MYOCD was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Literature
Mode of inheritance for gene: MYOCD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYOCD were set to 31513549
Phenotypes for gene: MYOCD were set to Megabladder; congenital heart disease; cardiomyopathy
Review for gene: MYOCD was set to GREEN
Added comment: Four unrelated families. Mono allelic disease in males (megabladder), bi-allelic disease in males and females (megabladder and congenital heart disease).
Sources: Literature
Mendeliome v0.336 ZNF292 Zornitza Stark Marked gene: ZNF292 as ready
Mendeliome v0.336 ZNF292 Zornitza Stark Gene: znf292 has been classified as Green List (High Evidence).
Mendeliome v0.336 ZNF292 Zornitza Stark Classified gene: ZNF292 as Green List (high evidence)
Mendeliome v0.336 ZNF292 Zornitza Stark Gene: znf292 has been classified as Green List (High Evidence).
Mendeliome v0.335 ZNF292 Zornitza Stark gene: ZNF292 was added
gene: ZNF292 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ZNF292 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF292 were set to 31723249
Phenotypes for gene: ZNF292 were set to Intellectual disability; Autism; ADHD
Review for gene: ZNF292 was set to GREEN
Added comment: 28 families with spectrum of neurodevelopmental features (including ID, ASD, and ADHD) due to de novo ZNF292 variants (1 family inherited). No functional evidence of specific variants, but ZNF292 is highly expressed in the developing human brain.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1403 ZNF292 Zornitza Stark Marked gene: ZNF292 as ready
Intellectual disability syndromic and non-syndromic v0.1403 ZNF292 Zornitza Stark Gene: znf292 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1403 ZNF292 Zornitza Stark Added comment: Comment on phenotypes: no OMIM number yet
Intellectual disability syndromic and non-syndromic v0.1403 ZNF292 Zornitza Stark Phenotypes for gene: ZNF292 were changed from no OMIM number yet to Intellectual disability; autism; ADHD
Intellectual disability syndromic and non-syndromic v0.1402 ZMIZ1 Zornitza Stark Marked gene: ZMIZ1 as ready
Intellectual disability syndromic and non-syndromic v0.1402 ZMIZ1 Zornitza Stark Added comment: Comment when marking as ready: Please note transcription error in review relating to another gene, ZNF292. 19 families reported with heterozygous variants in this gene and a neurodevelopmental phenotype.
Intellectual disability syndromic and non-syndromic v0.1402 ZMIZ1 Zornitza Stark Gene: zmiz1 has been classified as Green List (High Evidence).
Mendeliome v0.334 ZMIZ1 Zornitza Stark Marked gene: ZMIZ1 as ready
Mendeliome v0.334 ZMIZ1 Zornitza Stark Gene: zmiz1 has been classified as Green List (High Evidence).
Mendeliome v0.334 ZMIZ1 Zornitza Stark Classified gene: ZMIZ1 as Green List (high evidence)
Mendeliome v0.334 ZMIZ1 Zornitza Stark Gene: zmiz1 has been classified as Green List (High Evidence).
Mendeliome v0.333 ZMIZ1 Zornitza Stark gene: ZMIZ1 was added
gene: ZMIZ1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMIZ1 were set to 30639322
Phenotypes for gene: ZMIZ1 were set to Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies; OMIM #618659
Review for gene: ZMIZ1 was set to GREEN
Added comment: 19 unrelated individuals with heterozygous variants in this gene reported.
Sources: Literature
Mendeliome v0.332 VAMP2 Zornitza Stark Marked gene: VAMP2 as ready
Mendeliome v0.332 VAMP2 Zornitza Stark Gene: vamp2 has been classified as Green List (High Evidence).
Mendeliome v0.332 VAMP2 Zornitza Stark Classified gene: VAMP2 as Green List (high evidence)
Mendeliome v0.332 VAMP2 Zornitza Stark Gene: vamp2 has been classified as Green List (High Evidence).
Mendeliome v0.331 VAMP2 Zornitza Stark gene: VAMP2 was added
gene: VAMP2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: VAMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VAMP2 were set to 30929742
Phenotypes for gene: VAMP2 were set to Intellectual disability; Autism
Review for gene: VAMP2 was set to GREEN
Added comment: 5 unrelated patients with heterozygous de novo mutations in VAMP2, presenting with a neurodevelopmental disorder characterized by axial hypotonia, intellectual disability, and autistic features. Affected individuals carrying de novo non-synonymous variants involving the C-terminal region presented a more severe phenotype with additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. Reconstituted fusion involving a lipid-mixing assay indicated impairment in vesicle fusion as one of the possible associated disease mechanisms.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1402 VAMP2 Zornitza Stark Marked gene: VAMP2 as ready
Intellectual disability syndromic and non-syndromic v0.1402 VAMP2 Zornitza Stark Gene: vamp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1402 VAMP2 Zornitza Stark Phenotypes for gene: VAMP2 were changed from no OMIM number yet to Intellectual disability; autism; no OMIM number yet
Intellectual disability syndromic and non-syndromic v0.1401 TUBB Zornitza Stark Marked gene: TUBB as ready
Intellectual disability syndromic and non-syndromic v0.1401 TUBB Zornitza Stark Gene: tubb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1401 TUBB Zornitza Stark Phenotypes for gene: TUBB were changed from to Cortical dysplasia, complex, with other brain malformations 6, MIM#615771
Intellectual disability syndromic and non-syndromic v0.1400 TUBB Zornitza Stark Publications for gene: TUBB were set to
Intellectual disability syndromic and non-syndromic v0.1399 TUBB Zornitza Stark Mode of inheritance for gene: TUBB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1398 TUBB Zornitza Stark reviewed gene: TUBB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23246003; Phenotypes: Cortical dysplasia, complex, with other brain malformations 6, MIM#615771; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1398 TENM3 Zornitza Stark Marked gene: TENM3 as ready
Intellectual disability syndromic and non-syndromic v0.1398 TENM3 Zornitza Stark Added comment: Comment when marking as ready: Intellectual disability is part of the phenotype.
Intellectual disability syndromic and non-syndromic v0.1398 TENM3 Zornitza Stark Gene: tenm3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1398 TENM3 Zornitza Stark Classified gene: TENM3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1398 TENM3 Zornitza Stark Gene: tenm3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1397 TENM3 Zornitza Stark gene: TENM3 was added
gene: TENM3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: TENM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TENM3 were set to 30513139; 22766609; 27103084; 29753094
Phenotypes for gene: TENM3 were set to Microphthalmia, syndromic 15, MIM#615145; coloboma
Review for gene: TENM3 was set to GREEN
Added comment: At least four unrelated families described with syndromic microphthalmia and bi-allelic variants in this gene.
Sources: Literature
Mendeliome v0.330 TENM3 Zornitza Stark Marked gene: TENM3 as ready
Mendeliome v0.330 TENM3 Zornitza Stark Gene: tenm3 has been classified as Green List (High Evidence).
Mendeliome v0.330 TENM3 Zornitza Stark Phenotypes for gene: TENM3 were changed from to Microphthalmia, syndromic 15, MIM#615145; coloboma
Mendeliome v0.329 TENM3 Zornitza Stark Publications for gene: TENM3 were set to
Mendeliome v0.328 TENM3 Zornitza Stark Mode of inheritance for gene: TENM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.327 TENM3 Zornitza Stark reviewed gene: TENM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30513139, 22766609, 27103084, 29753094; Phenotypes: Microphthalmia, syndromic 15, MIM#615145, coloboma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.3 TENM3 Zornitza Stark Marked gene: TENM3 as ready
Anophthalmia_Microphthalmia_Coloboma v0.3 TENM3 Zornitza Stark Gene: tenm3 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.3 TENM3 Zornitza Stark Classified gene: TENM3 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.3 TENM3 Zornitza Stark Gene: tenm3 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.2 TENM3 Zornitza Stark gene: TENM3 was added
gene: TENM3 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Literature
Mode of inheritance for gene: TENM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TENM3 were set to 30513139; 22766609; 27103084; 29753094
Phenotypes for gene: TENM3 were set to Microphthalmia, syndromic 15, MIM#615145; coloboma
Review for gene: TENM3 was set to GREEN
Added comment: At least four unrelated families described with syndromic microphthalmia and bi-allelic variants in this gene.
Sources: Literature
Mendeliome v0.327 TARS Zornitza Stark Marked gene: TARS as ready
Mendeliome v0.327 TARS Zornitza Stark Gene: tars has been classified as Amber List (Moderate Evidence).
Mendeliome v0.327 TARS Zornitza Stark Classified gene: TARS as Amber List (moderate evidence)
Mendeliome v0.327 TARS Zornitza Stark Gene: tars has been classified as Amber List (Moderate Evidence).
Mendeliome v0.326 TARS Zornitza Stark gene: TARS was added
gene: TARS was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: TARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TARS were set to 31374204
Phenotypes for gene: TARS were set to Trichothiodystrophy 7, nonphotosensitive; OMIM #618546
Review for gene: TARS was set to AMBER
Added comment: Clinical features of trichothiodystrophy (TTD) include ichthyosis, intellectual disability, decreased fertility, short stature.

2 unrelated patients with non-photosensitive-TTD, in whom limited clinical information was available (one with DD): one compound heterozygous TARS variants, second homozygous for TARS variant. They showed that the variants had a profound effect on TARS protein stability and enzymatic function.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1396 TARS Zornitza Stark Marked gene: TARS as ready
Intellectual disability syndromic and non-syndromic v0.1396 TARS Zornitza Stark Gene: tars has been classified as Amber List (Moderate Evidence).
Mendeliome v0.325 TANC2 Zornitza Stark Marked gene: TANC2 as ready
Mendeliome v0.325 TANC2 Zornitza Stark Gene: tanc2 has been classified as Green List (High Evidence).
Mendeliome v0.325 TANC2 Zornitza Stark Classified gene: TANC2 as Green List (high evidence)
Mendeliome v0.325 TANC2 Zornitza Stark Gene: tanc2 has been classified as Green List (High Evidence).
Mendeliome v0.324 TANC2 Zornitza Stark gene: TANC2 was added
gene: TANC2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: TANC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TANC2 were set to 31616000
Phenotypes for gene: TANC2 were set to Intellectual disability; autism; epilepsy; dysmorphism
Review for gene: TANC2 was set to GREEN
Added comment: 19 families with potentially disruptive heterozygous TANC2 variants, including 16 likely gene-disrupting mutations and three intragenic microdeletions. Patients presented with autism, intellectual disability, delayed language and motor development, epilepsy, facial dysmorphism, with complex psychiatric dysfunction or behavioral problems in adult probands or carrier parents. No functional evidence of specific variants, but they show TANC2 is expressed broadly in the human developing brain, especially in excitatory neurons and glial cells, and shows a more restricted pattern in Drosophila glial cells where its disruption affects behavioral outcomes.
Sources: Literature
Microcephaly v0.42 SVBP Zornitza Stark Marked gene: SVBP as ready
Microcephaly v0.42 SVBP Zornitza Stark Gene: svbp has been classified as Green List (High Evidence).
Microcephaly v0.42 SVBP Zornitza Stark Classified gene: SVBP as Green List (high evidence)
Microcephaly v0.42 SVBP Zornitza Stark Gene: svbp has been classified as Green List (High Evidence).
Microcephaly v0.41 SVBP Zornitza Stark gene: SVBP was added
gene: SVBP was added to Microcephaly_VCGS. Sources: Literature
Mode of inheritance for gene: SVBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SVBP were set to 31363758; 30607023
Phenotypes for gene: SVBP were set to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly; OMIM #618569
Review for gene: SVBP was set to GREEN
Added comment: 5 unrelated families with homozygous mutations in SVBP. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls.
Sources: Literature
Mendeliome v0.323 SVBP Zornitza Stark Marked gene: SVBP as ready
Mendeliome v0.323 SVBP Zornitza Stark Gene: svbp has been classified as Green List (High Evidence).
Mendeliome v0.323 SVBP Zornitza Stark Classified gene: SVBP as Green List (high evidence)
Mendeliome v0.323 SVBP Zornitza Stark Gene: svbp has been classified as Green List (High Evidence).
Mendeliome v0.322 SVBP Zornitza Stark gene: SVBP was added
gene: SVBP was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SVBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SVBP were set to 31363758; 30607023
Phenotypes for gene: SVBP were set to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly; OMIM #618569
Review for gene: SVBP was set to GREEN
Added comment: 5 unrelated families with homozygous mutations in SVBP. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls.
Sources: Literature
Mendeliome v0.321 SOX4 Zornitza Stark Marked gene: SOX4 as ready
Mendeliome v0.321 SOX4 Zornitza Stark Gene: sox4 has been classified as Green List (High Evidence).
Mendeliome v0.321 SOX4 Zornitza Stark Classified gene: SOX4 as Green List (high evidence)
Mendeliome v0.321 SOX4 Zornitza Stark Gene: sox4 has been classified as Green List (High Evidence).
Mendeliome v0.320 SOX4 Zornitza Stark gene: SOX4 was added
gene: SOX4 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SOX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX4 were set to 30661772
Phenotypes for gene: SOX4 were set to Coffin-Siris syndrome 10; OMIM #618506
Review for gene: SOX4 was set to GREEN
Added comment: 4 patients with syndromic DD/ID and de novo mutations in SOX4 gene. Functional assays demonstrated that the SOX4 proteins carrying these variants were unable to bind DNA in vitro and transactivate SOX reporter genes in cultured cells.
Sources: Literature
Mendeliome v0.319 SNRPE Zornitza Stark Marked gene: SNRPE as ready
Mendeliome v0.319 SNRPE Zornitza Stark Gene: snrpe has been classified as Green List (High Evidence).
Mendeliome v0.319 SNRPE Zornitza Stark Phenotypes for gene: SNRPE were changed from to Hypotrichosis 11; OMIM #615059
Mendeliome v0.318 SNRPE Zornitza Stark Publications for gene: SNRPE were set to
Mendeliome v0.317 SNRPE Zornitza Stark Mode of inheritance for gene: SNRPE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Mendeliome v0.316 SNRPE Zornitza Stark reviewed gene: SNRPE: Rating: GREEN; Mode of pathogenicity: None; Publications: 31671093, 23246290; Phenotypes: Hypotrichosis 11, OMIM #615059; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1396 SNRPE Zornitza Stark Marked gene: SNRPE as ready
Intellectual disability syndromic and non-syndromic v0.1396 SNRPE Zornitza Stark Added comment: Comment when marking as ready: Three unrelated families reported with hypotrichosis simplex; only one family reported with ID.
Intellectual disability syndromic and non-syndromic v0.1396 SNRPE Zornitza Stark Gene: snrpe has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1396 SNRPE Zornitza Stark Publications for gene: SNRPE were set to
Mendeliome v0.316 SCAPER Zornitza Stark Marked gene: SCAPER as ready
Mendeliome v0.316 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Mendeliome v0.316 SCAPER Zornitza Stark Classified gene: SCAPER as Green List (high evidence)
Mendeliome v0.316 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Mendeliome v0.315 SCAPER Zornitza Stark gene: SCAPER was added
gene: SCAPER was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCAPER were set to 28794130; 31069901; 31192531; 30723319
Phenotypes for gene: SCAPER were set to Intellectual disability; retinitis pigmentosa
Review for gene: SCAPER was set to GREEN
Added comment: 28 patients from 14 unrelated families with ID and retinitis pigmentosa (some with BBS phenotype), and homozygous or compound heterozygous mutations in SCAPER gene.
Sources: Literature
Genetic Epilepsy v0.40 SCAMP5 Zornitza Stark Marked gene: SCAMP5 as ready
Genetic Epilepsy v0.40 SCAMP5 Zornitza Stark Gene: scamp5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.40 SCAMP5 Zornitza Stark Classified gene: SCAMP5 as Green List (high evidence)
Genetic Epilepsy v0.40 SCAMP5 Zornitza Stark Gene: scamp5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.39 SCAMP5 Zornitza Stark gene: SCAMP5 was added
gene: SCAMP5 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: SCAMP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCAMP5 were set to 31439720
Phenotypes for gene: SCAMP5 were set to Intellectual disability; seizures; autism
Added comment: 2 unrelated individuals with ASD, ID and seizures, with the same heterozygous de novo variant in SCAMP5 (p.Gly302Trp). Western blot analysis of proteins overexpressed in the Drosophila fat body showed strongly reduced levels of the SCAMP p.Gly302Trp protein compared with the wild-type protein, indicating that the mutant either reduced expression or increased turnover of the protein. The expression of the fly homologue of the human SCAMP5 p.Gly180Trp mutation caused similar eye and neuronal phenotypes as the expression of SCAMP RNAi, suggesting a dominant-negative effect.
Sources: Literature
Mendeliome v0.314 SCAMP5 Zornitza Stark Marked gene: SCAMP5 as ready
Mendeliome v0.314 SCAMP5 Zornitza Stark Gene: scamp5 has been classified as Green List (High Evidence).
Mendeliome v0.314 SCAMP5 Zornitza Stark Classified gene: SCAMP5 as Green List (high evidence)
Mendeliome v0.314 SCAMP5 Zornitza Stark Gene: scamp5 has been classified as Green List (High Evidence).
Mendeliome v0.313 SCAMP5 Zornitza Stark gene: SCAMP5 was added
gene: SCAMP5 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SCAMP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCAMP5 were set to 31439720
Phenotypes for gene: SCAMP5 were set to Intellectual disability; seizures; autism
Mode of pathogenicity for gene: SCAMP5 was set to Other
Review for gene: SCAMP5 was set to GREEN
Added comment: 2 unrelated individuals with ASD, ID and seizures, with the same heterozygous de novo variant in SCAMP5 (p.Gly302Trp). Western blot analysis of proteins overexpressed in the Drosophila fat body showed strongly reduced levels of the SCAMP p.Gly302Trp protein compared with the wild-type protein, indicating that the mutant either reduced expression or increased turnover of the protein. The expression of the fly homologue of the human SCAMP5 p.Gly180Trp mutation caused similar eye and neuronal phenotypes as the expression of SCAMP RNAi, suggesting a dominant-negative effect.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1395 SCAMP5 Zornitza Stark Marked gene: SCAMP5 as ready
Intellectual disability syndromic and non-syndromic v0.1395 SCAMP5 Zornitza Stark Added comment: Comment when marking as ready: Two unrelated individuals and functional data, upgraded to Green.
Intellectual disability syndromic and non-syndromic v0.1395 SCAMP5 Zornitza Stark Gene: scamp5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1395 SCAMP5 Zornitza Stark Classified gene: SCAMP5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1395 SCAMP5 Zornitza Stark Gene: scamp5 has been classified as Green List (High Evidence).
Microcephaly v0.40 RNF113A Zornitza Stark Mode of inheritance for gene: RNF113A was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.312 PPP2CA Zornitza Stark Marked gene: PPP2CA as ready
Mendeliome v0.312 PPP2CA Zornitza Stark Gene: ppp2ca has been classified as Green List (High Evidence).
Mendeliome v0.312 PPP2CA Zornitza Stark Classified gene: PPP2CA as Green List (high evidence)
Mendeliome v0.312 PPP2CA Zornitza Stark Gene: ppp2ca has been classified as Green List (High Evidence).
Mendeliome v0.311 PPP2CA Zornitza Stark gene: PPP2CA was added
gene: PPP2CA was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP2CA were set to 30595372
Phenotypes for gene: PPP2CA were set to Neurodevelopmental disorder and language delay with or without structural brain abnormalities; OMIM #618354
Review for gene: PPP2CA was set to GREEN
Added comment: 15 unrelated patients with a neurodevelopmental disorder with de novo heterozygous PPP2CA mutations, and 1 with partial deletion of PPP2CA. Functional studies showed complete PP2A dysfunction in 4 individuals with seemingly milder ID, hinting at haploinsufficiency. Ten other individuals showed mutation-specific biochemical distortions, including poor expression, altered binding to the A subunit and specific B-type subunits, and impaired phosphatase activity and C-terminal methylation.
Sources: Literature
Mendeliome v0.310 POU3F3 Zornitza Stark Marked gene: POU3F3 as ready
Mendeliome v0.310 POU3F3 Zornitza Stark Gene: pou3f3 has been classified as Green List (High Evidence).
Mendeliome v0.310 POU3F3 Zornitza Stark Classified gene: POU3F3 as Green List (high evidence)
Mendeliome v0.310 POU3F3 Zornitza Stark Gene: pou3f3 has been classified as Green List (High Evidence).
Mendeliome v0.309 POU3F3 Zornitza Stark gene: POU3F3 was added
gene: POU3F3 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: POU3F3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POU3F3 were set to 24550763; 31303265
Phenotypes for gene: POU3F3 were set to Intellectual disability
Review for gene: POU3F3 was set to GREEN
Added comment: 19 individuals with DD/ID/speech issues and heterozygous POU3F3 disruptions, most of which were de novo variants. Positive functional cell-based analyses of pathogenic variants.

1 patient reported with whole gene deletion and ID.
Sources: Literature
Cataract v0.2 PISD Zornitza Stark Marked gene: PISD as ready
Cataract v0.2 PISD Zornitza Stark Gene: pisd has been classified as Green List (High Evidence).
Cataract v0.2 PISD Zornitza Stark Publications for gene: PISD were set to
Cataract v0.1 PISD Zornitza Stark Mode of inheritance for gene: PISD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.0 PISD Zornitza Stark reviewed gene: PISD: Rating: GREEN; Mode of pathogenicity: None; Publications: 31263216, 30858161; Phenotypes: Intellectual disability, cataracts, retinal degeneration, microcephaly, deafness, short stature, white matter abnormalities, no OMIM number yet.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.308 PISD Zornitza Stark Marked gene: PISD as ready
Mendeliome v0.308 PISD Zornitza Stark Gene: pisd has been classified as Green List (High Evidence).
Mendeliome v0.308 PISD Zornitza Stark Deleted their comment
Mendeliome v0.308 PISD Zornitza Stark commented on gene: PISD: 4 individuals in 2 unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature (Liberfarb syndrome). Affected individuals shared a homozygous 10-bp deletion immediately upstream of the last exon of the PISD gene. In HEK293T cells, this variant led to aberrant splicing of PISD transcripts. 1 family with 2 sisters with congenital cataracts, short stature, and white matter changes identified compound heterozygous variants in the PISD gene. Decreased conversion of phosphatidylserine to PE in patient fibroblasts is consistent with impaired phosphatidylserine decarboxylase (PISD) enzyme activity.
Intellectual disability syndromic and non-syndromic v0.1394 PISD Zornitza Stark Phenotypes for gene: PISD were changed from no OMIM number yet. to Intellectual disability; cataracts; retinal degeneration; microcephaly; deafness; short stature; white matter abnormalities; no OMIM number yet.
Mendeliome v0.308 PISD Zornitza Stark reviewed gene: PISD: Rating: GREEN; Mode of pathogenicity: None; Publications: 31263216, 30858161; Phenotypes: Intellectual disability, cataracts, retinal degeneration, microcephaly, deafness, short stature, white matter abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.38 PIGU Zornitza Stark Marked gene: PIGU as ready
Genetic Epilepsy v0.38 PIGU Zornitza Stark Gene: pigu has been classified as Green List (High Evidence).
Genetic Epilepsy v0.38 PIGU Zornitza Stark Classified gene: PIGU as Green List (high evidence)
Genetic Epilepsy v0.38 PIGU Zornitza Stark Gene: pigu has been classified as Green List (High Evidence).
Genetic Epilepsy v0.37 PIGU Zornitza Stark gene: PIGU was added
gene: PIGU was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: PIGU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGU were set to 31353022
Phenotypes for gene: PIGU were set to Glycosylphosphatidylinositol biosynthesis defect 21; OMIM #618590
Review for gene: PIGU was set to GREEN
Added comment: 5 patients from 3 unrelated families, with homozygous missense mutations in the PIGU gene. All individuals presented with global DD, severe-to-profound ID, muscular hypotonia, seizures, brain anomalies, scoliosis, and mild facial dysmorphism. Flow cytometric analysis of patient granulocytes showed a characteristic pattern, with reduced cell surface expression of CD16 and CD24. In addition, patient B cells showed increased expression of free GPI anchors determined by a specific antibody, T5. The findings suggested that PIGU mutations reduce the function of the GPI transamidase complex, leading to accumulation of free GPI anchors on the cell surface.
Sources: Literature
Mendeliome v0.308 PIGU Zornitza Stark reviewed gene: PIGU: Rating: GREEN; Mode of pathogenicity: None; Publications: 31353022; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 21, OMIM #618590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.36 PIGB Zornitza Stark Marked gene: PIGB as ready
Genetic Epilepsy v0.36 PIGB Zornitza Stark Gene: pigb has been classified as Green List (High Evidence).
Genetic Epilepsy v0.36 PIGB Zornitza Stark Classified gene: PIGB as Green List (high evidence)
Genetic Epilepsy v0.36 PIGB Zornitza Stark Gene: pigb has been classified as Green List (High Evidence).
Genetic Epilepsy v0.35 PIGB Zornitza Stark gene: PIGB was added
gene: PIGB was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGB were set to 31256876
Phenotypes for gene: PIGB were set to Epileptic encephalopathy, early infantile, 80; OMIM #618580
Review for gene: PIGB was set to GREEN
Added comment: 10 unrelated families with biallelic mutations in PIGB, with global DD and/or ID, and seizures. Two had polymicrogyria, 4 had a peripheral neuropathy, and 2 had a clinical diagnosis of DOORS syndrome. Patient lymphocytes and fibroblasts showed variably decreased levels of cell surface GPI-anchored proteins, including CD16 and CD59. In vitro functional expression studies performed with some of the mutations in PIGB-null CHO cells showed that the mutant proteins were unable to fully restore expression of GPI-anchored surface proteins, consistent with a loss of function, although the mutations had variable effects.
Sources: Literature
Mendeliome v0.308 PIGB Zornitza Stark Marked gene: PIGB as ready
Mendeliome v0.308 PIGB Zornitza Stark Gene: pigb has been classified as Green List (High Evidence).
Mendeliome v0.308 PIGB Zornitza Stark Classified gene: PIGB as Green List (high evidence)
Mendeliome v0.308 PIGB Zornitza Stark Gene: pigb has been classified as Green List (High Evidence).
Mendeliome v0.307 PIGB Zornitza Stark gene: PIGB was added
gene: PIGB was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGB were set to 31256876
Phenotypes for gene: PIGB were set to Epileptic encephalopathy, early infantile, 80; OMIM #618580
Review for gene: PIGB was set to GREEN
Added comment: 10 unrelated families with biallelic mutations in PIGB, with global DD and/or ID, and seizures. Two had polymicrogyria, 4 had a peripheral neuropathy, and 2 had a clinical diagnosis of DOORS syndrome. Patient lymphocytes and fibroblasts showed variably decreased levels of cell surface GPI-anchored proteins, including CD16 and CD59. In vitro functional expression studies performed with some of the mutations in PIGB-null CHO cells showed that the mutant proteins were unable to fully restore expression of GPI-anchored surface proteins, consistent with a loss of function, although the mutations had variable effects.
Sources: Literature
Mendeliome v0.306 PIBF1 Zornitza Stark Marked gene: PIBF1 as ready
Mendeliome v0.306 PIBF1 Zornitza Stark Gene: pibf1 has been classified as Green List (High Evidence).
Mendeliome v0.306 PIBF1 Zornitza Stark Classified gene: PIBF1 as Green List (high evidence)
Mendeliome v0.306 PIBF1 Zornitza Stark Gene: pibf1 has been classified as Green List (High Evidence).
Mendeliome v0.305 PIBF1 Zornitza Stark gene: PIBF1 was added
gene: PIBF1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIBF1 were set to 26167768; 30858804; 29695797
Phenotypes for gene: PIBF1 were set to Joubert syndrome 33; OMIM #617767
Review for gene: PIBF1 was set to GREEN
Added comment: Three unrelated families plus three Hutterite families reported with bi-allelic variants in this gene.
Sources: Literature
Mendeliome v0.304 PHF21A Zornitza Stark Marked gene: PHF21A as ready
Mendeliome v0.304 PHF21A Zornitza Stark Gene: phf21a has been classified as Green List (High Evidence).
Mendeliome v0.304 PHF21A Zornitza Stark Classified gene: PHF21A as Green List (high evidence)
Mendeliome v0.304 PHF21A Zornitza Stark Gene: phf21a has been classified as Green List (High Evidence).
Mendeliome v0.303 PHF21A Zornitza Stark gene: PHF21A was added
gene: PHF21A was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PHF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHF21A were set to 31649809; 30487643; 22770980
Phenotypes for gene: PHF21A were set to Intellectual disability; dysmorphic features
Review for gene: PHF21A was set to GREEN
Added comment: 9 cases with intellectual disability and craniofacial anomalies (Potocki-Shaffer syndrome), with de novo truncating variants in PHF21A. No functional evidence of variants, but PHF21A is highly expressed in the human fetal brain, which is consistent with the neurodevelopmental phenotype.

2 other unrelated individuals with translocations disrupting PHF21A. Lymphoblastoid cell lines from translocation subjects showed derepression of the neuronal gene SCN3A and reduced LSD1 occupancy at the SCN3A promoter, supporting a direct functional consequence of PHF21A haploinsufficiency on transcriptional regulation.
Sources: Literature
Arrhythmia_SuperPanel v0.0 Zornitza Stark Added Panel Arrhythmia_SuperPanel_VCGS
Set child panels to: Brugada syndrome_VCGS; Ventricular fibrillation_VCGS; Atrial fibrilation_VCGS; Sick sinus syndrome_VCGS; Catecholaminergic polymorphic ventricular tachycardia (CPVT)_VCGS; Short QT syndrome_VCGS; Long QT syndrome_VCGS
Set panel types to: Superpanel
Hypertrophic cardiomyopathy_HCM v0.2 C1QBP Zornitza Stark Marked gene: C1QBP as ready
Hypertrophic cardiomyopathy_HCM v0.2 C1QBP Zornitza Stark Gene: c1qbp has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy_HCM v0.2 C1QBP Zornitza Stark Classified gene: C1QBP as Green List (high evidence)
Hypertrophic cardiomyopathy_HCM v0.2 C1QBP Zornitza Stark Gene: c1qbp has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy_HCM v0.1 C1QBP Zornitza Stark gene: C1QBP was added
gene: C1QBP was added to Hypertrophic cardiomyopathy_VCGS. Sources: Expert list
Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C1QBP were set to 28942965
Phenotypes for gene: C1QBP were set to Combined oxidative phosphorylation deficiency 33, MIM#617713
Review for gene: C1QBP was set to GREEN
Added comment: Four unrelated families reported; hypertrophic cardiomyopathy is a feature of the condition.
Sources: Expert list
Cardiomyopathy_Adult_SuperPanel v0.0 Zornitza Stark Added Panel Cardiomyopathy_SuperPanel_VCGS
Set child panels to: Left ventricular non-compaction cardiomyopathy_VCGS; Dilated cardiomyopathy_VCGS; Hypertrophic cardiomyopathy_VCGS; Arrhythmogenic right ventricular cardiomyopathy_VCGS
Set panel types to: Superpanel
Proteinuria v0.3 LAMA5 Zornitza Stark Marked gene: LAMA5 as ready
Proteinuria v0.3 LAMA5 Zornitza Stark Gene: lama5 has been classified as Green List (High Evidence).
Proteinuria v0.3 LAMA5 Zornitza Stark Phenotypes for gene: LAMA5 were changed from to Nephrotic syndrome
Proteinuria v0.2 LAMA5 Zornitza Stark Publications for gene: LAMA5 were set to
Proteinuria v0.1 LAMA5 Zornitza Stark Mode of inheritance for gene: LAMA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.0 LAMA5 Belinda Chong reviewed gene: LAMA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 29534211; Phenotypes: Nephrotic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.302 POLR2A Sue White Marked gene: POLR2A as ready
Mendeliome v0.302 POLR2A Sue White Gene: polr2a has been classified as Green List (High Evidence).
Mendeliome v0.302 POLR2A Sue White Classified gene: POLR2A as Green List (high evidence)
Mendeliome v0.302 POLR2A Sue White Gene: polr2a has been classified as Green List (High Evidence).
Mendeliome v0.301 POLR2A Sue White gene: POLR2A was added
gene: POLR2A was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: POLR2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR2A were set to 31353023
Phenotypes for gene: POLR2A were set to Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, MIM# 618603
Mode of pathogenicity for gene: POLR2A was set to Other
Review for gene: POLR2A was set to GREEN
Added comment: 11 unrelated individuals reported with de novo variants in this gene. Missense variants postulated to exert a dominant-negative effect; LoF variants by contrast resulted in milder phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1393 POLR2A Sue White Marked gene: POLR2A as ready
Intellectual disability syndromic and non-syndromic v0.1393 POLR2A Sue White Gene: polr2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1393 POLR2A Sue White Classified gene: POLR2A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1393 POLR2A Sue White Gene: polr2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1392 POLR2A Sue White gene: POLR2A was added
gene: POLR2A was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: POLR2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR2A were set to 31353023
Phenotypes for gene: POLR2A were set to Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, MIM# 618603
Mode of pathogenicity for gene: POLR2A was set to Other
Review for gene: POLR2A was set to GREEN
Added comment: 11 unrelated individuals reported with de novo variants in this gene. Missense variants postulated to exert a dominant-negative effect; LoF variants by contrast resulted in milder phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1391 GNAI1 Zornitza Stark Marked gene: GNAI1 as ready
Intellectual disability syndromic and non-syndromic v0.1391 GNAI1 Zornitza Stark Gene: gnai1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1391 GNAI1 Zornitza Stark Publications for gene: GNAI1 were set to
Intellectual disability syndromic and non-syndromic v0.1390 GNAI1 Zornitza Stark Phenotypes for gene: GNAI1 were changed from to Intellectual disability
Intellectual disability syndromic and non-syndromic v0.1389 GNAI1 Zornitza Stark Mode of inheritance for gene: GNAI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1388 GNAI1 Zornitza Stark reviewed gene: GNAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28135719; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.300 PAK1 Zornitza Stark Marked gene: PAK1 as ready
Mendeliome v0.300 PAK1 Zornitza Stark Gene: pak1 has been classified as Green List (High Evidence).
Mendeliome v0.300 PAK1 Zornitza Stark Classified gene: PAK1 as Green List (high evidence)
Mendeliome v0.300 PAK1 Zornitza Stark Gene: pak1 has been classified as Green List (High Evidence).
Mendeliome v0.299 PAK1 Zornitza Stark gene: PAK1 was added
gene: PAK1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAK1 were set to 31504246; 30290153
Phenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay; OMIM #618158
Review for gene: PAK1 was set to GREEN
Added comment: 2 unrelated individuals with de novo PAK1 mutations, with developmental delay, secondary macrocephaly, seizures, and ataxic gait. Enhanced phosphorylation of the PAK1 targets JNK and AKT shown in fibroblasts of one subject and of c-JUN in those of both subjects compared with control subjects. In fibroblasts of the 2 affected individuals, they observed a trend toward enhanced PAK1 kinase activity. By using co-immunoprecipitation and size-exclusion chromatography, they observed a significantly reduced dimerization for both PAK1 mutants compared with wild-type PAK1.

4 unrelated individuals with intellectual disability, macrocephaly and seizures, with de novo heterozygous missense variants in PAK1.
Sources: Literature
Mendeliome v0.298 P4HTM Zornitza Stark Marked gene: P4HTM as ready
Mendeliome v0.298 P4HTM Zornitza Stark Gene: p4htm has been classified as Green List (High Evidence).
Mendeliome v0.298 P4HTM Zornitza Stark Classified gene: P4HTM as Green List (high evidence)
Mendeliome v0.298 P4HTM Zornitza Stark Gene: p4htm has been classified as Green List (High Evidence).
Mendeliome v0.297 P4HTM Zornitza Stark gene: P4HTM was added
gene: P4HTM was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: P4HTM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: P4HTM were set to 25078763; 30940925
Phenotypes for gene: P4HTM were set to Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities; OMIM #618493
Review for gene: P4HTM was set to GREEN
Added comment: 12 patients from 5 families with hypotonia, intellectual disability, and eye abnormalities, and homozygous or compound heterozygous pathogenic P4HTM gene variants. Segregated with the disorder in the families. In vitro functional expression studies of 3 of the P4HTM variants showed that they caused a significant decrease in the amount of soluble protein compared to wildtype.
Sources: Literature
Mendeliome v0.296 NLGN1 Zornitza Stark Marked gene: NLGN1 as ready
Mendeliome v0.296 NLGN1 Zornitza Stark Gene: nlgn1 has been classified as Red List (Low Evidence).
Mendeliome v0.296 NLGN1 Zornitza Stark gene: NLGN1 was added
gene: NLGN1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NLGN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NLGN1 were set to 30460678
Phenotypes for gene: NLGN1 were set to intellectual disability; autism
Review for gene: NLGN1 was set to RED
Added comment: homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism. Segregated with disease. No functional studies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1388 NLGN1 Zornitza Stark Marked gene: NLGN1 as ready
Intellectual disability syndromic and non-syndromic v0.1388 NLGN1 Zornitza Stark Gene: nlgn1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1388 NLGN1 Zornitza Stark Phenotypes for gene: NLGN1 were changed from no OMIM number yet to Intellectual disability; autism; no OMIM number yet
Mendeliome v0.295 NFASC Zornitza Stark Marked gene: NFASC as ready
Mendeliome v0.295 NFASC Zornitza Stark Gene: nfasc has been classified as Green List (High Evidence).
Mendeliome v0.295 NFASC Zornitza Stark Classified gene: NFASC as Green List (high evidence)
Mendeliome v0.295 NFASC Zornitza Stark Gene: nfasc has been classified as Green List (High Evidence).
Mendeliome v0.294 NFASC Zornitza Stark gene: NFASC was added
gene: NFASC was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NFASC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFASC were set to 31501903; 28940097; 30124836; 30850329; 31608123
Phenotypes for gene: NFASC were set to Neurodevelopmental disorder with central and peripheral motor dysfunction; OMIM #618356
Review for gene: NFASC was set to GREEN
Added comment: > 10 unrelated families reported, exhibiting a neurodevelopmental disorder (intellectual disability, developmental delay, motor impairment, speech difficulties, early onset demyelinating neuropathy), with homozygous variants in NFASC. Segregated with the disorder in the family. Some studies with functional evidence.
Sources: Literature
Microcephaly v0.39 NCAPD2 Zornitza Stark Phenotypes for gene: NCAPD2 were changed from Microcephaly 21, primary, autosomal recessive; OMIM #617983 to Microcephaly 21, primary, autosomal recessive; OMIM #617983
Microcephaly v0.39 NCAPD2 Zornitza Stark Marked gene: NCAPD2 as ready
Microcephaly v0.39 NCAPD2 Zornitza Stark Gene: ncapd2 has been classified as Green List (High Evidence).
Microcephaly v0.39 NCAPD2 Zornitza Stark Phenotypes for gene: NCAPD2 were changed from to Microcephaly 21, primary, autosomal recessive; OMIM #617983
Microcephaly v0.38 NCAPD2 Zornitza Stark Mode of inheritance for gene: NCAPD2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.37 NCAPD2 Zornitza Stark Publications for gene: NCAPD2 were set to
Microcephaly v0.37 NCAPD2 Zornitza Stark Mode of inheritance for gene: NCAPD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.36 NCAPD2 Zornitza Stark reviewed gene: NCAPD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31056748, 27737959, 28097321; Phenotypes: Microcephaly 21, primary, autosomal recessive, OMIM #617983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.293 NCAPD2 Zornitza Stark Marked gene: NCAPD2 as ready
Mendeliome v0.293 NCAPD2 Zornitza Stark Gene: ncapd2 has been classified as Green List (High Evidence).
Mendeliome v0.293 NCAPD2 Zornitza Stark Phenotypes for gene: NCAPD2 were changed from to Microcephaly 21, primary, autosomal recessive; OMIM #617983
Mendeliome v0.292 NCAPD2 Zornitza Stark Publications for gene: NCAPD2 were set to
Mendeliome v0.291 NCAPD2 Zornitza Stark Mode of inheritance for gene: NCAPD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.290 NCAPD2 Zornitza Stark reviewed gene: NCAPD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31056748, 27737959, 28097321; Phenotypes: Microcephaly 21, primary, autosomal recessive, OMIM #617983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1387 NCAPD2 Zornitza Stark Marked gene: NCAPD2 as ready
Intellectual disability syndromic and non-syndromic v0.1387 NCAPD2 Zornitza Stark Added comment: Comment when marking as ready: Three families, upgraded to Green.
Intellectual disability syndromic and non-syndromic v0.1387 NCAPD2 Zornitza Stark Gene: ncapd2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1387 NCAPD2 Zornitza Stark Classified gene: NCAPD2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1387 NCAPD2 Zornitza Stark Gene: ncapd2 has been classified as Green List (High Evidence).
Mendeliome v0.290 MEPCE Zornitza Stark Marked gene: MEPCE as ready
Mendeliome v0.290 MEPCE Zornitza Stark Gene: mepce has been classified as Red List (Low Evidence).
Mendeliome v0.290 MEPCE Zornitza Stark gene: MEPCE was added
gene: MEPCE was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: MEPCE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MEPCE were set to 31467394
Phenotypes for gene: MEPCE were set to Intellectual disability; seizures
Review for gene: MEPCE was set to RED
Added comment: 1 patient with global DD and seizures with de novo MEPCE nonsense variant. mRNA and protein analyses identified nonsense-mediated mRNA decay to underlie the decreased amount of MEPCE in patient fibroblasts followed by LARP7 and 7SK snRNA downregulation and HEXIM1 upregulation. Flavopiridol treatment and ectopic MEPCE protein expression in patient fibroblasts rescued increased expression of six RNAP II-sensitive genes and suggested a possible repressive effect of MEPCE on P-TEFb-dependent transcription of specific genes.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1386 MEPCE Zornitza Stark Marked gene: MEPCE as ready
Intellectual disability syndromic and non-syndromic v0.1386 MEPCE Zornitza Stark Gene: mepce has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1386 MEPCE Zornitza Stark Phenotypes for gene: MEPCE were changed from no OMIM number yet to Intellectual disability; seizures; no OMIM number yet
Callosome v0.42 MAST1 Zornitza Stark Marked gene: MAST1 as ready
Callosome v0.42 MAST1 Zornitza Stark Gene: mast1 has been classified as Green List (High Evidence).
Callosome v0.42 MAST1 Zornitza Stark Classified gene: MAST1 as Green List (high evidence)
Callosome v0.42 MAST1 Zornitza Stark Gene: mast1 has been classified as Green List (High Evidence).
Callosome v0.41 MAST1 Zornitza Stark gene: MAST1 was added
gene: MAST1 was added to Callosome_VCGS. Sources: Literature
Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAST1 were set to 31721002; 30449657
Phenotypes for gene: MAST1 were set to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations; OMIM #618273
Review for gene: MAST1 was set to GREEN
Added comment: 6 unrelated patients with mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) with de novo heterozygous mutations in MAST1 gene. In vitro functional studies showed that 1 of the variants (lys276del) increased MAST1 binding to microtubules compared to controls. Mutant mice heterozygous for a Mast1 leu278del allele showed a thicker corpus callosum compared to wildtype, and an overall reduction in cortical volume and thickness and decreased cerebellar volume and number of granule and Purkinje cells due to increased apoptosis compared to controls.

1 Emirati patient with ID, microcephaly, and dysmorphic features, with missense variant in MAST1.
Sources: Literature
Mendeliome v0.289 MAST1 Zornitza Stark Marked gene: MAST1 as ready
Mendeliome v0.289 MAST1 Zornitza Stark Gene: mast1 has been classified as Green List (High Evidence).
Mendeliome v0.289 MAST1 Zornitza Stark Classified gene: MAST1 as Green List (high evidence)
Mendeliome v0.289 MAST1 Zornitza Stark Gene: mast1 has been classified as Green List (High Evidence).
Mendeliome v0.288 MAST1 Zornitza Stark gene: MAST1 was added
gene: MAST1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAST1 were set to 31721002; 30449657
Phenotypes for gene: MAST1 were set to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations; OMIM #618273
Review for gene: MAST1 was set to GREEN
Added comment: 6 unrelated patients with mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) with de novo heterozygous mutations in MAST1 gene. In vitro functional studies showed that 1 of the variants (lys276del) increased MAST1 binding to microtubules compared to controls. Mutant mice heterozygous for a Mast1 leu278del allele showed a thicker corpus callosum compared to wildtype, and an overall reduction in cortical volume and thickness and decreased cerebellar volume and number of granule and Purkinje cells due to increased apoptosis compared to controls.

1 Emirati patient with ID, microcephaly, and dysmorphic features, with missense variant in MAST1.
Sources: Literature
Mendeliome v0.287 MACROD2 Zornitza Stark Marked gene: MACROD2 as ready
Mendeliome v0.287 MACROD2 Zornitza Stark Gene: macrod2 has been classified as Red List (Low Evidence).
Mendeliome v0.287 MACROD2 Zornitza Stark gene: MACROD2 was added
gene: MACROD2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: MACROD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MACROD2 were set to 31055587
Phenotypes for gene: MACROD2 were set to intellectual disability; dysmorphic features; microcephaly
Review for gene: MACROD2 was set to RED
Added comment: 1 family with a few affected with microcephaly, ID, dysmorphic features, and polydactyly. Deletion of chromosome 20p12.1 involving the MACROD2 gene was found in several members of the family. qRT-PCR showed higher levels of a MACROD2 mRNA isoform in the individuals carrying the deletion.
Sources: Literature
Mendeliome v0.286 LSS Zornitza Stark Marked gene: LSS as ready
Mendeliome v0.286 LSS Zornitza Stark Gene: lss has been classified as Green List (High Evidence).
Mendeliome v0.286 LSS Zornitza Stark Classified gene: LSS as Green List (high evidence)
Mendeliome v0.286 LSS Zornitza Stark Gene: lss has been classified as Green List (High Evidence).
Mendeliome v0.285 LSS Zornitza Stark gene: LSS was added
gene: LSS was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSS were set to 30723320
Phenotypes for gene: LSS were set to Cataract 44, OMIM #616509; Hypotrichosis 14, OMIM #618275; Intellectual disability
Review for gene: LSS was set to GREEN
Added comment: Expanded the phenotypic spectrum of LSS to a recessive neuroectodermal syndrome formerly named alopecia with mental retardation (APMR) syndrome. Ten APMR individuals from 6 unrelated families with biallelic variants in LSS. Quantification of cholesterol and its precursors did not reveal noticeable imbalance.
Sources: Literature
Mendeliome v0.284 LSM1 Zornitza Stark Marked gene: LSM1 as ready
Mendeliome v0.284 LSM1 Zornitza Stark Gene: lsm1 has been classified as Red List (Low Evidence).
Mendeliome v0.284 LSM1 Zornitza Stark gene: LSM1 was added
gene: LSM1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: LSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM1 were set to 31010896
Phenotypes for gene: LSM1 were set to intellectual disability; congenital abnormalities
Review for gene: LSM1 was set to RED
Added comment: 1 family with 2 siblings with global DD, multiple congenital anomalies, and abnormal eye movements, with homozygous splice variant in LSM1. Segregated with the phenotype in the family. Expression studies revealed absence of expression of the canonical isoform in the affected individuals. The Lsm1 knockout mice have a partially overlapping phenotype that affects the brain, heart, and eye.
Sources: Literature
Mendeliome v0.283 LMAN2L Zornitza Stark Marked gene: LMAN2L as ready
Mendeliome v0.283 LMAN2L Zornitza Stark Gene: lman2l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.283 LMAN2L Zornitza Stark Classified gene: LMAN2L as Amber List (moderate evidence)
Mendeliome v0.283 LMAN2L Zornitza Stark Gene: lman2l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.282 LMAN2L Zornitza Stark gene: LMAN2L was added
gene: LMAN2L was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: LMAN2L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LMAN2L were set to 31020005; 26566883
Phenotypes for gene: LMAN2L were set to Mental retardation, autosomal recessive, 52; OMIM #616887
Review for gene: LMAN2L was set to AMBER
Added comment: 1 consanguineous family with 7 individuals with ID and epilepsy, with homozygous LMAN2L missense mutation. Segregated with disease in family, and unaffected family members were heterozygous variant carriers. No functional studies.

1 non-consanguineous family with 4 affected with heterozygous frameshift LMAN2L mutation. Segregates in family. Mutation eliminates LMAN2L's endoplasmic reticulum retention signal and mislocalizes the protein from that compartment to the plasma membrane.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1385 LMAN2L Zornitza Stark Marked gene: LMAN2L as ready
Intellectual disability syndromic and non-syndromic v0.1385 LMAN2L Zornitza Stark Gene: lman2l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.281 KDM3B Zornitza Stark gene: KDM3B was added
gene: KDM3B was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM3B were set to 30929739
Phenotypes for gene: KDM3B were set to Intellectual disability; dysmorphic features; short stature
Review for gene: KDM3B was set to GREEN
Added comment: 14 unrelated individuals and 3 affected parents with varying degrees of ID, DD, short stature, dysmorphism, and de novo or inherited pathogenic variants in KDM3B. No functional studies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1385 KDM3B Zornitza Stark Phenotypes for gene: KDM3B were changed from no OMIM number yet to Intellectual disability; dysmorphic features; short stature; no OMIM number yet
Intellectual disability syndromic and non-syndromic v0.1384 GTF2E2 Zornitza Stark Marked gene: GTF2E2 as ready
Intellectual disability syndromic and non-syndromic v0.1384 GTF2E2 Zornitza Stark Added comment: Comment when marking as ready: Two unrelated families with functional data, upgrade to Green.
Intellectual disability syndromic and non-syndromic v0.1384 GTF2E2 Zornitza Stark Gene: gtf2e2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1384 GTF2E2 Zornitza Stark Classified gene: GTF2E2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1384 GTF2E2 Zornitza Stark Gene: gtf2e2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.34 GRIA2 Zornitza Stark Marked gene: GRIA2 as ready
Genetic Epilepsy v0.34 GRIA2 Zornitza Stark Gene: gria2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.34 GRIA2 Zornitza Stark Classified gene: GRIA2 as Green List (high evidence)
Genetic Epilepsy v0.34 GRIA2 Zornitza Stark Gene: gria2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.33 GRIA2 Zornitza Stark gene: GRIA2 was added
gene: GRIA2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: GRIA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIA2 were set to 31300657
Phenotypes for gene: GRIA2 were set to Intellectual disability; autism; Rett-like features; epileptic encephalopathy
Review for gene: GRIA2 was set to GREEN
Added comment: 28 unrelated patients with ID, ASD, Rett-like features, seizures/EE, and de novo heterozygous GRIA2 mutations. In functional expression studies, mutations led to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification.
Sources: Literature
Mendeliome v0.280 GRIA2 Zornitza Stark Marked gene: GRIA2 as ready
Mendeliome v0.280 GRIA2 Zornitza Stark Gene: gria2 has been classified as Green List (High Evidence).
Mendeliome v0.280 GRIA2 Zornitza Stark Classified gene: GRIA2 as Green List (high evidence)
Mendeliome v0.280 GRIA2 Zornitza Stark Gene: gria2 has been classified as Green List (High Evidence).
Mendeliome v0.279 GRIA2 Zornitza Stark gene: GRIA2 was added
gene: GRIA2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: GRIA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIA2 were set to 31300657
Phenotypes for gene: GRIA2 were set to Intellectual disability; autism; Rett-like features; epileptic encephalopathy
Review for gene: GRIA2 was set to GREEN
Added comment: 28 unrelated patients with ID, ASD, Rett-like features, seizures/EE, and de novo heterozygous GRIA2 mutations. In functional expression studies, mutations led to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification.
Sources: Literature
Mendeliome v0.278 ADGRG6 Zornitza Stark Marked gene: ADGRG6 as ready
Mendeliome v0.278 ADGRG6 Zornitza Stark Added comment: Comment when marking as ready: 1 family with 2 patients with profound ID, severe speech impairment, microcephaly, seizures, spasticity, and cerebellar hypoplasia, with homozygous missense variation in ADGRG6 (GPR126). No functional studies.
Mendeliome v0.278 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Red List (Low Evidence).
Mendeliome v0.278 ADGRG6 Zornitza Stark Phenotypes for gene: ADGRG6 were changed from to Lethal congenital contracture syndrome 9; OMIM #616503
Mendeliome v0.277 ADGRG6 Zornitza Stark Publications for gene: ADGRG6 were set to
Mendeliome v0.276 ADGRG6 Zornitza Stark Mode of pathogenicity for gene: ADGRG6 was changed from to None
Mendeliome v0.276 ADGRG6 Zornitza Stark Mode of inheritance for gene: ADGRG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.275 ADGRG6 Zornitza Stark Classified gene: ADGRG6 as Red List (low evidence)
Mendeliome v0.275 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Red List (Low Evidence).
Arthrogryposis v0.11 ADGRG6 Zornitza Stark Marked gene: ADGRG6 as ready
Arthrogryposis v0.11 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Red List (Low Evidence).
Arthrogryposis v0.11 ADGRG6 Zornitza Stark Phenotypes for gene: ADGRG6 were changed from to Lethal congenital contracture syndrome 9; OMIM #616503
Arthrogryposis v0.10 ADGRG6 Zornitza Stark Publications for gene: ADGRG6 were set to
Arthrogryposis v0.9 ADGRG6 Zornitza Stark Mode of inheritance for gene: ADGRG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.8 ADGRG6 Zornitza Stark Classified gene: ADGRG6 as Red List (low evidence)
Arthrogryposis v0.8 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Red List (Low Evidence).
Arthrogryposis v0.7 ADGRG6 Zornitza Stark reviewed gene: ADGRG6: Rating: RED; Mode of pathogenicity: None; Publications: 30549416; Phenotypes: Lethal congenital contracture syndrome 9, OMIM #616503; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1383 ADGRG6 Zornitza Stark Marked gene: ADGRG6 as ready
Intellectual disability syndromic and non-syndromic v0.1383 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.32 GABRA5 Zornitza Stark Marked gene: GABRA5 as ready
Genetic Epilepsy v0.32 GABRA5 Zornitza Stark Gene: gabra5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.32 GABRA5 Zornitza Stark Classified gene: GABRA5 as Green List (high evidence)
Genetic Epilepsy v0.32 GABRA5 Zornitza Stark Gene: gabra5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.31 GABRA5 Zornitza Stark gene: GABRA5 was added
gene: GABRA5 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: GABRA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRA5 were set to 31056671; 29961870
Phenotypes for gene: GABRA5 were set to Epileptic encephalopathy, early infantile, 79; OMIM #618559
Review for gene: GABRA5 was set to GREEN
Added comment: 3 unrelated patients with de novo heterozygous missense mutations in GABRA5 gene. In vitro functional expression studies in HEK293 cells showed that the mutant subunit was expressed at the surface and incorporated into the channel, but the mutant channel was 10 times more sensitive to GABA compared to wildtype. This increased sensitization resulted in increased receptor desensitization to GABA, with a reduced maximal GABA-evoked current and impaired capacity to pass GABAergic chloride current.
Sources: Literature
Mendeliome v0.274 GABRA5 Zornitza Stark Marked gene: GABRA5 as ready
Mendeliome v0.274 GABRA5 Zornitza Stark Gene: gabra5 has been classified as Green List (High Evidence).
Mendeliome v0.274 GABRA5 Zornitza Stark Classified gene: GABRA5 as Green List (high evidence)
Mendeliome v0.274 GABRA5 Zornitza Stark Gene: gabra5 has been classified as Green List (High Evidence).
Mendeliome v0.273 GABRA5 Zornitza Stark gene: GABRA5 was added
gene: GABRA5 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: GABRA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRA5 were set to 31056671; 29961870
Phenotypes for gene: GABRA5 were set to Epileptic encephalopathy, early infantile, 79; OMIM #618559
Review for gene: GABRA5 was set to GREEN
Added comment: 3 unrelated patients with de novo heterozygous missense mutations in GABRA5 gene. In vitro functional expression studies in HEK293 cells showed that the mutant subunit was expressed at the surface and incorporated into the channel, but the mutant channel was 10 times more sensitive to GABA compared to wildtype. This increased sensitization resulted in increased receptor desensitization to GABA, with a reduced maximal GABA-evoked current and impaired capacity to pass GABAergic chloride current.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1383 FRY Zornitza Stark Marked gene: FRY as ready
Intellectual disability syndromic and non-syndromic v0.1383 FRY Zornitza Stark Gene: fry has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1383 FRY Zornitza Stark Phenotypes for gene: FRY were changed from no OMIM number yet to Intellectual disability; no OMIM number yet
Mendeliome v0.272 FRY Zornitza Stark Marked gene: FRY as ready
Mendeliome v0.272 FRY Zornitza Stark Gene: fry has been classified as Amber List (Moderate Evidence).
Mendeliome v0.272 FRY Zornitza Stark Classified gene: FRY as Amber List (moderate evidence)
Mendeliome v0.272 FRY Zornitza Stark Gene: fry has been classified as Amber List (Moderate Evidence).
Mendeliome v0.271 FRY Zornitza Stark gene: FRY was added
gene: FRY was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: FRY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRY were set to 31487712; 27457812; 21937992
Phenotypes for gene: FRY were set to Intellectual disability
Review for gene: FRY was set to AMBER
Added comment: 1 patient with ID/DD and a novel homozygous deletion involving FRY gene identified by genomic SNP microarray. No functional evidence.

2 consanguineous families with 6 affected individuals with ID, and homozygous mutations of FRY. No functional evidence.
Sources: Literature
Mendeliome v0.270 FBXL3 Zornitza Stark Marked gene: FBXL3 as ready
Mendeliome v0.270 FBXL3 Zornitza Stark Gene: fbxl3 has been classified as Green List (High Evidence).
Mendeliome v0.270 FBXL3 Zornitza Stark Classified gene: FBXL3 as Green List (high evidence)
Mendeliome v0.270 FBXL3 Zornitza Stark Gene: fbxl3 has been classified as Green List (High Evidence).
Mendeliome v0.269 FBXL3 Zornitza Stark gene: FBXL3 was added
gene: FBXL3 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: FBXL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXL3 were set to 30481285
Phenotypes for gene: FBXL3 were set to Intellectual developmental disorder with short stature, facial anomalies, and speech defects; OMIM #606220
Review for gene: FBXL3 was set to GREEN
Added comment: Three unrelated families, multiple affected individuals.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1382 FBXL3 Zornitza Stark Marked gene: FBXL3 as ready
Intellectual disability syndromic and non-syndromic v0.1382 FBXL3 Zornitza Stark Added comment: Comment when marking as ready: Three families, all different variants, promote to green.
Intellectual disability syndromic and non-syndromic v0.1382 FBXL3 Zornitza Stark Gene: fbxl3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1382 FBXL3 Zornitza Stark Classified gene: FBXL3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1382 FBXL3 Zornitza Stark Gene: fbxl3 has been classified as Green List (High Evidence).
Mendeliome v0.268 ETS1 Zornitza Stark Marked gene: ETS1 as ready
Mendeliome v0.268 ETS1 Zornitza Stark Gene: ets1 has been classified as Red List (Low Evidence).
Mendeliome v0.268 ETS1 Zornitza Stark gene: ETS1 was added
gene: ETS1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ETS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ETS1 were set to 31160359
Phenotypes for gene: ETS1 were set to Intellectual disability
Review for gene: ETS1 was set to RED
Added comment: Single individual with de novo truncating variant in this gene; gene is Jacobsen syndrome critical region.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1379 ETS1 Zornitza Stark Marked gene: ETS1 as ready
Intellectual disability syndromic and non-syndromic v0.1379 ETS1 Zornitza Stark Gene: ets1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1379 ETS1 Zornitza Stark gene: ETS1 was added
gene: ETS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ETS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ETS1 were set to 31160359
Phenotypes for gene: ETS1 were set to Intellectual disability
Review for gene: ETS1 was set to RED
Added comment: Single individual with de novo truncating variant in this gene; gene is Jacobsen syndrome critical region.
Sources: Literature
Mendeliome v0.267 ELMOD1 Zornitza Stark Marked gene: ELMOD1 as ready
Mendeliome v0.267 ELMOD1 Zornitza Stark Gene: elmod1 has been classified as Red List (Low Evidence).
Mendeliome v0.267 ELMOD1 Zornitza Stark gene: ELMOD1 was added
gene: ELMOD1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ELMOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELMOD1 were set to 31327155
Phenotypes for gene: ELMOD1 were set to Intellectual disability
Review for gene: ELMOD1 was set to RED
Added comment: Single family reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1378 ELMOD1 Zornitza Stark Marked gene: ELMOD1 as ready
Intellectual disability syndromic and non-syndromic v0.1378 ELMOD1 Zornitza Stark Gene: elmod1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1378 ELMOD1 Zornitza Stark gene: ELMOD1 was added
gene: ELMOD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ELMOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELMOD1 were set to 31327155
Phenotypes for gene: ELMOD1 were set to Intellectual disability
Review for gene: ELMOD1 was set to RED
Added comment: Single family reported.
Sources: Literature
Mendeliome v0.266 EEF1D Zornitza Stark Marked gene: EEF1D as ready
Mendeliome v0.266 EEF1D Zornitza Stark Gene: eef1d has been classified as Amber List (Moderate Evidence).
Mendeliome v0.266 EEF1D Zornitza Stark Classified gene: EEF1D as Amber List (moderate evidence)
Mendeliome v0.266 EEF1D Zornitza Stark Gene: eef1d has been classified as Amber List (Moderate Evidence).
Mendeliome v0.265 EEF1D Zornitza Stark gene: EEF1D was added
gene: EEF1D was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: EEF1D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEF1D were set to 30787422; 28097321
Phenotypes for gene: EEF1D were set to Intellectual disability
Review for gene: EEF1D was set to AMBER
Added comment: Two unrelated families reported; one as part of a very large cohort of consanguineous families reporting multiple new candidate genes. No functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1377 EEF1D Zornitza Stark Marked gene: EEF1D as ready
Intellectual disability syndromic and non-syndromic v0.1377 EEF1D Zornitza Stark Gene: eef1d has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1377 EEF1D Zornitza Stark Classified gene: EEF1D as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1377 EEF1D Zornitza Stark Gene: eef1d has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1376 EEF1D Zornitza Stark gene: EEF1D was added
gene: EEF1D was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: EEF1D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEF1D were set to 30787422; 28097321
Phenotypes for gene: EEF1D were set to Intellectual disability
Review for gene: EEF1D was set to AMBER
Added comment: Two unrelated families reported; one as part of a very large cohort of consanguineous families reporting multiple new candidate genes. No functional data.
Sources: Literature
Microcephaly v0.36 DYNC1I2 Zornitza Stark Marked gene: DYNC1I2 as ready
Microcephaly v0.36 DYNC1I2 Zornitza Stark Gene: dync1i2 has been classified as Green List (High Evidence).
Microcephaly v0.36 DYNC1I2 Zornitza Stark Classified gene: DYNC1I2 as Green List (high evidence)
Microcephaly v0.36 DYNC1I2 Zornitza Stark Gene: dync1i2 has been classified as Green List (High Evidence).
Microcephaly v0.35 DYNC1I2 Zornitza Stark gene: DYNC1I2 was added
gene: DYNC1I2 was added to Microcephaly_VCGS. Sources: Literature
Mode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC1I2 were set to 31079899
Phenotypes for gene: DYNC1I2 were set to Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492
Review for gene: DYNC1I2 was set to GREEN
Added comment: Five individuals from three unrelated families reported.
Sources: Literature
Mendeliome v0.264 DYNC1I2 Zornitza Stark Marked gene: DYNC1I2 as ready
Mendeliome v0.264 DYNC1I2 Zornitza Stark Gene: dync1i2 has been classified as Green List (High Evidence).
Mendeliome v0.264 DYNC1I2 Zornitza Stark Classified gene: DYNC1I2 as Green List (high evidence)
Mendeliome v0.264 DYNC1I2 Zornitza Stark Gene: dync1i2 has been classified as Green List (High Evidence).
Mendeliome v0.263 DYNC1I2 Zornitza Stark gene: DYNC1I2 was added
gene: DYNC1I2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC1I2 were set to 31079899
Phenotypes for gene: DYNC1I2 were set to Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492
Review for gene: DYNC1I2 was set to GREEN
Added comment: Five individuals from three unrelated families reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1375 DYNC1I2 Zornitza Stark Marked gene: DYNC1I2 as ready
Intellectual disability syndromic and non-syndromic v0.1375 DYNC1I2 Zornitza Stark Gene: dync1i2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1375 DYNC1I2 Zornitza Stark Classified gene: DYNC1I2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1375 DYNC1I2 Zornitza Stark Gene: dync1i2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1374 DYNC1I2 Zornitza Stark gene: DYNC1I2 was added
gene: DYNC1I2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC1I2 were set to 31079899
Phenotypes for gene: DYNC1I2 were set to Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492
Review for gene: DYNC1I2 was set to GREEN
Added comment: Five individuals from three unrelated families reported.
Sources: Literature
Mendeliome v0.262 DTYMK Zornitza Stark Marked gene: DTYMK as ready
Mendeliome v0.262 DTYMK Zornitza Stark Gene: dtymk has been classified as Red List (Low Evidence).
Mendeliome v0.262 DTYMK Zornitza Stark gene: DTYMK was added
gene: DTYMK was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: DTYMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DTYMK were set to 31271740
Phenotypes for gene: DTYMK were set to Intellectual disability; microcephaly
Review for gene: DTYMK was set to RED
Added comment: Single family, two affected sibs with compound het variants reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1373 DTYMK Zornitza Stark Marked gene: DTYMK as ready
Intellectual disability syndromic and non-syndromic v0.1373 DTYMK Zornitza Stark Gene: dtymk has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1373 DTYMK Zornitza Stark gene: DTYMK was added
gene: DTYMK was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: DTYMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DTYMK were set to 31271740
Phenotypes for gene: DTYMK were set to Intellectual disability; microcephaly
Review for gene: DTYMK was set to RED
Added comment: Single family, two affected sibs with compound het variants reported.
Sources: Literature
Mendeliome v0.261 DNAJA1 Zornitza Stark Marked gene: DNAJA1 as ready
Mendeliome v0.261 DNAJA1 Zornitza Stark Gene: dnaja1 has been classified as Red List (Low Evidence).
Mendeliome v0.261 DNAJA1 Zornitza Stark gene: DNAJA1 was added
gene: DNAJA1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: DNAJA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJA1 were set to 30972502
Phenotypes for gene: DNAJA1 were set to Intellectual disability; seizures
Review for gene: DNAJA1 was set to RED
Added comment: Single family with multiple affected individuals reported with bi-allelic truncating variant in this gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1372 DNAJA1 Zornitza Stark Marked gene: DNAJA1 as ready
Intellectual disability syndromic and non-syndromic v0.1372 DNAJA1 Zornitza Stark Gene: dnaja1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1372 DNAJA1 Zornitza Stark gene: DNAJA1 was added
gene: DNAJA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: DNAJA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJA1 were set to 30972502
Phenotypes for gene: DNAJA1 were set to Intellectual disability; seizures
Review for gene: DNAJA1 was set to RED
Added comment: Single family with multiple affected individuals reported with bi-allelic truncating variant in this gene.
Sources: Literature
Mendeliome v0.260 DLL1 Zornitza Stark Marked gene: DLL1 as ready
Mendeliome v0.260 DLL1 Zornitza Stark Gene: dll1 has been classified as Green List (High Evidence).
Mendeliome v0.260 DLL1 Zornitza Stark Phenotypes for gene: DLL1 were changed from to Intellectual disability; autism; seizures; variable brain abnormalities; scoliosis
Mendeliome v0.259 DLL1 Zornitza Stark Publications for gene: DLL1 were set to
Mendeliome v0.258 DLL1 Zornitza Stark Mode of inheritance for gene: DLL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.257 DLL1 Zornitza Stark reviewed gene: DLL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31353024; Phenotypes: Intellectual disability, autism, seizures, variable brain abnormalities, scoliosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1371 DLL1 Zornitza Stark Marked gene: DLL1 as ready
Intellectual disability syndromic and non-syndromic v0.1371 DLL1 Zornitza Stark Gene: dll1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1371 DLL1 Zornitza Stark Classified gene: DLL1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1371 DLL1 Zornitza Stark Gene: dll1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1370 DLL1 Zornitza Stark gene: DLL1 was added
gene: DLL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLL1 were set to 31353024
Phenotypes for gene: DLL1 were set to Intellectual disability; autism; seizures; variable brain abnormalities; scoliosis
Review for gene: DLL1 was set to GREEN
Added comment: Fifteen individuals from 12 unrelated families reported.
Sources: Literature
Mendeliome v0.257 DDX6 Zornitza Stark Marked gene: DDX6 as ready
Mendeliome v0.257 DDX6 Zornitza Stark Gene: ddx6 has been classified as Green List (High Evidence).
Mendeliome v0.257 DDX6 Zornitza Stark Classified gene: DDX6 as Green List (high evidence)
Mendeliome v0.257 DDX6 Zornitza Stark Gene: ddx6 has been classified as Green List (High Evidence).
Mendeliome v0.256 DDX6 Zornitza Stark gene: DDX6 was added
gene: DDX6 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: DDX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DDX6 were set to 31422817
Phenotypes for gene: DDX6 were set to Intellectual developmental disorder with impaired language and dysmorphic facies, MIM#618653
Review for gene: DDX6 was set to GREEN
Added comment: Five unrelated individuals reported with 5 different de novo heterozygous missense mutations in exon 11 of the DDX6 gene. All variants occurred at conserved residues in either the QxxR or V motifs within the second RecA-2 domain of the helicase core; this region is involved in RNA and/or ATP binding, suggesting functional consequences.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1369 DDX6 Zornitza Stark Marked gene: DDX6 as ready
Intellectual disability syndromic and non-syndromic v0.1369 DDX6 Zornitza Stark Gene: ddx6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1369 DDX6 Zornitza Stark Classified gene: DDX6 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1369 DDX6 Zornitza Stark Gene: ddx6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1368 DDX6 Zornitza Stark gene: DDX6 was added
gene: DDX6 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: DDX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DDX6 were set to 31422817,
Phenotypes for gene: DDX6 were set to Intellectual developmental disorder with impaired language and dysmorphic facies, MIM#618653
Review for gene: DDX6 was set to GREEN
Added comment: Five unrelated individuals reported with 5 different de novo heterozygous missense mutations in exon 11 of the DDX6 gene. All variants occurred at conserved residues in either the QxxR or V motifs within the second RecA-2 domain of the helicase core; this region is involved in RNA and/or ATP binding, suggesting functional consequences.
Sources: Literature
Genetic Epilepsy v0.30 CYFIP2 Zornitza Stark Marked gene: CYFIP2 as ready
Genetic Epilepsy v0.30 CYFIP2 Zornitza Stark Gene: cyfip2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.30 CYFIP2 Zornitza Stark Phenotypes for gene: CYFIP2 were changed from to Epileptic encephalopathy, early infantile, 65, MIM#618008
Genetic Epilepsy v0.29 CYFIP2 Zornitza Stark Mode of inheritance for gene: CYFIP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.28 CYFIP2 Zornitza Stark Publications for gene: CYFIP2 were set to
Genetic Epilepsy v0.28 CYFIP2 Zornitza Stark Mode of inheritance for gene: CYFIP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.27 CYFIP2 Zornitza Stark reviewed gene: CYFIP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29534297; Phenotypes: Epileptic encephalopathy, early infantile, 65, MIM#618008; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.255 CYFIP2 Zornitza Stark Marked gene: CYFIP2 as ready
Mendeliome v0.255 CYFIP2 Zornitza Stark Gene: cyfip2 has been classified as Green List (High Evidence).
Mendeliome v0.255 CYFIP2 Zornitza Stark Phenotypes for gene: CYFIP2 were changed from to Epileptic encephalopathy, early infantile, 65, MIM#618008
Mendeliome v0.254 CYFIP2 Zornitza Stark Publications for gene: CYFIP2 were set to
Mendeliome v0.253 CYFIP2 Zornitza Stark Mode of inheritance for gene: CYFIP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.252 CYFIP2 Zornitza Stark reviewed gene: CYFIP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29534297; Phenotypes: Epileptic encephalopathy, early infantile, 65, MIM#618008; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1367 CYFIP2 Zornitza Stark Marked gene: CYFIP2 as ready
Intellectual disability syndromic and non-syndromic v0.1367 CYFIP2 Zornitza Stark Gene: cyfip2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1367 CYFIP2 Zornitza Stark Classified gene: CYFIP2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1367 CYFIP2 Zornitza Stark Gene: cyfip2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1366 CYFIP2 Zornitza Stark gene: CYFIP2 was added
gene: CYFIP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: CYFIP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYFIP2 were set to 29534297
Phenotypes for gene: CYFIP2 were set to Epileptic encephalopathy, early infantile, 65, MIM#618008
Review for gene: CYFIP2 was set to GREEN
Added comment: Four unrelated individuals with de novo variants in this gene. All variants affected the same highly conserved residue (arg87) in the DUF1394 domain.
Sources: Literature
Autism v0.11 CSDE1 Zornitza Stark Marked gene: CSDE1 as ready
Autism v0.11 CSDE1 Zornitza Stark Gene: csde1 has been classified as Green List (High Evidence).
Autism v0.11 CSDE1 Zornitza Stark Classified gene: CSDE1 as Green List (high evidence)
Autism v0.11 CSDE1 Zornitza Stark Gene: csde1 has been classified as Green List (High Evidence).
Autism v0.10 CSDE1 Zornitza Stark gene: CSDE1 was added
gene: CSDE1 was added to Autism_VCGS. Sources: Literature
Mode of inheritance for gene: CSDE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CSDE1 were set to 31579823
Phenotypes for gene: CSDE1 were set to Autism; intellectual disability; seizures; macrocephaly
Review for gene: CSDE1 was set to GREEN
Added comment: 18 families reported with high impact (stoppage/frameshift) variants in this gene. Eight de novo, eight inherited, two with undetermined inheritance. Functional data. Parents who had the variants were also affected, though generally more mildly.
Sources: Literature
Mendeliome v0.252 CSDE1 Zornitza Stark Marked gene: CSDE1 as ready
Mendeliome v0.252 CSDE1 Zornitza Stark Gene: csde1 has been classified as Green List (High Evidence).
Mendeliome v0.252 CSDE1 Zornitza Stark Classified gene: CSDE1 as Green List (high evidence)
Mendeliome v0.252 CSDE1 Zornitza Stark Gene: csde1 has been classified as Green List (High Evidence).
Mendeliome v0.251 CSDE1 Zornitza Stark gene: CSDE1 was added
gene: CSDE1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: CSDE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CSDE1 were set to 31579823
Phenotypes for gene: CSDE1 were set to Autism; intellectual disability; seizures; macrocephaly
Review for gene: CSDE1 was set to GREEN
Added comment: 18 families reported with high impact (stoppage/frameshift) variants in this gene. Eight de novo, eight inherited, two with undetermined inheritance. Functional data. Parents who had the variants were also affected, though generally more mildly.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1365 CSDE1 Zornitza Stark Marked gene: CSDE1 as ready
Intellectual disability syndromic and non-syndromic v0.1365 CSDE1 Zornitza Stark Gene: csde1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1365 CSDE1 Zornitza Stark Classified gene: CSDE1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1365 CSDE1 Zornitza Stark Gene: csde1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1364 CSDE1 Zornitza Stark gene: CSDE1 was added
gene: CSDE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: CSDE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CSDE1 were set to 31579823
Phenotypes for gene: CSDE1 were set to Autism; intellectual disability; seizures; macrocephaly
Review for gene: CSDE1 was set to GREEN
Added comment: 18 families reported with high impact (stoppage/frameshift) variants in this gene. Eight de novo, eight inherited, two with undetermined inheritance. Functional data. Parents who had the variants were also affected, though generally more mildly.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1363 FAM160B1 Chirag Patel gene: FAM160B1 was added
gene: FAM160B1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: FAM160B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM160B1 were set to PMID: 31353455; 27431290
Phenotypes for gene: FAM160B1 were set to no OMIM number yet
Review for gene: FAM160B1 was set to RED
Added comment: 1 patient with severe ID, microcephaly, behavioral abnormalities, speech problems, mild ataxia and mild facial dysmorphism, and homozygous truncating variant in FAM160B1. No functional studies.

1 family with 2 sibs with DD, ID, speech issues, and with homozygous missense variant in FAM160B1. No functional studies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1363 FAM160B1 Chirag Patel gene: FAM160B1 was added
gene: FAM160B1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: FAM160B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM160B1 were set to PMID: 31353455; 27431290
Phenotypes for gene: FAM160B1 were set to no OMIM number yet
Review for gene: FAM160B1 was set to RED
Added comment: 1 patient with severe ID, microcephaly, behavioral abnormalities, speech problems, mild ataxia and mild facial dysmorphism, and homozygous truncating variant in FAM160B1. No functional studies.

1 family with 2 sibs with DD, ID, speech issues, and with homozygous missense variant in FAM160B1. No functional studies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1362 FBXL3 Chirag Patel Classified gene: FBXL3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1362 FBXL3 Chirag Patel Gene: fbxl3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1361 FBXL3 Chirag Patel gene: FBXL3 was added
gene: FBXL3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: FBXL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXL3 were set to PubMed: 30481285
Phenotypes for gene: FBXL3 were set to Intellectual developmental disorder with short stature, facial anomalies, and speech defects; OMIM #606220
Review for gene: FBXL3 was set to AMBER
Added comment: 3 unrelated families with 8 affected individuals with ID, DD, short stature and mild facial dysmorphism, and with homozygous mutations in FBXL3. Segregated with the disorder in all 3 families. Functional studies of the variants and studies of patient cells were not performed.
Sources: Literature
Mendeliome v0.250 CNTN6 Zornitza Stark Marked gene: CNTN6 as ready
Mendeliome v0.250 CNTN6 Zornitza Stark Gene: cntn6 has been classified as Red List (Low Evidence).
Mendeliome v0.250 CNTN6 Zornitza Stark gene: CNTN6 was added
gene: CNTN6 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: CNTN6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CNTN6 were set to 30836150; 28641109; 29983269
Phenotypes for gene: CNTN6 were set to Intellectual disability; autism; Tourette syndrome; schizophrenia
Review for gene: CNTN6 was set to RED
Added comment: Conflicting evidence based on CNV data, no SNVs identified.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1360 CNTN6 Zornitza Stark Marked gene: CNTN6 as ready
Intellectual disability syndromic and non-syndromic v0.1360 CNTN6 Zornitza Stark Gene: cntn6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1360 CNTN6 Zornitza Stark gene: CNTN6 was added
gene: CNTN6 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: CNTN6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CNTN6 were set to 30836150; 28641109; 29983269
Phenotypes for gene: CNTN6 were set to Intellectual disability; autism; Tourette syndrome; schizophrenia
Review for gene: CNTN6 was set to RED
Added comment: Conflicting evidence based on CNV data, no SNVs identified.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1359 FRY Chirag Patel Classified gene: FRY as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1359 FRY Chirag Patel Gene: fry has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1358 FRY Chirag Patel gene: FRY was added
gene: FRY was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: FRY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRY were set to PMID: 31487712; 27457812; 21937992
Phenotypes for gene: FRY were set to no OMIM number yet
Review for gene: FRY was set to AMBER
Added comment: 1 patient with ID/DD and a novel homozygous deletion involving FRY gene identified by genomic SNP microarray. No functional evidence.

2 consanguineous families with 6 affected individuals with ID, and homozygous mutations of FRY. No functional evidence.
Sources: Literature
Mendeliome v0.249 CMAS Zornitza Stark Marked gene: CMAS as ready
Mendeliome v0.249 CMAS Zornitza Stark Gene: cmas has been classified as Red List (Low Evidence).
Mendeliome v0.249 CMAS Zornitza Stark gene: CMAS was added
gene: CMAS was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: CMAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CMAS were set to 31495922
Phenotypes for gene: CMAS were set to Intellectual disability
Review for gene: CMAS was set to RED
Added comment: Single family, no functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1357 CMAS Zornitza Stark Marked gene: CMAS as ready
Intellectual disability syndromic and non-syndromic v0.1357 CMAS Zornitza Stark Gene: cmas has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1357 CMAS Zornitza Stark gene: CMAS was added
gene: CMAS was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: CMAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CMAS were set to 31495922
Phenotypes for gene: CMAS were set to Intellectual disability
Review for gene: CMAS was set to RED
Added comment: Single family, no functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1356 GABRA5 Chirag Patel Marked gene: GABRA5 as ready
Intellectual disability syndromic and non-syndromic v0.1356 GABRA5 Chirag Patel Gene: gabra5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1356 GABRA5 Chirag Patel Classified gene: GABRA5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1356 GABRA5 Chirag Patel Gene: gabra5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1355 GABRA5 Chirag Patel gene: GABRA5 was added
gene: GABRA5 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: GABRA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRA5 were set to PMID: 31056671; 29961870
Phenotypes for gene: GABRA5 were set to Epileptic encephalopathy, early infantile, 79; OMIM #618559
Review for gene: GABRA5 was set to GREEN
Added comment: 3 unrelated patients with de novo heterozygous missense mutations in GABRA5 gene. In vitro functional expression studies in HEK293 cells showed that the mutant subunit was expressed at the surface and incorporated into the channel, but the mutant channel was 10 times more sensitive to GABA compared to wildtype. This increased sensitization resulted in increased receptor desensitization to GABA, with a reduced maximal GABA-evoked current and impaired capacity to pass GABAergic chloride current.
Sources: Literature
Mendeliome v0.248 CDK8 Zornitza Stark Marked gene: CDK8 as ready
Mendeliome v0.248 CDK8 Zornitza Stark Gene: cdk8 has been classified as Green List (High Evidence).
Mendeliome v0.248 CDK8 Zornitza Stark Classified gene: CDK8 as Green List (high evidence)
Mendeliome v0.248 CDK8 Zornitza Stark Gene: cdk8 has been classified as Green List (High Evidence).
Mendeliome v0.247 CDK8 Zornitza Stark gene: CDK8 was added
gene: CDK8 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: CDK8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDK8 were set to 30905399
Phenotypes for gene: CDK8 were set to Intellectual disability; dysmorphism; congenital abnormalities; seizures
Review for gene: CDK8 was set to GREEN
Added comment: 12 unrelated individuals, missense variants demonstrated as de novo in 10. All variants localize to the ATP-binding pocket of the kinase domain.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1354 ADGRG6 Chirag Patel gene: ADGRG6 was added
gene: ADGRG6 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ADGRG6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADGRG6 were set to PMID: 30549416
Phenotypes for gene: ADGRG6 were set to Lethal congenital contracture syndrome 9; OMIM #616503
Review for gene: ADGRG6 was set to RED
Added comment: 1 family with 2 patients with profound ID, severe speech impairment, microcephaly, seizures, spasticity, and cerebellar hypoplasia, with homozygous missense variation in ADGRG6 (GPR126). No functional studies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1353 CDK8 Zornitza Stark Marked gene: CDK8 as ready
Intellectual disability syndromic and non-syndromic v0.1353 CDK8 Zornitza Stark Gene: cdk8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1353 CDK8 Zornitza Stark Classified gene: CDK8 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1353 CDK8 Zornitza Stark Gene: cdk8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1352 CDK8 Zornitza Stark gene: CDK8 was added
gene: CDK8 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: CDK8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDK8 were set to 30905399
Phenotypes for gene: CDK8 were set to Intellectual disability; dysmorphism; congenital abnormalities; seizures
Review for gene: CDK8 was set to GREEN
Added comment: 12 unrelated individuals, missense variants demonstrated as de novo in 10. All variants localize to the ATP-binding pocket of the kinase domain.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1351 GRIA2 Chirag Patel Marked gene: GRIA2 as ready
Intellectual disability syndromic and non-syndromic v0.1351 GRIA2 Chirag Patel Gene: gria2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1351 GRIA2 Chirag Patel Classified gene: GRIA2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1351 GRIA2 Chirag Patel Gene: gria2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1350 GRIA2 Chirag Patel gene: GRIA2 was added
gene: GRIA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: GRIA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIA2 were set to PMID: 31300657
Phenotypes for gene: GRIA2 were set to no OMIM number yet
Review for gene: GRIA2 was set to GREEN
Added comment: 28 unrelated patients with ID, ASD, Rett-like features, seizures/EE, and de novo heterozygous GRIA2 mutations. In functional expression studies, mutations led to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1349 GTF2E2 Chirag Patel changed review comment from: 2 unrelated non-photosensitive TTD families with homozygous missense mutation in GTF2E2. Functional evidence showing mutant TFIIEβ strongly reduces the total amount of the entire TFIIE complex, with a remarkable temperature-sensitive transcription defect, which strikingly correlates with the phenotypic aggravation of key clinical symptoms after episodes of high fever. Induced pluripotent stem cell reprogramming of patient fibroblasts followed by in vitro erythroid differentiation, showed a clear hematopoietic defect during late-stage differentiation associated with hemoglobin subunit imbalance.
Sources: Literature; to: 2 unrelated non-photosensitive TTD families (3 affected) with homozygous missense mutation in GTF2E2. Functional evidence showing mutant TFIIEβ strongly reduces the total amount of the entire TFIIE complex, with a remarkable temperature-sensitive transcription defect, which strikingly correlates with the phenotypic aggravation of key clinical symptoms after episodes of high fever. Induced pluripotent stem cell reprogramming of patient fibroblasts followed by in vitro erythroid differentiation, showed a clear hematopoietic defect during late-stage differentiation associated with hemoglobin subunit imbalance.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1349 GTF2E2 Chirag Patel Classified gene: GTF2E2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1349 GTF2E2 Chirag Patel Gene: gtf2e2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1348 GTF2E2 Chirag Patel gene: GTF2E2 was added
gene: GTF2E2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: GTF2E2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF2E2 were set to PMID: 28973399
Phenotypes for gene: GTF2E2 were set to Trichothiodystrophy 6, nonphotosensitive; OMIM #616943
Review for gene: GTF2E2 was set to AMBER
Added comment: 2 unrelated non-photosensitive TTD families with homozygous missense mutation in GTF2E2. Functional evidence showing mutant TFIIEβ strongly reduces the total amount of the entire TFIIE complex, with a remarkable temperature-sensitive transcription defect, which strikingly correlates with the phenotypic aggravation of key clinical symptoms after episodes of high fever. Induced pluripotent stem cell reprogramming of patient fibroblasts followed by in vitro erythroid differentiation, showed a clear hematopoietic defect during late-stage differentiation associated with hemoglobin subunit imbalance.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1347 KDM3B Chirag Patel Marked gene: KDM3B as ready
Intellectual disability syndromic and non-syndromic v0.1347 KDM3B Chirag Patel Gene: kdm3b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1347 KDM3B Chirag Patel Classified gene: KDM3B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1347 KDM3B Chirag Patel Gene: kdm3b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1346 KDM3B Chirag Patel gene: KDM3B was added
gene: KDM3B was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM3B were set to PMID: 30929739
Phenotypes for gene: KDM3B were set to no OMIM number yet
Review for gene: KDM3B was set to GREEN
Added comment: 14 unrelated individuals and 3 affected parents with varying degrees of ID, DD, short stature, dysmorphism, and de novo or inherited pathogenic variants in KDM3B. No functional studies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1345 LMAN2L Chirag Patel Classified gene: LMAN2L as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1345 LMAN2L Chirag Patel Gene: lman2l has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1344 LMAN2L Chirag Patel gene: LMAN2L was added
gene: LMAN2L was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: LMAN2L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LMAN2L were set to PMID: 31020005; 26566883
Phenotypes for gene: LMAN2L were set to ?Mental retardation, autosomal recessive, 52; OMIM #616887
Review for gene: LMAN2L was set to AMBER
Added comment: 1 consanguineous family with 7 individuals with ID and epilepsy, with homozygous LMAN2L missense mutation. Segregated with disease in family, and unaffected family members were heterozygous variant carriers. No functional studies.

1 non-consanguineous family with 4 affected with heterozygous frameshift LMAN2L mutation. Segregates in family. Mutation eliminates LMAN2L's endoplasmic reticulum retention signal and mislocalizes the protein from that compartment to the plasma membrane.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1343 LSM1 Chirag Patel gene: LSM1 was added
gene: LSM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: LSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM1 were set to PMID: 31010896
Phenotypes for gene: LSM1 were set to no OMIM number yet
Review for gene: LSM1 was set to RED
Added comment: 1 family with 2 siblings with global DD, multiple congenital anomalies, and abnormal eye movements, with homozygous splice variant in LSM1. Segregated with the phenotype in the family. Expression studies revealed absence of expression of the canonical isoform in the affected individuals. The Lsm1 knockout mice have a partially overlapping phenotype that affects the brain, heart, and eye.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1342 LSS Chirag Patel Marked gene: LSS as ready
Intellectual disability syndromic and non-syndromic v0.1342 LSS Chirag Patel Gene: lss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1342 LSS Chirag Patel Classified gene: LSS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1342 LSS Chirag Patel Gene: lss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1341 LSS Chirag Patel gene: LSS was added
gene: LSS was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSS were set to PMID: 30723320
Phenotypes for gene: LSS were set to Cataract 44, OMIM #616509; Hypotrichosis 14, OMIM #618275
Review for gene: LSS was set to GREEN
Added comment: Expanded the phenotypic spectrum of LSS to a recessive neuroectodermal syndrome formerly named alopecia with mental retardation (APMR) syndrome. Ten APMR individuals from 6 unrelated families with biallelic variants in LSS. Quantification of cholesterol and its precursors did not reveal noticeable imbalance.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1340 MACROD2 Chirag Patel gene: MACROD2 was added
gene: MACROD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: MACROD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MACROD2 were set to PMID: 31055587
Phenotypes for gene: MACROD2 were set to no OMIM number yet
Review for gene: MACROD2 was set to RED
Added comment: 1 family with a few affected with microcephaly, ID, dysmorphic features, and polydactyly. Deletion of chromosome 20p12.1 involving the MACROD2 gene was found in several members of the family. qRT-PCR showed higher levels of a MACROD2 mRNA isoform in the individuals carrying the deletion.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1339 MAST1 Chirag Patel Marked gene: MAST1 as ready
Intellectual disability syndromic and non-syndromic v0.1339 MAST1 Chirag Patel Gene: mast1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1339 MAST1 Chirag Patel Classified gene: MAST1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1339 MAST1 Chirag Patel Gene: mast1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1338 MAST1 Chirag Patel gene: MAST1 was added
gene: MAST1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAST1 were set to PMID: 31721002; 30449657
Phenotypes for gene: MAST1 were set to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations; OMIM #618273
Review for gene: MAST1 was set to GREEN
Added comment: 6 unrelated patients with mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) with de novo heterozygous mutations in MAST1 gene. In vitro functional studies showed that 1 of the variants (lys276del) increased MAST1 binding to microtubules compared to controls. Mutant mice heterozygous for a Mast1 leu278del allele showed a thicker corpus callosum compared to wildtype, and an overall reduction in cortical volume and thickness and decreased cerebellar volume and number of granule and Purkinje cells due to increased apoptosis compared to controls.

1 Emirati patient with ID, microcephaly, and dysmorphic features, with missense variant in MAST1.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1337 MEPCE Chirag Patel gene: MEPCE was added
gene: MEPCE was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: MEPCE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MEPCE were set to PMID: 31467394
Phenotypes for gene: MEPCE were set to no OMIM number yet
Review for gene: MEPCE was set to RED
Added comment: 1 patient with global DD and seizures with de novo MEPCE nonsense variant. mRNA and protein analyses identified nonsense-mediated mRNA decay to underlie the decreased amount of MEPCE in patient fibroblasts followed by LARP7 and 7SK snRNA downregulation and HEXIM1 upregulation. Flavopiridol treatment and ectopic MEPCE protein expression in patient fibroblasts rescued increased expression of six RNAP II-sensitive genes and suggested a possible repressive effect of MEPCE on P-TEFb-dependent transcription of specific genes.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1336 NCAPD2 Chirag Patel Classified gene: NCAPD2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1336 NCAPD2 Chirag Patel Gene: ncapd2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1335 NCAPD2 Chirag Patel gene: NCAPD2 was added
gene: NCAPD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: NCAPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCAPD2 were set to PMID: 31056748; 27737959; 28097321
Phenotypes for gene: NCAPD2 were set to ?Microcephaly 21, primary, autosomal recessive; OMIM #617983
Review for gene: NCAPD2 was set to AMBER
Added comment: 1 family with 2 sibs with microcephaly and ID, and homozygous NCAPD2 mutation, which segregated with disease. No functional evidence.

1 family with 1 affected and homozygous NCAPD2 mutation, which segregated with disease. Patient fibroblasts showed impaired chromosome segregation and abnormal recovery from mitotic condensation compared to controls.

1 family with 2 sibs with microcephaly, growth retardation, and ID, and homozygous NCAPD2 mutation, which segregated with disease. Functional studies of the variants and studies of patient cells were not performed.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1334 NFASC Chirag Patel Marked gene: NFASC as ready
Intellectual disability syndromic and non-syndromic v0.1334 NFASC Chirag Patel Gene: nfasc has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1334 NFASC Chirag Patel Classified gene: NFASC as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1334 NFASC Chirag Patel Gene: nfasc has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1333 NFASC Chirag Patel gene: NFASC was added
gene: NFASC was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: NFASC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFASC were set to PMID: 31501903; 28940097; 30124836; 30850329; 31608123
Phenotypes for gene: NFASC were set to Neurodevelopmental disorder with central and peripheral motor dysfunction; OMIM #618356
Review for gene: NFASC was set to GREEN
Added comment: > 10 unrelated families reported, exhibiting a neurodevelopmental disorder (intellectual disability, developmental delay, motor impairment, speech difficulties, early onset demyelinating neuropathy), with homozygous variants in NFASC. Segregated with the disorder in the family. Some studies with functional evidence.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1332 NLGN1 Chirag Patel gene: NLGN1 was added
gene: NLGN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: NLGN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NLGN1 were set to PMID: 30460678
Phenotypes for gene: NLGN1 were set to no OMIM number yet
Review for gene: NLGN1 was set to RED
Added comment: homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism. Segregated with disease. No functional studies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1331 P4HTM Chirag Patel Marked gene: P4HTM as ready
Intellectual disability syndromic and non-syndromic v0.1331 P4HTM Chirag Patel Gene: p4htm has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1331 P4HTM Chirag Patel Classified gene: P4HTM as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1331 P4HTM Chirag Patel Gene: p4htm has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1330 P4HTM Chirag Patel gene: P4HTM was added
gene: P4HTM was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: P4HTM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: P4HTM were set to PMID: 25078763; 30940925
Phenotypes for gene: P4HTM were set to Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities; OMIM #618493
Review for gene: P4HTM was set to GREEN
Added comment: 12 patients from 5 families with hypotonia, intellectual disability, and eye abnormalities, and homozygous or compound heterozygous pathogenic P4HTM gene variants. Segregated with the disorder in the families. In vitro functional expression studies of 3 of the P4HTM variants showed that they caused a significant decrease in the amount of soluble protein compared to wildtype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1329 PAK1 Chirag Patel Marked gene: PAK1 as ready
Intellectual disability syndromic and non-syndromic v0.1329 PAK1 Chirag Patel Gene: pak1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1329 PAK1 Chirag Patel Classified gene: PAK1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1329 PAK1 Chirag Patel Gene: pak1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1328 PAK1 Chirag Patel gene: PAK1 was added
gene: PAK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAK1 were set to PMID: 31504246; 30290153
Phenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay; OMIM #618158
Review for gene: PAK1 was set to GREEN
Added comment: 2 unrelated individuals with de novo PAK1 mutations, with developmental delay, secondary macrocephaly, seizures, and ataxic gait. Enhanced phosphorylation of the PAK1 targets JNK and AKT shown in fibroblasts of one subject and of c-JUN in those of both subjects compared with control subjects. In fibroblasts of the 2 affected individuals, they observed a trend toward enhanced PAK1 kinase activity. By using co-immunoprecipitation and size-exclusion chromatography, they observed a significantly reduced dimerization for both PAK1 mutants compared with wild-type PAK1.

4 unrelated individuals with intellectual disability, macrocephaly and seizures, with de novo heterozygous missense variants in PAK1.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1327 PHF21A Chirag Patel Marked gene: PHF21A as ready
Intellectual disability syndromic and non-syndromic v0.1327 PHF21A Chirag Patel Gene: phf21a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1327 PHF21A Chirag Patel Classified gene: PHF21A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1327 PHF21A Chirag Patel Gene: phf21a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1326 PHF21A Chirag Patel gene: PHF21A was added
gene: PHF21A was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PHF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHF21A were set to PMID: 31649809; 30487643; 22770980
Phenotypes for gene: PHF21A were set to no OMIM number yet.
Review for gene: PHF21A was set to GREEN
Added comment: 9 cases with intellectual disability and craniofacial anomalies (Potocki-Shaffer syndrome), with de novo truncating variants in PHF21A. No functional evidence of variants, but PHF21A is highly expressed in the human fetal brain, which is consistent with the neurodevelopmental phenotype.

2 other unrelated individuals with translocations disrupting PHF21A. Lymphoblastoid cell lines from translocation subjects showed derepression of the neuronal gene SCN3A and reduced LSD1 occupancy at the SCN3A promoter, supporting a direct functional consequence of PHF21A haploinsufficiency on transcriptional regulation.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1325 PIBF1 Chirag Patel Marked gene: PIBF1 as ready
Intellectual disability syndromic and non-syndromic v0.1325 PIBF1 Chirag Patel Gene: pibf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1325 PIBF1 Chirag Patel Classified gene: PIBF1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1325 PIBF1 Chirag Patel Gene: pibf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1324 PIBF1 Chirag Patel gene: PIBF1 was added
gene: PIBF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIBF1 were set to PubMed: 26167768; 30858804; 29695797
Phenotypes for gene: PIBF1 were set to Joubert syndrome 33; OMIM #617767
Review for gene: PIBF1 was set to GREEN
Added comment: 1 family of Schmiedeleut Hutterite descent with 2 affected brothers with Joubert syndrome had homozygous missense mutation in PIBF1 gene. Parents were heterozygous.

2 other Hutterite families with 3 affected children and same homozygous missense mutation in PIBF1 gene, suggesting a founder effect.

2 other unrelated individuals with compound heterozygous mutations in PIBF1 gene.

1 unrelated individual with compound heterozygous variants in PIBF1 gene, and functional evidence in the frog Xenopus.

1 unrelated individual with another homozygous missense mutation in PIBF1 gene, but no and functional evidence.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1323 PIGB Chirag Patel Marked gene: PIGB as ready
Intellectual disability syndromic and non-syndromic v0.1323 PIGB Chirag Patel Gene: pigb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1323 PIGB Chirag Patel Classified gene: PIGB as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1323 PIGB Chirag Patel Gene: pigb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1322 PIGB Chirag Patel gene: PIGB was added
gene: PIGB was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGB were set to PubMed: 31256876
Phenotypes for gene: PIGB were set to Epileptic encephalopathy, early infantile, 80; OMIM #618580
Review for gene: PIGB was set to GREEN
Added comment: 10 unrelated families with biallelic mutations in PIGB, with global DD and/or ID, and seizures. Two had polymicrogyria, 4 had a peripheral neuropathy, and 2 had a clinical diagnosis of DOORS syndrome. Patient lymphocytes and fibroblasts showed variably decreased levels of cell surface GPI-anchored proteins, including CD16 and CD59. In vitro functional expression studies performed with some of the mutations in PIGB-null CHO cells showed that the mutant proteins were unable to fully restore expression of GPI-anchored surface proteins, consistent with a loss of function, although the mutations had variable effects.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1321 PIGU Chirag Patel Marked gene: PIGU as ready
Intellectual disability syndromic and non-syndromic v0.1321 PIGU Chirag Patel Gene: pigu has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1321 PIGU Chirag Patel Classified gene: PIGU as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1321 PIGU Chirag Patel Gene: pigu has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1320 PIGU Chirag Patel gene: PIGU was added
gene: PIGU was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PIGU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGU were set to PMID: 31353022
Phenotypes for gene: PIGU were set to Glycosylphosphatidylinositol biosynthesis defect 21; OMIM #618590
Review for gene: PIGU was set to GREEN
Added comment: 5 patients from 3 unrelated families, with homozygous missense mutations in the PIGU gene. All individuals presented with global DD, severe-to-profound ID, muscular hypotonia, seizures, brain anomalies, scoliosis, and mild facial dysmorphism. Flow cytometric analysis of patient granulocytes showed a characteristic pattern, with reduced cell surface expression of CD16 and CD24. In addition, patient B cells showed increased expression of free GPI anchors determined by a specific antibody, T5. The findings suggested that PIGU mutations reduce the function of the GPI transamidase complex, leading to accumulation of free GPI anchors on the cell surface.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1319 PISD Chirag Patel Marked gene: PISD as ready
Intellectual disability syndromic and non-syndromic v0.1319 PISD Chirag Patel Gene: pisd has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1319 PISD Chirag Patel edited their review of gene: PISD: Changed publications: PMID: 31263216, 30858161
Intellectual disability syndromic and non-syndromic v0.1319 PISD Chirag Patel edited their review of gene: PISD: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.1319 PISD Chirag Patel Publications for gene PISD were changed from PMID: 31263216; 30858161 to PMID: 31263216; 30858161
Intellectual disability syndromic and non-syndromic v0.1318 PISD Chirag Patel Classified gene: PISD as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1318 PISD Chirag Patel Gene: pisd has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1317 PISD Chirag Patel changed review comment from: 4 individuals in 2 unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature (Liberfarb syndrome). Affected individuals shared a homozygous 10-bp deletion immediately upstream of the last exon of the PISD gene. In HEK293T cells, this variant led to aberrant splicing of PISD transcripts.
Sources: Literature; to: 4 individuals in 2 unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature (Liberfarb syndrome). Affected individuals shared a homozygous 10-bp deletion immediately upstream of the last exon of the PISD gene. In HEK293T cells, this variant led to aberrant splicing of PISD transcripts.

1 family with 2 sisters with congenital cataracts, short stature, and white matter changes identified compound heterozygous variants in the PISD gene. Decreased conversion of phosphatidylserine to PE in patient fibroblasts is consistent with impaired phosphatidylserine decarboxylase (PISD) enzyme activity.
Intellectual disability syndromic and non-syndromic v0.1317 PISD Chirag Patel gene: PISD was added
gene: PISD was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PISD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PISD were set to PMID: 31263216
Phenotypes for gene: PISD were set to no OMIM number yet.
Review for gene: PISD was set to AMBER
Added comment: 4 individuals in 2 unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature (Liberfarb syndrome). Affected individuals shared a homozygous 10-bp deletion immediately upstream of the last exon of the PISD gene. In HEK293T cells, this variant led to aberrant splicing of PISD transcripts.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1316 POU3F3 Chirag Patel Marked gene: POU3F3 as ready
Intellectual disability syndromic and non-syndromic v0.1316 POU3F3 Chirag Patel Gene: pou3f3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1316 POU3F3 Chirag Patel Classified gene: POU3F3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1316 POU3F3 Chirag Patel Gene: pou3f3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1315 POU3F3 Chirag Patel gene: POU3F3 was added
gene: POU3F3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: POU3F3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POU3F3 were set to PMID: 24550763; 31303265
Phenotypes for gene: POU3F3 were set to no OMIM number yet.
Review for gene: POU3F3 was set to GREEN
Added comment: 19 individuals with DD/ID/speech issues and heterozygous POU3F3 disruptions, most of which were de novo variants. Positive functional cell-based analyses of pathogenic variants.

1 patient reported with whole gene deletion and ID.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1314 PPP2CA Chirag Patel Classified gene: PPP2CA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1314 PPP2CA Chirag Patel Gene: ppp2ca has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1313 PPP2CA Chirag Patel gene: PPP2CA was added
gene: PPP2CA was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP2CA were set to PMID: 30595372
Phenotypes for gene: PPP2CA were set to Neurodevelopmental disorder and language delay with or without structural brain abnormalities; OMIM #618354
Review for gene: PPP2CA was set to GREEN
Added comment: 15 unrelated patients with a neurodevelopmental disorder with de novo heterozygous PPP2CA mutations, and 1 with partial deletion of PPP2CA. Functional studies showed complete PP2A dysfunction in 4 individuals with seemingly milder ID, hinting at haploinsufficiency. Ten other individuals showed mutation-specific biochemical distortions, including poor expression, altered binding to the A subunit and specific B-type subunits, and impaired phosphatase activity and C-terminal methylation.
Sources: Literature
Microcephaly v0.34 RNF113A Zornitza Stark Marked gene: RNF113A as ready
Microcephaly v0.34 RNF113A Zornitza Stark Gene: rnf113a has been classified as Amber List (Moderate Evidence).
Microcephaly v0.34 RNF113A Zornitza Stark Classified gene: RNF113A as Amber List (moderate evidence)
Microcephaly v0.34 RNF113A Zornitza Stark Gene: rnf113a has been classified as Amber List (Moderate Evidence).
Microcephaly v0.33 RNF113A Zornitza Stark gene: RNF113A was added
gene: RNF113A was added to Microcephaly_VCGS. Sources: Literature
Mode of inheritance for gene: RNF113A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF113A were set to 25612912; 31793730
Phenotypes for gene: RNF113A were set to Trichothiodystrophy 5, nonphotosensitive; OMIM #300953
Review for gene: RNF113A was set to AMBER
Added comment: 1 family of 2 male cousins with IUGR, progressive microcephaly, profound ID, genital anomalies, and severe linear growth failure, and nonsense Q301X mutation in RNF113A gene. Segregated with disease in the family. The mutation markedly reduced RNF113A protein expression in extracts from lymphoblastoid cell lines derived from the affected individuals.

2 fetuses affected with abnormalities similar to previous report, with the same nonsense Q301X mutation in RNF113A gene. ?Founder effect.
Sources: Literature
Mendeliome v0.246 RNF113A Zornitza Stark Marked gene: RNF113A as ready
Mendeliome v0.246 RNF113A Zornitza Stark Gene: rnf113a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.246 RNF113A Zornitza Stark Phenotypes for gene: RNF113A were changed from to Trichothiodystrophy 5, nonphotosensitive; OMIM #300953
Mendeliome v0.245 RNF113A Zornitza Stark Publications for gene: RNF113A were set to
Mendeliome v0.244 RNF113A Zornitza Stark Mode of inheritance for gene: RNF113A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.243 RNF113A Zornitza Stark Classified gene: RNF113A as Amber List (moderate evidence)
Mendeliome v0.243 RNF113A Zornitza Stark Gene: rnf113a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.242 RNF113A Zornitza Stark reviewed gene: RNF113A: Rating: AMBER; Mode of pathogenicity: None; Publications: 25612912, 31793730; Phenotypes: Trichothiodystrophy 5, nonphotosensitive, OMIM #300953; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1312 RNF113A Zornitza Stark Marked gene: RNF113A as ready
Intellectual disability syndromic and non-syndromic v0.1312 RNF113A Zornitza Stark Gene: rnf113a has been classified as Amber List (Moderate Evidence).
Microcephaly v0.32 PUS7 Zornitza Stark Marked gene: PUS7 as ready
Microcephaly v0.32 PUS7 Zornitza Stark Gene: pus7 has been classified as Green List (High Evidence).
Microcephaly v0.32 PUS7 Zornitza Stark Classified gene: PUS7 as Green List (high evidence)
Microcephaly v0.32 PUS7 Zornitza Stark Gene: pus7 has been classified as Green List (High Evidence).
Microcephaly v0.31 PUS7 Zornitza Stark gene: PUS7 was added
gene: PUS7 was added to Microcephaly_VCGS. Sources: Literature
Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS7 were set to 30526862; 30778726; 31583274
Phenotypes for gene: PUS7 were set to Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature; OMIM #618342
Added comment: 11 patients from 6 families with ID, speech delay, short stature, microcephaly, and aggressive behavior, with homozygous PUS7 mutations, which segregated with disease.
Sources: Literature
Mendeliome v0.242 PUS7 Zornitza Stark Marked gene: PUS7 as ready
Mendeliome v0.242 PUS7 Zornitza Stark Gene: pus7 has been classified as Green List (High Evidence).
Mendeliome v0.242 PUS7 Zornitza Stark Classified gene: PUS7 as Green List (high evidence)
Mendeliome v0.242 PUS7 Zornitza Stark Gene: pus7 has been classified as Green List (High Evidence).
Mendeliome v0.241 PUS7 Zornitza Stark gene: PUS7 was added
gene: PUS7 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS7 were set to 30526862; 30778726; 31583274
Phenotypes for gene: PUS7 were set to Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature; OMIM #618342
Review for gene: PUS7 was set to GREEN
Added comment: 11 patients from 6 families with ID, speech delay, short stature, microcephaly, and aggressive behavior, with homozygous PUS7 mutations, which segregated with disease.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1312 PUS7 Zornitza Stark Marked gene: PUS7 as ready
Intellectual disability syndromic and non-syndromic v0.1312 PUS7 Zornitza Stark Gene: pus7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1312 PUS7 Chirag Patel Classified gene: PUS7 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1312 PUS7 Chirag Patel Gene: pus7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1311 PUS7 Chirag Patel gene: PUS7 was added
gene: PUS7 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS7 were set to PMID: 30526862; 30778726; 31583274
Phenotypes for gene: PUS7 were set to Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature; OMIM #618342
Review for gene: PUS7 was set to GREEN
Added comment: 11 patients from 6 families with ID, speech delay, short stature, microcephaly, and aggressive behavior, with homozygous PUS7 mutations, which segregated with disease.

One study showed disease-related variants lead to abolishment of PUS7 activity on both tRNA and mRNA substrates. pus7 knockout in Drosophila melanogaster results in a number of behavioral defects, including increased activity, disorientation, and aggressiveness supporting that neurological defects are caused by PUS7 variants.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1310 RNF113A Chirag Patel Classified gene: RNF113A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1310 RNF113A Chirag Patel Gene: rnf113a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1309 RNF113A Chirag Patel gene: RNF113A was added
gene: RNF113A was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: RNF113A were set to PMID: 25612912; 31793730
Phenotypes for gene: RNF113A were set to ?Trichothiodystrophy 5, nonphotosensitive; OMIM #300953
Review for gene: RNF113A was set to AMBER
Added comment: 1 family of 2 male cousins with IUGR, progressive microcephaly, profound ID, genital anomalies, and severe linear growth failure, and nonsense Q301X mutation in RNF113A gene. Segregated with disease in the family. The mutation markedly reduced RNF113A protein expression in extracts from lymphoblastoid cell lines derived from the affected individuals.

2 fetuses affected with abnormalities similar to previous report, with the same nonsense Q301X mutation in RNF113A gene (can not access paper to see if from same family or functional evidence).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1308 SCAMP5 Chirag Patel Classified gene: SCAMP5 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1308 SCAMP5 Chirag Patel Gene: scamp5 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1307 SCAMP5 Chirag Patel gene: SCAMP5 was added
gene: SCAMP5 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SCAMP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCAMP5 were set to PMID: 31439720
Phenotypes for gene: SCAMP5 were set to no OMIM number yet
Review for gene: SCAMP5 was set to AMBER
Added comment: 2 unrelated individuals with ASD, ID and seizures, with the same heterozygous de novo variant in SCAMP5 (p.Gly302Trp). Western blot analysis of proteins overexpressed in the Drosophila fat body showed strongly reduced levels of the SCAMP p.Gly302Trp protein compared with the wild-type protein, indicating that the mutant either reduced expression or increased turnover of the protein. The expression of the fly homologue of the human SCAMP5 p.Gly180Trp mutation caused similar eye and neuronal phenotypes as the expression of SCAMP RNAi, suggesting a dominant-negative effect.
Sources: Literature
Mendeliome v0.240 SEMA5A Zornitza Stark Marked gene: SEMA5A as ready
Mendeliome v0.240 SEMA5A Zornitza Stark Gene: sema5a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.240 SEMA5A Zornitza Stark Classified gene: SEMA5A as Amber List (moderate evidence)
Mendeliome v0.240 SEMA5A Zornitza Stark Gene: sema5a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.239 SEMA5A Zornitza Stark gene: SEMA5A was added
gene: SEMA5A was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SEMA5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEMA5A were set to 26395558
Phenotypes for gene: SEMA5A were set to Intellectual disability; autism
Review for gene: SEMA5A was set to AMBER
Added comment: 1 patient with de novo translocation t(5;22)(p15.3;q11.21) and ASD and ID. At the translocation breakpoint on chromosome 5, they observed a 861-kb deletion encompassing the end of the SEMA5A gene. No functional studies.

2 patients with ASD and predicted deleterious heterozygous variants (maternally inherited). No functional studies
Sources: Literature
Mendeliome v0.238 SMARCC2 Zornitza Stark Marked gene: SMARCC2 as ready
Mendeliome v0.238 SMARCC2 Zornitza Stark Gene: smarcc2 has been classified as Green List (High Evidence).
Mendeliome v0.238 SMARCC2 Zornitza Stark Classified gene: SMARCC2 as Green List (high evidence)
Mendeliome v0.238 SMARCC2 Zornitza Stark Gene: smarcc2 has been classified as Green List (High Evidence).
Mendeliome v0.237 SMARCC2 Zornitza Stark gene: SMARCC2 was added
gene: SMARCC2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SMARCC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCC2 were set to 30580808
Phenotypes for gene: SMARCC2 were set to Coffin-Siris syndrome 8; OMIM #618362
Review for gene: SMARCC2 was set to GREEN
Added comment: 15 individuals with variable degrees of neurodevelopmental delay, growth retardation, prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1306 SCAPER Chirag Patel Classified gene: SCAPER as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1306 SCAPER Chirag Patel Gene: scaper has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1305 SCAPER Chirag Patel gene: SCAPER was added
gene: SCAPER was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCAPER were set to PMID: 28794130; 31069901; 31192531; 30723319
Phenotypes for gene: SCAPER were set to Intellectual developmental disorder and retinitis pigmentosa; OMIM #618195
Review for gene: SCAPER was set to GREEN
Added comment: 28 patients from 14 unrelated families with ID and retinitis pigmentosa (some with BBS phenotype), and homozygous or compound heterozygous mutations in SCAPER gene. No functional evidence of specific variants.

Analyses of SCAPER expression in human and mouse brain revealed an upregulation of SCAPER expression during cortical development and a higher expression of SCAPER in neurons compared to neural progenitors.
Sources: Literature
Mendeliome v0.236 SMARCD1 Zornitza Stark Marked gene: SMARCD1 as ready
Mendeliome v0.236 SMARCD1 Zornitza Stark Gene: smarcd1 has been classified as Green List (High Evidence).
Mendeliome v0.236 SMARCD1 Zornitza Stark Classified gene: SMARCD1 as Green List (high evidence)
Mendeliome v0.236 SMARCD1 Zornitza Stark Gene: smarcd1 has been classified as Green List (High Evidence).
Mendeliome v0.235 SMARCD1 Zornitza Stark gene: SMARCD1 was added
gene: SMARCD1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SMARCD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCD1 were set to 30879640
Phenotypes for gene: SMARCD1 were set to Intellectual disability; dysmorphic features
Review for gene: SMARCD1 was set to GREEN
Added comment: 5 individuals with heterozygous SMARCD1 variants (4 de novo, 1 unk), and developmental delay, intellectual disability, hypotonia, feeding difficulties, dysmorphisms, and small hands and feet.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1304 SMARCD1 Zornitza Stark Marked gene: SMARCD1 as ready
Intellectual disability syndromic and non-syndromic v0.1304 SMARCD1 Zornitza Stark Gene: smarcd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1304 SMARCC2 Zornitza Stark Marked gene: SMARCC2 as ready
Intellectual disability syndromic and non-syndromic v0.1304 SMARCC2 Zornitza Stark Gene: smarcc2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1304 SEMA5A Zornitza Stark Marked gene: SEMA5A as ready
Intellectual disability syndromic and non-syndromic v0.1304 SEMA5A Zornitza Stark Gene: sema5a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.234 BRSK2 Zornitza Stark Marked gene: BRSK2 as ready
Mendeliome v0.234 BRSK2 Zornitza Stark Gene: brsk2 has been classified as Green List (High Evidence).
Mendeliome v0.234 BRSK2 Zornitza Stark Classified gene: BRSK2 as Green List (high evidence)
Mendeliome v0.234 BRSK2 Zornitza Stark Gene: brsk2 has been classified as Green List (High Evidence).
Mendeliome v0.233 BRSK2 Zornitza Stark gene: BRSK2 was added
gene: BRSK2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: BRSK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRSK2 were set to 30879638
Phenotypes for gene: BRSK2 were set to Intellectual disability; autism
Review for gene: BRSK2 was set to GREEN
Added comment: Nine unrelated individuals with heterozygous variants in this gene; six confirmed de novo (parents available).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1304 BRSK2 Zornitza Stark Marked gene: BRSK2 as ready
Intellectual disability syndromic and non-syndromic v0.1304 BRSK2 Zornitza Stark Gene: brsk2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1304 BRSK2 Zornitza Stark Classified gene: BRSK2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1304 BRSK2 Zornitza Stark Gene: brsk2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1303 BRSK2 Zornitza Stark gene: BRSK2 was added
gene: BRSK2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: BRSK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRSK2 were set to 30879638
Phenotypes for gene: BRSK2 were set to Intellectual disability; autism
Review for gene: BRSK2 was set to GREEN
Added comment: Nine unrelated individuals with heterozygous variants in this gene; six confirmed de novo (parents available).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1302 SEMA5A Chirag Patel Classified gene: SEMA5A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1302 SEMA5A Chirag Patel Gene: sema5a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1301 SEMA5A Chirag Patel gene: SEMA5A was added
gene: SEMA5A was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SEMA5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEMA5A were set to PMID: 26395558
Phenotypes for gene: SEMA5A were set to no OMIM number yet
Review for gene: SEMA5A was set to AMBER
Added comment: 1 patient with de novo translocation t(5;22)(p15.3;q11.21) and ASD and ID. At the translocation breakpoint on chromosome 5, they observed a 861-kb deletion encompassing the end of the SEMA5A gene. No functional studies.

2 patients with ASD and predicted deleterious heterozygous variants (maternally inherited). No functional studies.
Sources: Literature
Mendeliome v0.232 BCORL1 Zornitza Stark Marked gene: BCORL1 as ready
Mendeliome v0.232 BCORL1 Zornitza Stark Gene: bcorl1 has been classified as Green List (High Evidence).
Mendeliome v0.232 BCORL1 Zornitza Stark Classified gene: BCORL1 as Green List (high evidence)
Mendeliome v0.232 BCORL1 Zornitza Stark Gene: bcorl1 has been classified as Green List (High Evidence).
Mendeliome v0.231 BCORL1 Zornitza Stark gene: BCORL1 was added
gene: BCORL1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: BCORL1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: BCORL1 were set to 24123876; 30941876
Phenotypes for gene: BCORL1 were set to Shukla-Vernon syndrome, MIM#301029
Review for gene: BCORL1 was set to GREEN
Added comment: Four unrelated families reported altogether; some mothers mildly affected.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1300 BCORL1 Zornitza Stark Marked gene: BCORL1 as ready
Intellectual disability syndromic and non-syndromic v0.1300 BCORL1 Zornitza Stark Gene: bcorl1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1300 BCORL1 Zornitza Stark Classified gene: BCORL1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1300 BCORL1 Zornitza Stark Gene: bcorl1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1299 SMARCC2 Chirag Patel Classified gene: SMARCC2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1299 BCORL1 Zornitza Stark gene: BCORL1 was added
gene: BCORL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: BCORL1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: BCORL1 were set to 24123876; 30941876
Phenotypes for gene: BCORL1 were set to Shukla-Vernon syndrome, MIM#301029
Review for gene: BCORL1 was set to GREEN
Added comment: Four unrelated families reported altogether; some mothers mildly affected.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1299 SMARCC2 Chirag Patel Gene: smarcc2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1298 SMARCC2 Chirag Patel gene: SMARCC2 was added
gene: SMARCC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SMARCC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCC2 were set to PMID: 30580808
Phenotypes for gene: SMARCC2 were set to Coffin-Siris syndrome 8; OMIM #618362
Review for gene: SMARCC2 was set to GREEN
Added comment: 15 individuals with variable degrees of neurodevelopmental delay, growth retardation, prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features. They found heterozygous de novo SMARCC2 variants, but no functional evidence of specific variants. Transcriptomic analysis of fibroblasts from affected individuals highlighted a group of differentially expressed genes with possible roles in regulation of neuronal development and function, namely H19, SCRG1, RELN, and CACNB4.
Sources: Literature
Mendeliome v0.230 BCL11B Zornitza Stark Marked gene: BCL11B as ready
Mendeliome v0.230 BCL11B Zornitza Stark Gene: bcl11b has been classified as Green List (High Evidence).
Mendeliome v0.230 BCL11B Zornitza Stark Classified gene: BCL11B as Green List (high evidence)
Mendeliome v0.230 BCL11B Zornitza Stark Gene: bcl11b has been classified as Green List (High Evidence).
Mendeliome v0.229 BCL11B Zornitza Stark gene: BCL11B was added
gene: BCL11B was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: BCL11B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BCL11B were set to 29985992
Phenotypes for gene: BCL11B were set to Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM# 618092
Review for gene: BCL11B was set to GREEN
Added comment: Nine unrelated individuals, all but one with de novo variants in this gene and syndromic ID/immunodeficiency. Most variants located in the last exon (exon 4) and are predicted to escape nonsense-mediated mRNA decay.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1297 SMARCD1 Chirag Patel Classified gene: SMARCD1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1297 SMARCD1 Chirag Patel Gene: smarcd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1296 SMARCD1 Chirag Patel gene: SMARCD1 was added
gene: SMARCD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SMARCD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCD1 were set to PMID: 30879640
Phenotypes for gene: SMARCD1 were set to no OMIM number yet
Review for gene: SMARCD1 was set to GREEN
Added comment: 5 individuals with heterozygous SMARCD1 variants (4 de novo, 1 unk), and developmental delay, intellectual disability, hypotonia, feeding difficulties, dysmorphisms, and small hands and feet. No functional evidence of some variants was not conclusive with immunoblot or co-immunoprecipitation studies. Targeted knockdown of Drosophila ortholog Bap60 in the mushroom body of adult flies causes defects in long-term memory. Mushroom-body-specific transcriptome analysis revealed that Bap60 is required for context-dependent expression of genes involved in neuron function and development in juvenile flies when synaptic connections are actively being formed in response to experience. T
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1295 BCL11B Zornitza Stark Marked gene: BCL11B as ready
Intellectual disability syndromic and non-syndromic v0.1295 BCL11B Zornitza Stark Gene: bcl11b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1295 BCL11B Zornitza Stark Classified gene: BCL11B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1295 BCL11B Zornitza Stark Gene: bcl11b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1294 BCL11B Zornitza Stark gene: BCL11B was added
gene: BCL11B was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: BCL11B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BCL11B were set to 29985992
Phenotypes for gene: BCL11B were set to Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM# 618092
Review for gene: BCL11B was set to GREEN
Added comment: Nine unrelated individuals, all but one with de novo variants in this gene and syndromic ID/immunodeficiency. Most variants located in the last exon (exon 4) and are predicted to escape nonsense-mediated mRNA decay.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1293 SNRPE Chirag Patel edited their review of gene: SNRPE: Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.1293 SNRPE Chirag Patel gene: SNRPE was added
gene: SNRPE was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SNRPE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SNRPE were set to Hypotrichosis 11; OMIM #615059
Review for gene: SNRPE was set to AMBER
Added comment: 1 patient with de novo heterozygous missense SNRPE mutation, with non-syndromic primary microcephaly and intellectual disability. SNRPE encodes SmE and they showed that the microcephaly-linked SmE variant is unable to interact with the SMN complex and as a consequence fails to assemble into U snRNPs. This results in widespread mRNA splicing alterations in fibroblast cells derived from this patient. Similar alterations were observed in HEK293 cells upon SmE depletion that could be rescued by the expression of wild type but not mutant SmE. Depletion of SmE in zebrafish causes aberrant mRNA splicing alterations and reduced brain size, reminiscent of the patient microcephaly phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1292 SOX4 Chirag Patel Classified gene: SOX4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1292 SOX4 Chirag Patel Gene: sox4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1291 SOX4 Chirag Patel gene: SOX4 was added
gene: SOX4 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SOX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX4 were set to PMID: 30661772
Phenotypes for gene: SOX4 were set to Coffin-Siris syndrome 10; OMIM #618506
Review for gene: SOX4 was set to GREEN
Added comment: 4 patients with syndromic DD/ID and de novo mutations in SOX4 gene. Functional assays demonstrated that the SOX4 proteins carrying these variants were unable to bind DNA in vitro and transactivate SOX reporter genes in cultured cells.
Sources: Literature
Mendeliome v0.228 ATN1 Zornitza Stark Marked gene: ATN1 as ready
Mendeliome v0.228 ATN1 Zornitza Stark Gene: atn1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1290 SVBP Chirag Patel Classified gene: SVBP as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1290 SVBP Chirag Patel Gene: svbp has been classified as Green List (High Evidence).
Mendeliome v0.228 ATN1 Zornitza Stark Phenotypes for gene: ATN1 were changed from to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#618494
Mendeliome v0.227 ATN1 Zornitza Stark Publications for gene: ATN1 were set to
Intellectual disability syndromic and non-syndromic v0.1289 SVBP Chirag Patel gene: SVBP was added
gene: SVBP was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SVBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SVBP were set to PMID: 31363758; 30607023
Phenotypes for gene: SVBP were set to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly; OMIM #618569
Review for gene: SVBP was set to GREEN
Added comment: 5 unrelated families with homozygous mutations in SVBP. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls.
Sources: Literature
Mendeliome v0.226 ATN1 Zornitza Stark Mode of inheritance for gene: ATN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.225 ATN1 Zornitza Stark reviewed gene: ATN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30827498; Phenotypes: Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#618494; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1288 TANC2 Chirag Patel Classified gene: TANC2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1288 TANC2 Chirag Patel Gene: tanc2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.27 ATN1 Zornitza Stark Marked gene: ATN1 as ready
Genetic Epilepsy v0.27 ATN1 Zornitza Stark Gene: atn1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.27 ATN1 Zornitza Stark Classified gene: ATN1 as Green List (high evidence)
Genetic Epilepsy v0.27 ATN1 Zornitza Stark Gene: atn1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1287 TANC2 Chirag Patel gene: TANC2 was added
gene: TANC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: TANC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TANC2 were set to PMID: 31616000
Phenotypes for gene: TANC2 were set to no OMIM number yet
Review for gene: TANC2 was set to GREEN
Added comment: 19 families with potentially disruptive heterozygous TANC2 variants, including 16 likely gene-disrupting mutations and three intragenic microdeletions. Patients presented with autism, intellectual disability, delayed language and motor development, epilepsy, facial dysmorphism, with complex psychiatric dysfunction or behavioral problems in adult probands or carrier parents. No functional evidence of specific variants, but they show TANC2 is expressed broadly in the human developing brain, especially in excitatory neurons and glial cells, and shows a more restricted pattern in Drosophila glial cells where its disruption affects behavioral outcomes.
Sources: Literature
Genetic Epilepsy v0.26 ATN1 Zornitza Stark gene: ATN1 was added
gene: ATN1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATN1 were set to 30827498
Phenotypes for gene: ATN1 were set to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#618494
Review for gene: ATN1 was set to GREEN
Added comment: Eight unrelated individuals with de novo heterozygous variants in this gene and syndromic ID; all variants result in substitutions within the highly conserved 16-amino acid histidine-rich 'HX repeat' motif near the C terminus.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1286 ATN1 Zornitza Stark Marked gene: ATN1 as ready
Intellectual disability syndromic and non-syndromic v0.1286 ATN1 Zornitza Stark Gene: atn1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1286 ATN1 Zornitza Stark Classified gene: ATN1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1286 ATN1 Zornitza Stark Gene: atn1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1285 ATN1 Zornitza Stark gene: ATN1 was added
gene: ATN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATN1 were set to 30827498
Phenotypes for gene: ATN1 were set to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#618494
Review for gene: ATN1 was set to GREEN
Added comment: Eight unrelated individuals with de novo heterozygous variants in this gene and syndromic ID; all variants result in substitutions within the highly conserved 16-amino acid histidine-rich 'HX repeat' motif near the C terminus.
Sources: Literature
Genetic Epilepsy v0.25 APC2 Zornitza Stark Marked gene: APC2 as ready
Genetic Epilepsy v0.25 APC2 Zornitza Stark Gene: apc2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.25 APC2 Zornitza Stark Classified gene: APC2 as Green List (high evidence)
Genetic Epilepsy v0.25 APC2 Zornitza Stark Gene: apc2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1284 TARS Chirag Patel Classified gene: TARS as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1284 TARS Chirag Patel Gene: tars has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.24 APC2 Zornitza Stark gene: APC2 was added
gene: APC2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APC2 were set to 31585108
Phenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10, MIM#618677
Review for gene: APC2 was set to GREEN
Added comment: 12 individuals from 8 unrelated families; intellectual disability, seizures, cortical dysplasia including posterior to anterior predominant pattern of lissencephaly, heterotopias, paucity of white matter, thin corpus callosum.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1283 TARS Chirag Patel gene: TARS was added
gene: TARS was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: TARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TARS were set to PMID: 31374204
Phenotypes for gene: TARS were set to Trichothiodystrophy 7, nonphotosensitive; OMIM #618546
Review for gene: TARS was set to AMBER
Added comment: Clinical features of trichothiodystrophy (TTD) include ichthyosis, intellectual disability, decreased fertility, short stature.

2 unrelated patients with non-photosensitive-TTD, in whom limited clinical information was available (one with DD): one compound heterozygous TARS variants, second homozygous for TARS variant. They showed that the variants had a profound effect on TARS protein stability and enzymatic function.
Sources: Literature
Lissencephaly and Band Heterotopia v0.7 APC2 Zornitza Stark Marked gene: APC2 as ready
Lissencephaly and Band Heterotopia v0.7 APC2 Zornitza Stark Gene: apc2 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.7 APC2 Zornitza Stark Classified gene: APC2 as Green List (high evidence)
Lissencephaly and Band Heterotopia v0.7 APC2 Zornitza Stark Gene: apc2 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.6 APC2 Zornitza Stark gene: APC2 was added
gene: APC2 was added to Lissencephaly and band heterotopia_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APC2 were set to 31585108
Phenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10, MIM#618677
Added comment: 12 individuals from 8 unrelated families; intellectual disability, seizures, cortical dysplasia including posterior to anterior predominant pattern of lissencephaly, heterotopias, paucity of white matter, thin corpus callosum.
Sources: Literature
Mendeliome v0.225 APC2 Zornitza Stark Marked gene: APC2 as ready
Mendeliome v0.225 APC2 Zornitza Stark Gene: apc2 has been classified as Green List (High Evidence).
Mendeliome v0.225 APC2 Zornitza Stark Classified gene: APC2 as Green List (high evidence)
Mendeliome v0.225 APC2 Zornitza Stark Gene: apc2 has been classified as Green List (High Evidence).
Mendeliome v0.224 APC2 Zornitza Stark gene: APC2 was added
gene: APC2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APC2 were set to 31585108
Phenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10, MIM#618677
Review for gene: APC2 was set to GREEN
Added comment: 12 individuals from 8 unrelated families; intellectual disability, seizures, cortical dysplasia including posterior to anterior predominant pattern of lissencephaly, heterotopias, paucity of white matter, thin corpus callosum.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1282 TEMN3-AS1 Chirag Patel changed review comment from: 3 unrelated families, but no functional evidence.
Sources: Literature; to: 3 unrelated families with DD/ID as part of syndromic microphthalmia, but no functional evidence.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1282 TEMN3-AS1 Chirag Patel Classified gene: TEMN3-AS1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1282 TEMN3-AS1 Chirag Patel Gene: temn3-as1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1281 TEMN3-AS1 Chirag Patel gene: TEMN3-AS1 was added
gene: TEMN3-AS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: TEMN3-AS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TEMN3-AS1 were set to PubMed: 27103084; 30513139; 30513139
Phenotypes for gene: TEMN3-AS1 were set to ?Microphthalmia, isolated, with coloboma 9, OMIM #615145; Microphthalmia, syndromic 15, OMIM #615145
Review for gene: TEMN3-AS1 was set to AMBER
Added comment: 3 unrelated families, but no functional evidence.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1280 APC2 Zornitza Stark Marked gene: APC2 as ready
Intellectual disability syndromic and non-syndromic v0.1280 APC2 Zornitza Stark Gene: apc2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1280 APC2 Zornitza Stark Classified gene: APC2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1280 APC2 Zornitza Stark Gene: apc2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1279 APC2 Zornitza Stark gene: APC2 was added
gene: APC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APC2 were set to 31585108
Phenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10, MIM#618677
Review for gene: APC2 was set to GREEN
Added comment: 12 individuals from 8 unrelated families; intellectual disability, seizures, cortical dysplasia including posterior to anterior predominant pattern of lissencephaly, heterotopias, paucity of white matter, thin corpus callosum.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1278 VAMP2 Chirag Patel Classified gene: VAMP2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1278 VAMP2 Chirag Patel Gene: vamp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1277 VAMP2 Chirag Patel gene: VAMP2 was added
gene: VAMP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: VAMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VAMP2 were set to PMID: 30929742
Phenotypes for gene: VAMP2 were set to no OMIM number yet
Review for gene: VAMP2 was set to GREEN
Added comment: 5 unrelated patients with heterozygous de novo mutations in VAMP2, presenting with a neurodevelopmental disorder characterized by axial hypotonia, intellectual disability, and autistic features. Affected individuals carrying de novo non-synonymous variants involving the C-terminal region presented a more severe phenotype with additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. Reconstituted fusion involving a lipid-mixing assay indicated impairment in vesicle fusion as one of the possible associated disease mechanisms.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1276 ZMIZ1 Chirag Patel Classified gene: ZMIZ1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1276 ZMIZ1 Chirag Patel Gene: zmiz1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1275 ZMIZ1 Chirag Patel gene: ZMIZ1 was added
gene: ZMIZ1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMIZ1 were set to PubMed: 30639322
Phenotypes for gene: ZMIZ1 were set to Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies; OMIM #618659
Review for gene: ZMIZ1 was set to GREEN
Added comment: 28 families with spectrum of neurodevelopmental features (including ID, ASD, and ADHD) due to de novo ZNF292 variants (1 family inherited). No functional evidence of specific variants, but ZNF292 is highly expressed in the developing human brain.


14 unrelated patients with neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, and de novo heterozygous mutations in the ZMIZ1 gene. Transfection of 3 variants (T300M, c.3112dupA, and K91R) into HEK293T cells resulted in decreased induction of luciferase activity compared to wildtype (although the change for K91R was not statistically significant), suggesting impaired coactivation activity of the mutant proteins. Electroporation of these 3 mutants into progenitor cells in the ventricular zone of embryonic mice cortices resulted in defective neuronal migration to the cortex, as well as morphologic abnormalities of the neurons manifest as rounded cells with aberrantly oriented processes. These findings suggested that the ZMIZ1 mutations disrupted proper neuronal polarization and neuronal migration in the developing cortex. Functional studies of the other variants and additional studies of patient cells were not performed.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1274 ZNF292 Chirag Patel Classified gene: ZNF292 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1274 ZNF292 Chirag Patel Gene: znf292 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1273 ZNF292 Chirag Patel gene: ZNF292 was added
gene: ZNF292 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ZNF292 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF292 were set to PMID: 31723249
Phenotypes for gene: ZNF292 were set to no OMIM number yet
Review for gene: ZNF292 was set to GREEN
Added comment: 28 families with spectrum of neurodevelopmental features (including ID, ASD, and ADHD) due to de novo ZNF292 variants (1 family inherited). No functional evidence of specific variants, but ZNF292 is highly expressed in the developing human brain.
Sources: Literature
Mendeliome v0.223 ALKBH8 Zornitza Stark Marked gene: ALKBH8 as ready
Mendeliome v0.223 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Green List (High Evidence).
Mendeliome v0.223 ALKBH8 Zornitza Stark Classified gene: ALKBH8 as Green List (high evidence)
Mendeliome v0.223 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Green List (High Evidence).
Mendeliome v0.222 ALKBH8 Zornitza Stark gene: ALKBH8 was added
gene: ALKBH8 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ALKBH8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALKBH8 were set to 31079898
Phenotypes for gene: ALKBH8 were set to Intellectual developmental disorder, autosomal recessive 71, MIM#618504
Review for gene: ALKBH8 was set to GREEN
Added comment: Two families and functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1272 ALKBH8 Zornitza Stark Marked gene: ALKBH8 as ready
Intellectual disability syndromic and non-syndromic v0.1272 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1272 ALKBH8 Zornitza Stark Classified gene: ALKBH8 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1272 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1271 ALKBH8 Zornitza Stark gene: ALKBH8 was added
gene: ALKBH8 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ALKBH8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALKBH8 were set to 31079898
Phenotypes for gene: ALKBH8 were set to Intellectual developmental disorder, autosomal recessive 71, MIM#618504
Review for gene: ALKBH8 was set to GREEN
Added comment: Two families and functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1270 ADGRB3 Zornitza Stark Marked gene: ADGRB3 as ready
Intellectual disability syndromic and non-syndromic v0.1270 ADGRB3 Zornitza Stark Gene: adgrb3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1270 ADGRB3 Zornitza Stark gene: ADGRB3 was added
gene: ADGRB3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ADGRB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADGRB3 were set to 30659260; 18628273
Phenotypes for gene: ADGRB3 were set to Intellectual disability
Review for gene: ADGRB3 was set to RED
Added comment: Single family with intragenic bi-allelic duplications and ID reported; association studies with schizophrenia.
Sources: Literature
Mendeliome v0.221 ACTL6B Zornitza Stark Marked gene: ACTL6B as ready
Mendeliome v0.221 ACTL6B Zornitza Stark Gene: actl6b has been classified as Green List (High Evidence).
Mendeliome v0.221 ACTL6B Zornitza Stark Classified gene: ACTL6B as Green List (high evidence)
Mendeliome v0.221 ACTL6B Zornitza Stark Gene: actl6b has been classified as Green List (High Evidence).
Mendeliome v0.220 ACTL6B Zornitza Stark gene: ACTL6B was added
gene: ACTL6B was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ACTL6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACTL6B were set to 31134736; 31031012; 30656450; 30237576
Phenotypes for gene: ACTL6B were set to Epileptic encephalopathy, early infantile, 76, MIM# 618468; Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470
Review for gene: ACTL6B was set to GREEN
Added comment: Over 10 unrelated individuals reported in the literature.
Sources: Literature
Genetic Epilepsy v0.23 ACTL6B Zornitza Stark Marked gene: ACTL6B as ready
Genetic Epilepsy v0.23 ACTL6B Zornitza Stark Gene: actl6b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.23 ACTL6B Zornitza Stark Classified gene: ACTL6B as Green List (high evidence)
Genetic Epilepsy v0.23 ACTL6B Zornitza Stark Gene: actl6b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.22 ACTL6B Zornitza Stark gene: ACTL6B was added
gene: ACTL6B was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: ACTL6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACTL6B were set to 31134736; 31031012; 30656450; 30237576
Phenotypes for gene: ACTL6B were set to Epileptic encephalopathy, early infantile, 76, MIM# 618468; Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470
Review for gene: ACTL6B was set to GREEN
Added comment: Multiple affected individuals reported, main phenotype is ID/EE.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1269 ACTL6B Zornitza Stark Marked gene: ACTL6B as ready
Intellectual disability syndromic and non-syndromic v0.1269 ACTL6B Zornitza Stark Gene: actl6b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1269 ACTL6B Zornitza Stark Classified gene: ACTL6B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1269 ACTL6B Zornitza Stark Gene: actl6b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1268 ACTL6B Zornitza Stark gene: ACTL6B was added
gene: ACTL6B was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ACTL6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACTL6B were set to 31134736; 31031012; 30656450; 30237576
Phenotypes for gene: ACTL6B were set to Epileptic encephalopathy, early infantile, 76, MIM# 618468; Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470
Review for gene: ACTL6B was set to GREEN
Added comment: Multiple affected individuals reported, main phenotype is ID/EE.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1267 SP7 Zornitza Stark Marked gene: SP7 as ready
Intellectual disability syndromic and non-syndromic v0.1267 SP7 Zornitza Stark Gene: sp7 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1267 SP7 Zornitza Stark Phenotypes for gene: SP7 were changed from to Osteogenesis imperfecta, type XII; OMIM # 613849
Intellectual disability syndromic and non-syndromic v0.1266 SP7 Zornitza Stark Mode of inheritance for gene: SP7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1265 SPEG Zornitza Stark Marked gene: SPEG as ready
Intellectual disability syndromic and non-syndromic v0.1265 SPEG Zornitza Stark Gene: speg has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1265 SPINK5 Zornitza Stark Marked gene: SPINK5 as ready
Intellectual disability syndromic and non-syndromic v0.1265 SPINK5 Zornitza Stark Gene: spink5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1265 SPTLC1 Zornitza Stark Marked gene: SPTLC1 as ready
Intellectual disability syndromic and non-syndromic v0.1265 SPTLC1 Zornitza Stark Gene: sptlc1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1265 SPTLC1 Zornitza Stark Mode of inheritance for gene: SPTLC1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1264 ST7 Zornitza Stark Marked gene: ST7 as ready
Intellectual disability syndromic and non-syndromic v0.1264 ST7 Zornitza Stark Gene: st7 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1264 STAC3 Zornitza Stark Marked gene: STAC3 as ready
Intellectual disability syndromic and non-syndromic v0.1264 STAC3 Zornitza Stark Gene: stac3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1264 STAT5B Zornitza Stark Marked gene: STAT5B as ready
Intellectual disability syndromic and non-syndromic v0.1264 STAT5B Zornitza Stark Gene: stat5b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1264 STK3 Zornitza Stark Marked gene: STK3 as ready
Intellectual disability syndromic and non-syndromic v0.1264 STK3 Zornitza Stark Gene: stk3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1264 STT3A Zornitza Stark Phenotypes for gene: STT3A were changed from ?Congenital disorder of glycosylation, type Iw; OMIM #615596 to Congenital disorder of glycosylation, type Iw; OMIM #615596
Intellectual disability syndromic and non-syndromic v0.1263 STT3A Zornitza Stark Publications for gene: STT3A were set to PMID: 23842455
Intellectual disability syndromic and non-syndromic v0.1262 STT3A Zornitza Stark Classified gene: STT3A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1262 STT3A Zornitza Stark Added comment: Comment on list classification: Two further recent publications identified, bringing the total number of reported families to three.
Intellectual disability syndromic and non-syndromic v0.1262 STT3A Zornitza Stark Gene: stt3a has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.3 STT3A Zornitza Stark Marked gene: STT3A as ready
Congenital Disorders of Glycosylation v0.3 STT3A Zornitza Stark Gene: stt3a has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.3 STT3A Zornitza Stark Phenotypes for gene: STT3A were changed from to Congenital disorder of glycosylation, type Iw; OMIM #615596
Congenital Disorders of Glycosylation v0.2 STT3A Zornitza Stark Publications for gene: STT3A were set to
Congenital Disorders of Glycosylation v0.1 STT3A Zornitza Stark Mode of inheritance for gene: STT3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.0 STT3A Zornitza Stark reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23842455, 30701557, 28424003; Phenotypes: Congenital disorder of glycosylation, type Iw, OMIM #615596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1261 STT3A Zornitza Stark Marked gene: STT3A as ready
Intellectual disability syndromic and non-syndromic v0.1261 STT3A Zornitza Stark Gene: stt3a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1261 STT3B Zornitza Stark Marked gene: STT3B as ready
Intellectual disability syndromic and non-syndromic v0.1261 STT3B Zornitza Stark Gene: stt3b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1261 TAF8 Zornitza Stark Marked gene: TAF8 as ready
Intellectual disability syndromic and non-syndromic v0.1261 TAF8 Zornitza Stark Gene: taf8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1261 TDGF1 Zornitza Stark Marked gene: TDGF1 as ready
Intellectual disability syndromic and non-syndromic v0.1261 TDGF1 Zornitza Stark Gene: tdgf1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1261 TDGF1 Zornitza Stark Mode of inheritance for gene: TDGF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1260 TFAP2A Zornitza Stark Marked gene: TFAP2A as ready
Intellectual disability syndromic and non-syndromic v0.1260 TFAP2A Zornitza Stark Gene: tfap2a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TFAP2B Zornitza Stark Marked gene: TFAP2B as ready
Intellectual disability syndromic and non-syndromic v0.1260 TFAP2B Zornitza Stark Gene: tfap2b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TFG Zornitza Stark Marked gene: TFG as ready
Intellectual disability syndromic and non-syndromic v0.1260 TFG Zornitza Stark Gene: tfg has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TG Zornitza Stark Marked gene: TG as ready
Intellectual disability syndromic and non-syndromic v0.1260 TG Zornitza Stark Gene: tg has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TGFBR1 Zornitza Stark Marked gene: TGFBR1 as ready
Intellectual disability syndromic and non-syndromic v0.1260 TGFBR1 Zornitza Stark Gene: tgfbr1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TGFBR2 Zornitza Stark Marked gene: TGFBR2 as ready
Intellectual disability syndromic and non-syndromic v0.1260 TGFBR2 Zornitza Stark Gene: tgfbr2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 THAP1 Zornitza Stark Marked gene: THAP1 as ready
Intellectual disability syndromic and non-syndromic v0.1260 THAP1 Zornitza Stark Gene: thap1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TIMM8A Zornitza Stark Marked gene: TIMM8A as ready
Intellectual disability syndromic and non-syndromic v0.1260 TIMM8A Zornitza Stark Gene: timm8a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TNRC6B Zornitza Stark Marked gene: TNRC6B as ready
Intellectual disability syndromic and non-syndromic v0.1260 TNRC6B Zornitza Stark Gene: tnrc6b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TP63 Zornitza Stark Marked gene: TP63 as ready
Intellectual disability syndromic and non-syndromic v0.1260 TP63 Zornitza Stark Gene: tp63 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 ERLIN2 Zornitza Stark Marked gene: ERLIN2 as ready
Intellectual disability syndromic and non-syndromic v0.1260 ERLIN2 Zornitza Stark Gene: erlin2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TRAPPC6A Zornitza Stark Marked gene: TRAPPC6A as ready
Intellectual disability syndromic and non-syndromic v0.1260 TRAPPC6A Zornitza Stark Gene: trappc6a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TREM2 Zornitza Stark Marked gene: TREM2 as ready
Intellectual disability syndromic and non-syndromic v0.1260 TREM2 Zornitza Stark Gene: trem2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TRHR Zornitza Stark Marked gene: TRHR as ready
Intellectual disability syndromic and non-syndromic v0.1260 TRHR Zornitza Stark Gene: trhr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TRIM37 Zornitza Stark Marked gene: TRIM37 as ready
Intellectual disability syndromic and non-syndromic v0.1260 TRIM37 Zornitza Stark Gene: trim37 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TTC21B Zornitza Stark Marked gene: TTC21B as ready
Intellectual disability syndromic and non-syndromic v0.1260 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TTR Zornitza Stark Marked gene: TTR as ready
Intellectual disability syndromic and non-syndromic v0.1260 TTR Zornitza Stark Gene: ttr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TWNK Zornitza Stark Marked gene: TWNK as ready
Intellectual disability syndromic and non-syndromic v0.1260 TWNK Zornitza Stark Gene: twnk has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 UCHL1 Zornitza Stark Marked gene: UCHL1 as ready
Intellectual disability syndromic and non-syndromic v0.1260 UCHL1 Zornitza Stark Gene: uchl1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 UGT1A1 Zornitza Stark Marked gene: UGT1A1 as ready
Intellectual disability syndromic and non-syndromic v0.1260 UGT1A1 Zornitza Stark Gene: ugt1a1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 UNC13D Zornitza Stark Marked gene: UNC13D as ready
Intellectual disability syndromic and non-syndromic v0.1260 UNC13D Zornitza Stark Gene: unc13d has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 UQCRB Zornitza Stark Marked gene: UQCRB as ready
Intellectual disability syndromic and non-syndromic v0.1260 UQCRB Zornitza Stark Gene: uqcrb has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 UQCRC2 Zornitza Stark Marked gene: UQCRC2 as ready
Intellectual disability syndromic and non-syndromic v0.1260 UQCRC2 Zornitza Stark Gene: uqcrc2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 UQCRQ Zornitza Stark Marked gene: UQCRQ as ready
Intellectual disability syndromic and non-syndromic v0.1260 UQCRQ Zornitza Stark Gene: uqcrq has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 VAMP1 Zornitza Stark Marked gene: VAMP1 as ready
Intellectual disability syndromic and non-syndromic v0.1260 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 VANGL1 Zornitza Stark Marked gene: VANGL1 as ready
Intellectual disability syndromic and non-syndromic v0.1259 VANGL1 Zornitza Stark Gene: vangl1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 VPS45 Zornitza Stark Marked gene: VPS45 as ready
Intellectual disability syndromic and non-syndromic v0.1259 VPS45 Zornitza Stark Gene: vps45 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 WASHC4 Zornitza Stark Marked gene: WASHC4 as ready
Intellectual disability syndromic and non-syndromic v0.1259 WASHC4 Zornitza Stark Gene: washc4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 WASHC5 Zornitza Stark Marked gene: WASHC5 as ready
Intellectual disability syndromic and non-syndromic v0.1259 WASHC5 Zornitza Stark Gene: washc5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 WDR11 Zornitza Stark Marked gene: WDR11 as ready
Intellectual disability syndromic and non-syndromic v0.1259 WDR11 Zornitza Stark Gene: wdr11 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 WDR13 Zornitza Stark Marked gene: WDR13 as ready
Intellectual disability syndromic and non-syndromic v0.1259 WDR13 Zornitza Stark Gene: wdr13 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 WDR19 Zornitza Stark Marked gene: WDR19 as ready
Intellectual disability syndromic and non-syndromic v0.1259 WDR19 Zornitza Stark Gene: wdr19 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 WDR34 Zornitza Stark Marked gene: WDR34 as ready
Intellectual disability syndromic and non-syndromic v0.1259 WDR34 Zornitza Stark Gene: wdr34 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 WRAP53 Zornitza Stark Marked gene: WRAP53 as ready
Intellectual disability syndromic and non-syndromic v0.1259 WRAP53 Zornitza Stark Gene: wrap53 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 ZCCHC12 Zornitza Stark Marked gene: ZCCHC12 as ready
Intellectual disability syndromic and non-syndromic v0.1259 ZCCHC12 Zornitza Stark Gene: zcchc12 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 ZDHHC15 Zornitza Stark Marked gene: ZDHHC15 as ready
Intellectual disability syndromic and non-syndromic v0.1259 ZDHHC15 Zornitza Stark Gene: zdhhc15 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 ZFP57 Zornitza Stark Marked gene: ZFP57 as ready
Intellectual disability syndromic and non-syndromic v0.1259 ZFP57 Zornitza Stark Gene: zfp57 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 ZMYM3 Zornitza Stark Marked gene: ZMYM3 as ready
Intellectual disability syndromic and non-syndromic v0.1259 ZMYM3 Zornitza Stark Gene: zmym3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 ZMYM3 Zornitza Stark Publications for gene: ZMYM3 were set to
Intellectual disability syndromic and non-syndromic v0.1258 ZNF41 Zornitza Stark Marked gene: ZNF41 as ready
Intellectual disability syndromic and non-syndromic v0.1258 ZNF41 Zornitza Stark Gene: znf41 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1258 ZNF41 Zornitza Stark Publications for gene: ZNF41 were set to
Intellectual disability syndromic and non-syndromic v0.1257 ZNF423 Zornitza Stark Marked gene: ZNF423 as ready
Intellectual disability syndromic and non-syndromic v0.1257 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1257 ZNF507 Zornitza Stark Marked gene: ZNF507 as ready
Intellectual disability syndromic and non-syndromic v0.1257 ZNF507 Zornitza Stark Gene: znf507 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1257 ZNF674 Zornitza Stark Marked gene: ZNF674 as ready
Intellectual disability syndromic and non-syndromic v0.1257 ZNF674 Zornitza Stark Gene: znf674 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1257 ZNF674 Zornitza Stark Publications for gene: ZNF674 were set to
Intellectual disability syndromic and non-syndromic v0.1256 ZNF804A Zornitza Stark Marked gene: ZNF804A as ready
Intellectual disability syndromic and non-syndromic v0.1256 ZNF804A Zornitza Stark Gene: znf804a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1256 ZNHIT6 Zornitza Stark Marked gene: ZNHIT6 as ready
Intellectual disability syndromic and non-syndromic v0.1256 ZNHIT6 Zornitza Stark Gene: znhit6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1256 MEGF8 Zornitza Stark Marked gene: MEGF8 as ready
Intellectual disability syndromic and non-syndromic v0.1256 MEGF8 Zornitza Stark Gene: megf8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1256 MEGF8 Zornitza Stark Publications for gene: MEGF8 were set to
Intellectual disability syndromic and non-syndromic v0.1255 METTL23 Zornitza Stark Marked gene: METTL23 as ready
Intellectual disability syndromic and non-syndromic v0.1255 METTL23 Zornitza Stark Gene: mettl23 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1255 MIR17HG Zornitza Stark Marked gene: MIR17HG as ready
Intellectual disability syndromic and non-syndromic v0.1255 MIR17HG Zornitza Stark Gene: mir17hg has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1255 WASF1 Zornitza Stark Marked gene: WASF1 as ready
Intellectual disability syndromic and non-syndromic v0.1255 WASF1 Zornitza Stark Gene: wasf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1255 ZNF462 Zornitza Stark Marked gene: ZNF462 as ready
Intellectual disability syndromic and non-syndromic v0.1255 ZNF462 Zornitza Stark Gene: znf462 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1255 RNF135 Zornitza Stark Marked gene: RNF135 as ready
Intellectual disability syndromic and non-syndromic v0.1255 RNF135 Zornitza Stark Gene: rnf135 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1255 ZNF462 Zornitza Stark reviewed gene: ZNF462: Rating: GREEN; Mode of pathogenicity: None; Publications: 31361404, 28513610; Phenotypes: Weiss-Kruszka syndrome, OMIM# 618619; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.1255 TTI1 Zornitza Stark Marked gene: TTI1 as ready
Intellectual disability syndromic and non-syndromic v0.1255 TTI1 Zornitza Stark Gene: tti1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1255 TTI1 Zornitza Stark Phenotypes for gene: TTI1 were changed from intellectual disability; seizures; cerebellar atrophy to Intellectual disability
Intellectual disability syndromic and non-syndromic v0.1254 TTI1 Zornitza Stark Classified gene: TTI1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1254 TTI1 Zornitza Stark Gene: tti1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1253 TTI1 Zornitza Stark gene: TTI1 was added
gene: TTI1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: TTI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTI1 were set to 26539891; 30315573
Phenotypes for gene: TTI1 were set to intellectual disability; seizures; cerebellar atrophy
Review for gene: TTI1 was set to AMBER
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1252 SLC25A4 Chirag Patel edited their review of gene: SLC25A4: Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.1252 SLC25A4 Chirag Patel edited their review of gene: SLC25A4: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.1252 SLC25A4 Chirag Patel reviewed gene: SLC25A4: Rating: ; Mode of pathogenicity: None; Publications: PMID: 30013777, 27693233; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, OMIM #617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, OMIM #615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, OMIM #609283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1252 SLC25A4 Zornitza Stark Marked gene: SLC25A4 as ready
Intellectual disability syndromic and non-syndromic v0.1252 SLC25A4 Zornitza Stark Gene: slc25a4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1252 SLC25A4 Zornitza Stark Phenotypes for gene: SLC25A4 were changed from to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283
Intellectual disability syndromic and non-syndromic v0.1251 SLC25A4 Zornitza Stark Mode of inheritance for gene: SLC25A4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1250 SLC25A4 Zornitza Stark Classified gene: SLC25A4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1250 SLC25A4 Zornitza Stark Gene: slc25a4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1249 SLC25A4 Zornitza Stark reviewed gene: SLC25A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1249 SLC29A3 Chirag Patel Classified gene: SLC29A3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1249 SLC29A3 Chirag Patel Gene: slc29a3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1248 SLC29A3 Chirag Patel Source Genetic Health Queensland was removed from SLC29A3.
Source Expert list was added to SLC29A3.
Mode of inheritance for gene SLC29A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC29A3 were changed from to Histiocytosis-lymphadenopathy plus syndrome; OMIM #602782
Intellectual disability syndromic and non-syndromic v0.1247 SLC29A3 Chirag Patel reviewed gene: SLC29A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Histiocytosis-lymphadenopathy plus syndrome, OMIM #602782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1247 SLC2A10 Chirag Patel Classified gene: SLC2A10 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1247 SLC2A10 Chirag Patel Gene: slc2a10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1246 SLC2A10 Chirag Patel Source Genetic Health Queensland was removed from SLC2A10.
Source Expert list was added to SLC2A10.
Mode of inheritance for gene SLC2A10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A10 were changed from to Arterial tortuosity syndrome; OMIM #208050
Intellectual disability syndromic and non-syndromic v0.1245 SLC2A10 Chirag Patel reviewed gene: SLC2A10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial tortuosity syndrome, OMIM #208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1245 SLC35A3 Chirag Patel Classified gene: SLC35A3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1245 SLC35A3 Chirag Patel Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1244 SLC35A3 Chirag Patel Source Genetic Health Queensland was removed from SLC35A3.
Source Expert list was added to SLC35A3.
Mode of inheritance for gene SLC35A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35A3 were changed from to ?Arthrogryposis, mental retardation, and seizures; OMIM #615553
Publications for gene SLC35A3 were changed from PMID: 28328131; 24031089 to PMID: 28328131; 24031089
Intellectual disability syndromic and non-syndromic v0.1243 SLC35A3 Chirag Patel reviewed gene: SLC35A3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28328131, 24031089; Phenotypes: ?Arthrogryposis, mental retardation, and seizures, OMIM #615553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1243 SLC39A4 Chirag Patel Classified gene: SLC39A4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1243 SLC39A4 Chirag Patel Gene: slc39a4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1242 SLC39A4 Chirag Patel Source Genetic Health Queensland was removed from SLC39A4.
Source Expert list was added to SLC39A4.
Mode of inheritance for gene SLC39A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A4 were changed from to Acrodermatitis enteropathica; OMIM #201100
Intellectual disability syndromic and non-syndromic v0.1241 SLC39A4 Chirag Patel reviewed gene: SLC39A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrodermatitis enteropathica, OMIM #201100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1241 SLC25A20 Zornitza Stark Marked gene: SLC25A20 as ready
Intellectual disability syndromic and non-syndromic v0.1241 SLC25A20 Zornitza Stark Gene: slc25a20 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1241 SLC25A20 Zornitza Stark Phenotypes for gene: SLC25A20 were changed from to Carnitine-acylcarnitine translocase deficiency, MIM#212138
Intellectual disability syndromic and non-syndromic v0.1240 SLC25A20 Zornitza Stark Mode of inheritance for gene: SLC25A20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1239 SLC25A20 Zornitza Stark Classified gene: SLC25A20 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1239 SLC25A20 Zornitza Stark Gene: slc25a20 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1238 SLC5A2 Chirag Patel Classified gene: SLC5A2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1238 SLC5A2 Chirag Patel Gene: slc5a2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1237 SLC25A20 Zornitza Stark reviewed gene: SLC25A20: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Carnitine-acylcarnitine translocase deficiency, MIM#212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1237 SLC5A2 Chirag Patel Source Genetic Health Queensland was removed from SLC5A2.
Source Expert list was added to SLC5A2.
Mode of inheritance for gene SLC5A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A2 were changed from to Renal glucosuria; OMIM #233100
Intellectual disability syndromic and non-syndromic v0.1236 SLC5A2 Chirag Patel reviewed gene: SLC5A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal glucosuria, OMIM #233100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1236 SLC9A7 Chirag Patel Classified gene: SLC9A7 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1236 SLC9A7 Chirag Patel Gene: slc9a7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1235 SLC9A7 Chirag Patel Source Genetic Health Queensland was removed from SLC9A7.
Source Expert list was added to SLC9A7.
Mode of inheritance for gene SLC9A7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC9A7 were changed from to Intellectual developmental disorder, X-linked 108; OMIM #301024
Publications for gene SLC9A7 were changed from PubMed: 30335141 to PubMed: 30335141
Intellectual disability syndromic and non-syndromic v0.1234 SLC9A7 Chirag Patel reviewed gene: SLC9A7: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30335141; Phenotypes: Intellectual developmental disorder, X-linked 108, OMIM #301024; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1234 SMCHD1 Chirag Patel Classified gene: SMCHD1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1234 SMCHD1 Chirag Patel Gene: smchd1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1233 SLC25A19 Zornitza Stark Marked gene: SLC25A19 as ready
Intellectual disability syndromic and non-syndromic v0.1233 SLC25A19 Zornitza Stark Gene: slc25a19 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1233 SLC25A19 Zornitza Stark Phenotypes for gene: SLC25A19 were changed from to Microcephaly, Amish type, MIM#607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710
Intellectual disability syndromic and non-syndromic v0.1233 SMCHD1 Chirag Patel Source Genetic Health Queensland was removed from SMCHD1.
Source Expert list was added to SMCHD1.
Mode of inheritance for gene SMCHD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMCHD1 were changed from to Bosma arhinia microphthalmia syndrome, OMIM #603457; Fascioscapulohumeral muscular dystrophy 2, digenic; OMIM #158901
Intellectual disability syndromic and non-syndromic v0.1232 SLC25A19 Zornitza Stark Publications for gene: SLC25A19 were set to
Intellectual disability syndromic and non-syndromic v0.1231 SMCHD1 Chirag Patel reviewed gene: SMCHD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bosma arhinia microphthalmia syndrome, OMIM #603457, Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM #158901; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1231 SLC25A19 Zornitza Stark Mode of inheritance for gene: SLC25A19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1230 SLC25A19 Zornitza Stark Classified gene: SLC25A19 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1230 SLC25A19 Zornitza Stark Gene: slc25a19 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1229 SLC25A19 Zornitza Stark reviewed gene: SLC25A19: Rating: AMBER; Mode of pathogenicity: None; Publications: 31506564, 31295743, 12185364, 19798730; Phenotypes: Microcephaly, Amish type, MIM#607196, Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1229 SMG6 Chirag Patel Classified gene: SMG6 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1229 SMG6 Chirag Patel Gene: smg6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1228 SMG6 Chirag Patel reviewed gene: SMG6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1228 SNAP25 Chirag Patel Classified gene: SNAP25 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1228 SNAP25 Chirag Patel Gene: snap25 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1227 SNAP25 Chirag Patel gene: SNAP25 was added
gene: SNAP25 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SNAP25 were set to PMID: 25003006; 29100083; 28135719
Phenotypes for gene: SNAP25 were set to ?Myasthenic syndrome, congenital, 18; OMIM #616330
Review for gene: SNAP25 was set to GREEN
Added comment: ID neurodevelopmental disorder rather than muscle disorder, so OMIM entry needs to be edited.
> 5 patients reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1226 SLC25A13 Zornitza Stark Marked gene: SLC25A13 as ready
Intellectual disability syndromic and non-syndromic v0.1226 SLC25A13 Zornitza Stark Gene: slc25a13 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1226 SLC25A13 Zornitza Stark Phenotypes for gene: SLC25A13 were changed from to Citrullinemia, type II, neonatal-onset, MIM#605814
Intellectual disability syndromic and non-syndromic v0.1225 SLC25A13 Zornitza Stark Mode of inheritance for gene: SLC25A13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1224 SLC25A13 Zornitza Stark Classified gene: SLC25A13 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1224 SLC25A13 Zornitza Stark Gene: slc25a13 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1223 SLC25A13 Zornitza Stark reviewed gene: SLC25A13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Citrullinemia, type II, neonatal-onset, MIM#605814; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1223 SLC22A5 Zornitza Stark Marked gene: SLC22A5 as ready
Intellectual disability syndromic and non-syndromic v0.1223 SLC22A5 Zornitza Stark Gene: slc22a5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1223 SLC22A5 Zornitza Stark Phenotypes for gene: SLC22A5 were changed from to Carnitine deficiency, systemic primary, MIM#212140
Intellectual disability syndromic and non-syndromic v0.1222 SLC22A5 Zornitza Stark Classified gene: SLC22A5 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1222 SLC22A5 Zornitza Stark Gene: slc22a5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1221 SLC22A5 Zornitza Stark reviewed gene: SLC22A5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Carnitine deficiency, systemic primary, MIM#212140; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1221 SNRPA Chirag Patel Classified gene: SNRPA as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1221 SNRPA Chirag Patel Gene: snrpa has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1220 SNRPA Chirag Patel Source Genetic Health Queensland was removed from SNRPA.
Source Expert list was added to SNRPA.
Mode of inheritance for gene SNRPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNRPA were changed from to no OMIM # yet
Publications for gene SNRPA were changed from PMID: 29437235 to PMID: 29437235
Intellectual disability syndromic and non-syndromic v0.1219 SNRPA Chirag Patel reviewed gene: SNRPA: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29437235; Phenotypes: no OMIM number yet; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1219 SLC20A2 Zornitza Stark Marked gene: SLC20A2 as ready
Intellectual disability syndromic and non-syndromic v0.1219 SLC20A2 Zornitza Stark Gene: slc20a2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1219 SLC20A2 Zornitza Stark Phenotypes for gene: SLC20A2 were changed from to Basal ganglia calcification, idiopathic, 1, MIM#213600
Intellectual disability syndromic and non-syndromic v0.1218 SLC20A2 Zornitza Stark Mode of inheritance for gene: SLC20A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1217 SLC20A2 Zornitza Stark Classified gene: SLC20A2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1217 SLC20A2 Zornitza Stark Gene: slc20a2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1216 SLC20A2 Zornitza Stark reviewed gene: SLC20A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal ganglia calcification, idiopathic, 1, MIM#213600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1216 SNRPN Chirag Patel Classified gene: SNRPN as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1216 SNRPN Chirag Patel Gene: snrpn has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1215 SNRPN Chirag Patel Source Genetic Health Queensland was removed from SNRPN.
Source Expert list was added to SNRPN.
Mode of inheritance for gene SNRPN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes for gene: SNRPN were changed from to Prader-Willi syndrome; OMIM #176270
Intellectual disability syndromic and non-syndromic v0.1214 SNRPN Chirag Patel reviewed gene: SNRPN: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Prader-Willi syndrome, OMIM #176270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Intellectual disability syndromic and non-syndromic v0.1214 SLC1A3 Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.1214 SLC1A3 Zornitza Stark commented on gene: SLC1A3: ID is not part of the phenotype.
Intellectual disability syndromic and non-syndromic v0.1214 SOST Chirag Patel Classified gene: SOST as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1214 SOST Chirag Patel Gene: sost has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1213 SOST Chirag Patel Source Genetic Health Queensland was removed from SOST.
Source Expert list was added to SOST.
Mode of inheritance for gene SOST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SOST were changed from to Craniodiaphyseal dysplasia, autosomal dominant, OMIM #122860; Sclerosteosis 1 , OMIM #269500; Van Buchem disease, OMIM #239100
Intellectual disability syndromic and non-syndromic v0.1212 SOST Chirag Patel reviewed gene: SOST: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniodiaphyseal dysplasia, autosomal dominant, OMIM #122860, Sclerosteosis 1 , OMIM #269500, Van Buchem disease, OMIM #239100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1212 SP7 Chirag Patel Classified gene: SP7 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1212 SP7 Chirag Patel Gene: sp7 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1211 SP7 Chirag Patel reviewed gene: SP7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type XII, OMIM # 613849; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1211 SLC1A3 Zornitza Stark Marked gene: SLC1A3 as ready
Intellectual disability syndromic and non-syndromic v0.1211 SLC1A3 Zornitza Stark Gene: slc1a3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1211 SLC1A3 Zornitza Stark Phenotypes for gene: SLC1A3 were changed from to Episodic ataxia, type 6, MIM#612656
Intellectual disability syndromic and non-syndromic v0.1210 SLC1A3 Zornitza Stark Mode of inheritance for gene: SLC1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1209 SLC1A3 Zornitza Stark Classified gene: SLC1A3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1209 SLC1A3 Zornitza Stark Gene: slc1a3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1208 SLC1A3 Zornitza Stark reviewed gene: SLC1A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Episodic ataxia, type 6, MIM#612656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1208 SPART Chirag Patel Source Genetic Health Queensland was removed from SPART.
Source Expert list was added to SPART.
Mode of inheritance for gene SPART was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPART were changed from to Troyer syndrome; OMIM #275900
Publications for gene SPART were changed from PMID: 26003402; 28679690; 27112432; 20437587; 12134148; 18413476; 31314595; 28875386 to PMID: 26003402; 28679690; 27112432; 20437587; 12134148; 18413476; 31314595; 28875386
Intellectual disability syndromic and non-syndromic v0.1207 SPART Chirag Patel edited their review of gene: SPART: Changed publications: PMID: 26003402, 28679690, 27112432, 20437587, 12134148, 18413476, 31314595, 28875386
Intellectual disability syndromic and non-syndromic v0.1207 SPART Chirag Patel changed review comment from: > 5 families reported, with ID as part of phenotype.; to: Numerous families reported, with ID as part of phenotype.
Intellectual disability syndromic and non-syndromic v0.1207 SPART Chirag Patel reviewed gene: SPART: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26003402, 28679690, 27112432, 20437587, 12134148, 18413476; Phenotypes: Troyer syndrome, OMIM # 275900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1207 SPEG Chirag Patel Classified gene: SPEG as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1207 SPEG Chirag Patel Gene: speg has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1206 SPEG Chirag Patel Source Genetic Health Queensland was removed from SPEG.
Source Expert list was added to SPEG.
Mode of inheritance for gene SPEG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPEG were changed from to Centronuclear myopathy 5; OMIM #615959
Intellectual disability syndromic and non-syndromic v0.1205 SPEG Chirag Patel reviewed gene: SPEG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Centronuclear myopathy 5, OMIM #615959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1205 SLC1A1 Zornitza Stark Marked gene: SLC1A1 as ready
Intellectual disability syndromic and non-syndromic v0.1205 SLC1A1 Zornitza Stark Gene: slc1a1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1205 SLC1A1 Zornitza Stark Phenotypes for gene: SLC1A1 were changed from to Dicarboxylic aminoaciduria, MIM#222730
Intellectual disability syndromic and non-syndromic v0.1204 SLC1A1 Zornitza Stark Mode of inheritance for gene: SLC1A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1203 SLC1A1 Zornitza Stark reviewed gene: SLC1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dicarboxylic aminoaciduria, MIM#222730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1203 SLC19A2 Zornitza Stark Marked gene: SLC19A2 as ready
Intellectual disability syndromic and non-syndromic v0.1203 SLC19A2 Zornitza Stark Gene: slc19a2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1203 SLC19A2 Zornitza Stark Phenotypes for gene: SLC19A2 were changed from to Thiamine-responsive megaloblastic anemia syndrome, MIM#249270
Intellectual disability syndromic and non-syndromic v0.1202 SLC19A2 Zornitza Stark Mode of inheritance for gene: SLC19A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1201 SLC19A2 Zornitza Stark Classified gene: SLC19A2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1201 SLC19A2 Zornitza Stark Gene: slc19a2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1200 SLC19A2 Zornitza Stark reviewed gene: SLC19A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thiamine-responsive megaloblastic anemia syndrome, MIM#249270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1200 SLC12A1 Zornitza Stark Marked gene: SLC12A1 as ready
Intellectual disability syndromic and non-syndromic v0.1200 SLC12A1 Zornitza Stark Gene: slc12a1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1200 SLC12A1 Zornitza Stark Phenotypes for gene: SLC12A1 were changed from to Bartter syndrome, type 1, MIM#601678
Intellectual disability syndromic and non-syndromic v0.1199 SLC12A1 Zornitza Stark Mode of inheritance for gene: SLC12A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1198 SLC12A1 Zornitza Stark Classified gene: SLC12A1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1198 SLC12A1 Zornitza Stark Gene: slc12a1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1197 SLC12A1 Zornitza Stark reviewed gene: SLC12A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bartter syndrome, type 1, MIM#601678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1197 SH3TC2 Zornitza Stark Marked gene: SH3TC2 as ready
Intellectual disability syndromic and non-syndromic v0.1197 SH3TC2 Zornitza Stark Gene: sh3tc2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1197 SH3TC2 Zornitza Stark Phenotypes for gene: SH3TC2 were changed from to Charcot-Marie-Tooth disease, type 4C, MIM#601596
Intellectual disability syndromic and non-syndromic v0.1196 SH3TC2 Zornitza Stark Mode of inheritance for gene: SH3TC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1195 SH3TC2 Zornitza Stark Classified gene: SH3TC2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1195 SH3TC2 Zornitza Stark Gene: sh3tc2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1194 SH3TC2 Zornitza Stark reviewed gene: SH3TC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4C, MIM#601596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1194 SPG7 Chirag Patel Source Genetic Health Queensland was removed from SPG7.
Source Expert list was added to SPG7.
Mode of inheritance for gene SPG7 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SPG7 were changed from to Spastic paraplegia 7, autosomal recessive; OMIM #607259
Intellectual disability syndromic and non-syndromic v0.1193 SPG7 Chirag Patel reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 7, autosomal recessive, OMIM #607259; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1193 SPINK5 Chirag Patel Classified gene: SPINK5 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1193 SPINK5 Chirag Patel Gene: spink5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1192 SPINK5 Chirag Patel Source Genetic Health Queensland was removed from SPINK5.
Source Expert list was added to SPINK5.
Mode of inheritance for gene SPINK5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPINK5 were changed from to Netherton syndrome; OMIM #256500
Intellectual disability syndromic and non-syndromic v0.1191 SPINK5 Chirag Patel reviewed gene: SPINK5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Netherton syndrome, OMIM #256500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1191 SPTLC1 Chirag Patel Classified gene: SPTLC1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1191 SPTLC1 Chirag Patel Gene: sptlc1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1190 SPTLC1 Chirag Patel Source Genetic Health Queensland was removed from SPTLC1.
Source Expert list was added to SPTLC1.
Mode of inheritance for gene SPTLC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPTLC1 were changed from to Neuropathy, hereditary sensory and autonomic, type IA; OMIM #162400
Intellectual disability syndromic and non-syndromic v0.1189 SPTLC1 Chirag Patel reviewed gene: SPTLC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IA, OMIM #162400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1189 ST3GAL5 Chirag Patel Source Genetic Health Queensland was removed from ST3GAL5.
Source Expert list was added to ST3GAL5.
Mode of inheritance for gene ST3GAL5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST3GAL5 were changed from to Salt and pepper developmental regression syndrome; OMIM #609056
Publications for gene ST3GAL5 were changed from PubMed: 15502825; 22990144; 24026681; 27232954; 30185102; 24026681 to PubMed: 15502825; 22990144; 24026681; 27232954; 30185102; 24026681
Intellectual disability syndromic and non-syndromic v0.1188 ST3GAL5 Chirag Patel reviewed gene: ST3GAL5: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 15502825, 22990144, 24026681, 27232954, 30185102, 24026681; Phenotypes: Salt and pepper developmental regression syndrome, OMIM #609056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1188 ST7 Chirag Patel Classified gene: ST7 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1188 ST7 Chirag Patel Gene: st7 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1187 ST7 Chirag Patel reviewed gene: ST7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1187 STAC3 Chirag Patel Classified gene: STAC3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1187 STAC3 Chirag Patel Gene: stac3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1186 STAC3 Chirag Patel Source Genetic Health Queensland was removed from STAC3.
Source Expert list was added to STAC3.
Mode of inheritance for gene STAC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAC3 were changed from to Myopathy, congenital, Baily-Bloch; OMIM #255995
Intellectual disability syndromic and non-syndromic v0.1185 STAC3 Chirag Patel reviewed gene: STAC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, congenital, Baily-Bloch, OMIM #255995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1185 STAT5B Chirag Patel Classified gene: STAT5B as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1185 STAT5B Chirag Patel Gene: stat5b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1184 STAT5B Chirag Patel Source Genetic Health Queensland was removed from STAT5B.
Source Expert list was added to STAT5B.
Mode of inheritance for gene STAT5B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAT5B were changed from to Growth hormone insensitivity with immunodeficiency; OMIM #245590
Intellectual disability syndromic and non-syndromic v0.1183 STAT5B Chirag Patel edited their review of gene: STAT5B: Changed phenotypes: Growth hormone insensitivity with immunodeficiency, OMIM #245590; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1183 STAT5B Chirag Patel reviewed gene: STAT5B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1183 STK3 Chirag Patel Classified gene: STK3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1183 STK3 Chirag Patel Gene: stk3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1182 STK3 Chirag Patel reviewed gene: STK3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1182 STT3A Chirag Patel Classified gene: STT3A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1182 STT3A Chirag Patel Gene: stt3a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1181 STT3A Chirag Patel Source Genetic Health Queensland was removed from STT3A.
Source Expert list was added to STT3A.
Mode of inheritance for gene STT3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STT3A were changed from to ?Congenital disorder of glycosylation, type Iw; OMIM #615596
Publications for gene STT3A were changed from PMID: 23842455 to PMID: 23842455
Intellectual disability syndromic and non-syndromic v0.1180 STT3A Chirag Patel reviewed gene: STT3A: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23842455; Phenotypes: ?Congenital disorder of glycosylation, type Iw, OMIM #615596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1180 STT3B Chirag Patel Classified gene: STT3B as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1180 STT3B Chirag Patel Gene: stt3b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1179 STT3B Chirag Patel Source Genetic Health Queensland was removed from STT3B.
Source Expert list was added to STT3B.
Mode of inheritance for gene STT3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STT3B were changed from to ?Congenital disorder of glycosylation, type Ix; OMIM #615597
Publications for gene STT3B were changed from PMID: 23842455 to PMID: 23842455
Intellectual disability syndromic and non-syndromic v0.1178 STT3B Chirag Patel reviewed gene: STT3B: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23842455; Phenotypes: ?Congenital disorder of glycosylation, type Ix, OMIM #615597; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1178 SUCLA2 Chirag Patel Source Genetic Health Queensland was removed from SUCLA2.
Source Expert list was added to SUCLA2.
Mode of inheritance for gene SUCLA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLA2 were changed from to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria); OMIM #612073
Publications for gene SUCLA2 were changed from PMID: 27913098; 15877282; 23759946; 17287286; 17301081 to PMID: 27913098; 15877282; 23759946; 17287286; 17301081
Intellectual disability syndromic and non-syndromic v0.1177 SUCLA2 Chirag Patel reviewed gene: SUCLA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27913098, 15877282, 23759946, 17287286, 17301081; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM #612073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal