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Cardiomyopathy_Paediatric v0.13 EYA4 Zornitza Stark Phenotypes for gene: EYA4 were changed from Cardiomyopathy, dilated, 1J to Cardiomyopathy, dilated, 1J, MIM# 605362
Cardiomyopathy_Paediatric v0.12 EYA4 Zornitza Stark Publications for gene: EYA4 were set to
Cardiomyopathy_Paediatric v0.11 EYA4 Zornitza Stark reviewed gene: EYA4: Rating: AMBER; Mode of pathogenicity: None; Publications: 10769282, 30155266; Phenotypes: Cardiomyopathy, dilated, 1J, MIM# 605362; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4639 EYA4 Zornitza Stark Phenotypes for gene: EYA4 were changed from to Deafness, autosomal dominant 10, MIM# 601316; Cardiomyopathy, dilated, 1J, MIM# 605362
Mendeliome v0.4638 EYA4 Zornitza Stark Publications for gene: EYA4 were set to
Mendeliome v0.4637 EYA4 Zornitza Stark Mode of inheritance for gene: EYA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4636 EYA4 Zornitza Stark reviewed gene: EYA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11159937, ​17568404, 25681523, 25963406, 25242383, 26331839, 18219393, 27545760, 15735644, 10769282, 30155266; Phenotypes: Deafness, autosomal dominant 10, MIM# 601316, Cardiomyopathy, dilated, 1J, MIM# 605362; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.464 EYA4 Zornitza Stark Marked gene: EYA4 as ready
Deafness_IsolatedAndComplex v0.464 EYA4 Zornitza Stark Gene: eya4 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.464 EYA4 Zornitza Stark Phenotypes for gene: EYA4 were changed from to Deafness, autosomal dominant 10, MIM# 601316
Deafness_IsolatedAndComplex v0.463 EYA4 Zornitza Stark Publications for gene: EYA4 were set to
Deafness_IsolatedAndComplex v0.462 EYA4 Zornitza Stark Mode of inheritance for gene: EYA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.461 EYA4 Zornitza Stark reviewed gene: EYA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11159937, ​17568404, 25681523, 25963406, 25242383, 26331839, 18219393, 27545760, 15735644; Phenotypes: Deafness, autosomal dominant 10, MIM# 601316; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.461 EYA1 Zornitza Stark Marked gene: EYA1 as ready
Deafness_IsolatedAndComplex v0.461 EYA1 Zornitza Stark Gene: eya1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.461 EYA1 Zornitza Stark Phenotypes for gene: EYA1 were changed from to Branchiootic syndrome 1, MIM# 602588
Deafness_IsolatedAndComplex v0.460 EYA1 Zornitza Stark Mode of inheritance for gene: EYA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.459 EYA1 Zornitza Stark reviewed gene: EYA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiootic syndrome 1, MIM# 602588; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.89 ESPN Zornitza Stark Marked gene: ESPN as ready
Additional findings_Paediatric v0.89 ESPN Zornitza Stark Gene: espn has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.89 ESPN Zornitza Stark Phenotypes for gene: ESPN were changed from Hearing loss to Deafness, autosomal recessive 36, MIM# 609006
Additional findings_Paediatric v0.88 ESPN Zornitza Stark Publications for gene: ESPN were set to
Additional findings_Paediatric v0.87 ESPN Zornitza Stark Classified gene: ESPN as Green List (high evidence)
Additional findings_Paediatric v0.87 ESPN Zornitza Stark Gene: espn has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.86 ESPN Zornitza Stark reviewed gene: ESPN: Rating: GREEN; Mode of pathogenicity: None; Publications: 15286153, 18973245, 26445815, 28281779, 10975527, 15930085; Phenotypes: Deafness, autosomal recessive 36, MIM# 609006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Usher Syndrome v0.15 ESPN Zornitza Stark Marked gene: ESPN as ready
Usher Syndrome v0.15 ESPN Zornitza Stark Gene: espn has been classified as Red List (Low Evidence).
Usher Syndrome v0.15 ESPN Zornitza Stark Phenotypes for gene: ESPN were changed from ?Usher syndrome, type 1M, 618632; Deafness, autosomal recessive 36, 609006 to Usher syndrome, type 1M, MIM#618632
Usher Syndrome v0.14 ESPN Zornitza Stark Publications for gene: ESPN were set to
Usher Syndrome v0.13 ESPN Zornitza Stark Classified gene: ESPN as Red List (low evidence)
Usher Syndrome v0.13 ESPN Zornitza Stark Gene: espn has been classified as Red List (Low Evidence).
Usher Syndrome v0.12 ESPN Zornitza Stark reviewed gene: ESPN: Rating: RED; Mode of pathogenicity: None; Publications: 29572253; Phenotypes: Usher syndrome, type 1M, MIM# 618632; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4636 ESPN Zornitza Stark Marked gene: ESPN as ready
Mendeliome v0.4636 ESPN Zornitza Stark Gene: espn has been classified as Green List (High Evidence).
Mendeliome v0.4636 ESPN Zornitza Stark Phenotypes for gene: ESPN were changed from to Deafness, autosomal recessive 36, MIM# 609006; Deafness, neurosensory, without vestibular involvement, autosomal dominant, MIM# 609006
Mendeliome v0.4635 ESPN Zornitza Stark Publications for gene: ESPN were set to
Mendeliome v0.4634 ESPN Zornitza Stark Mode of inheritance for gene: ESPN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.4633 ESPN Zornitza Stark reviewed gene: ESPN: Rating: GREEN; Mode of pathogenicity: None; Publications: 15286153, 18973245, 26445815, 28281779, 10975527, 15930085; Phenotypes: Deafness, autosomal recessive 36, MIM# 609006, Deafness, neurosensory, without vestibular involvement, autosomal dominant, MIM# 609006; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.459 ESPN Zornitza Stark Marked gene: ESPN as ready
Deafness_IsolatedAndComplex v0.459 ESPN Zornitza Stark Gene: espn has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.459 ESPN Zornitza Stark Phenotypes for gene: ESPN were changed from to Deafness, autosomal recessive 36, MIM# 609006; Deafness, neurosensory, without vestibular involvement, autosomal dominant, MIM# 609006
Deafness_IsolatedAndComplex v0.458 ESPN Zornitza Stark Publications for gene: ESPN were set to
Deafness_IsolatedAndComplex v0.457 ESPN Zornitza Stark Mode of inheritance for gene: ESPN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.456 ESPN Zornitza Stark reviewed gene: ESPN: Rating: GREEN; Mode of pathogenicity: None; Publications: 15286153, 18973245, 26445815, 28281779, 10975527, 15930085; Phenotypes: Deafness, autosomal recessive 36, MIM# 609006, Deafness, neurosensory, without vestibular involvement, autosomal dominant, MIM# 609006; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.456 DIAPH1 Zornitza Stark Marked gene: DIAPH1 as ready
Deafness_IsolatedAndComplex v0.456 DIAPH1 Zornitza Stark Gene: diaph1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.456 DIAPH1 Zornitza Stark Phenotypes for gene: DIAPH1 were changed from to Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900
Deafness_IsolatedAndComplex v0.455 DIAPH1 Zornitza Stark Publications for gene: DIAPH1 were set to
Deafness_IsolatedAndComplex v0.454 DIAPH1 Zornitza Stark Mode of pathogenicity for gene: DIAPH1 was changed from to None
Deafness_IsolatedAndComplex v0.453 DIAPH1 Zornitza Stark Mode of inheritance for gene: DIAPH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4633 PRIMPOL Zornitza Stark edited their review of gene: PRIMPOL: Changed rating: RED
Mendeliome v0.4633 PRIMPOL Seb Lunke commented on gene: PRIMPOL
Mendeliome v0.4633 DFNB59 Zornitza Stark Marked gene: DFNB59 as ready
Mendeliome v0.4633 DFNB59 Zornitza Stark Gene: dfnb59 has been classified as Green List (High Evidence).
Mendeliome v0.4633 DFNB59 Zornitza Stark Phenotypes for gene: DFNB59 were changed from to Deafness, autosomal recessive 59, MIM# 610220
Mendeliome v0.4632 DFNB59 Zornitza Stark Publications for gene: DFNB59 were set to
Mendeliome v0.4631 DFNB59 Zornitza Stark Mode of inheritance for gene: DFNB59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4630 DFNB59 Zornitza Stark reviewed gene: DFNB59: Rating: GREEN; Mode of pathogenicity: None; Publications: 16804542, 26166082, 22617256, 28964305, 17373699, 25631766, 28209736; Phenotypes: Deafness, autosomal recessive 59, MIM# 610220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.452 DFNB59 Zornitza Stark Marked gene: DFNB59 as ready
Deafness_IsolatedAndComplex v0.452 DFNB59 Zornitza Stark Gene: dfnb59 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.452 DFNB59 Zornitza Stark Phenotypes for gene: DFNB59 were changed from to Deafness, autosomal recessive 59, MIM# 610220
Deafness_IsolatedAndComplex v0.451 DFNB59 Zornitza Stark Publications for gene: DFNB59 were set to
Deafness_IsolatedAndComplex v0.450 DFNB59 Zornitza Stark Mode of inheritance for gene: DFNB59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.449 DFNB59 Zornitza Stark changed review comment from: DEFINITIVE by ClinGen, over 50 affected individuals from more than 10 families reported, supportive functional data including animal models.; to: DEFINITIVE by ClinGen, over 50 affected individuals from more than 10 families reported, supportive functional data including animal models.

New HGNC name is PJVK.
Deafness_IsolatedAndComplex v0.449 DFNB59 Zornitza Stark reviewed gene: DFNB59: Rating: GREEN; Mode of pathogenicity: None; Publications: 16804542, 26166082, 22617256, 28964305, 17373699, 25631766, 28209736; Phenotypes: Deafness, autosomal recessive 59, MIM# 610220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.449 DFNB59 Zornitza Stark Tag new gene name tag was added to gene: DFNB59.
Mendeliome v0.4630 DFNA5 Zornitza Stark Marked gene: DFNA5 as ready
Mendeliome v0.4630 DFNA5 Zornitza Stark Gene: dfna5 has been classified as Green List (High Evidence).
Mendeliome v0.4630 DFNA5 Zornitza Stark Phenotypes for gene: DFNA5 were changed from to Deafness, autosomal dominant 5, MIM# 600994
Mendeliome v0.4629 DFNA5 Zornitza Stark Publications for gene: DFNA5 were set to
Mendeliome v0.4628 DFNA5 Zornitza Stark Mode of inheritance for gene: DFNA5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4627 DFNA5 Zornitza Stark Tag new gene name tag was added to gene: DFNA5.
Mendeliome v0.4627 DFNA5 Zornitza Stark reviewed gene: DFNA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 9771715, 14676472, ​14559215, 24933359, 17868390, 24506266, 12853124, 14736743, 22848872; Phenotypes: Deafness, autosomal dominant 5, MIM# 600994; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.449 DFNA5 Zornitza Stark Marked gene: DFNA5 as ready
Deafness_IsolatedAndComplex v0.449 DFNA5 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is GSDME
Deafness_IsolatedAndComplex v0.449 DFNA5 Zornitza Stark Gene: dfna5 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.449 DFNA5 Zornitza Stark Phenotypes for gene: DFNA5 were changed from to Deafness, autosomal dominant 5, MIM# 600994
Deafness_IsolatedAndComplex v0.448 DFNA5 Zornitza Stark Publications for gene: DFNA5 were set to
Deafness_IsolatedAndComplex v0.447 DFNA5 Zornitza Stark Mode of inheritance for gene: DFNA5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.446 DFNA5 Zornitza Stark Tag new gene name tag was added to gene: DFNA5.
Deafness_IsolatedAndComplex v0.446 DFNA5 Zornitza Stark reviewed gene: DFNA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 9771715, 14676472, ​14559215, 24933359, 17868390, 24506266, 12853124, 14736743, 22848872; Phenotypes: Deafness, autosomal dominant 5, MIM# 600994; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.446 COL9A3 Zornitza Stark Marked gene: COL9A3 as ready
Deafness_IsolatedAndComplex v0.446 COL9A3 Zornitza Stark Gene: col9a3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.446 COL9A3 Zornitza Stark Phenotypes for gene: COL9A3 were changed from to Stickler syndrome
Deafness_IsolatedAndComplex v0.445 COL9A3 Zornitza Stark Publications for gene: COL9A3 were set to
Deafness_IsolatedAndComplex v0.444 COL9A3 Zornitza Stark Mode of inheritance for gene: COL9A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.443 COL9A3 Zornitza Stark reviewed gene: COL9A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30450842, 31090205, 24273071; Phenotypes: Stickler syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.89 C9orf72 Bryony Thompson Marked STR: C9orf72 as ready
Early-onset Parkinson disease v0.89 C9orf72 Bryony Thompson Str: c9orf72 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.89 C9orf72 Bryony Thompson Classified STR: C9orf72 as Green List (high evidence)
Early-onset Parkinson disease v0.89 C9orf72 Bryony Thompson Str: c9orf72 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.88 C9orf72 Bryony Thompson STR: C9orf72 was added
STR: C9orf72 was added to Early-onset Parkinson disease. Sources: Expert list
STR tags were added to STR: C9orf72.
Mode of inheritance for STR: C9orf72 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: C9orf72 were set to 25577942; 31779815
Phenotypes for STR: C9orf72 were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550
Review for STR: C9orf72 was set to GREEN
STR: C9orf72 was marked as clinically relevant
Added comment: NG_031977​.1:g.5321GGGGCC[X] Repeat expansion affects the protein degradation pathways and may contribute to TDP‐43 accumulation Normal alleles: ≤25 G4C2 hexanucleotide repeat units generally considered normal Pathogenic high-penetrance alleles: ≥60 G4C2 hexanucleotide repeat units are considered pathogenic Note: The minimal size of a G4C2 pathogenic repeat is under debate: some studies consider repeats of >30 G4C2 hexanucleotide repeat units as pathogenic, whereas others use a cutoff of 60 G4C2 hexanucleotide repeat units.
Sources: Expert list
Early-onset Parkinson disease v0.87 C9orf72 Bryony Thompson Classified gene: C9orf72 as No list
Early-onset Parkinson disease v0.87 C9orf72 Bryony Thompson Gene: c9orf72 has been removed from the panel.
Early-onset Parkinson disease v0.86 HTT Bryony Thompson Classified gene: HTT as No list
Early-onset Parkinson disease v0.86 HTT Bryony Thompson Gene: htt has been removed from the panel.
Early-onset Parkinson disease v0.85 RIC3 Bryony Thompson Marked gene: RIC3 as ready
Early-onset Parkinson disease v0.85 RIC3 Bryony Thompson Gene: ric3 has been classified as Red List (Low Evidence).
Early-onset Parkinson disease v0.85 RIC3 Bryony Thompson gene: RIC3 was added
gene: RIC3 was added to Early-onset Parkinson disease. Sources: Other
Mode of inheritance for gene: RIC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RIC3 were set to 27055476; 28153381; 28606768; 32794657
Phenotypes for gene: RIC3 were set to Parkinson disease
Review for gene: RIC3 was set to RED
Added comment: Segregation reported in a single Indian family (PMID: 27055476), with limited in vitro functional assays. The variant is present in the South Asian population in gnomAD v2.1 14/30,596 alleles. The association has not been replicated in any additional studies.
Sources: Other
Mendeliome v0.4627 RIC3 Bryony Thompson Marked gene: RIC3 as ready
Mendeliome v0.4627 RIC3 Bryony Thompson Gene: ric3 has been classified as Red List (Low Evidence).
Mendeliome v0.4627 RIC3 Bryony Thompson Classified gene: RIC3 as Red List (low evidence)
Mendeliome v0.4627 RIC3 Bryony Thompson Gene: ric3 has been classified as Red List (Low Evidence).
Mendeliome v0.4626 RIC3 Bryony Thompson reviewed gene: RIC3: Rating: RED; Mode of pathogenicity: None; Publications: 27055476, 28153381, 28606768, 32794657; Phenotypes: Parkinson disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4626 PRIMPOL Zornitza Stark Tag disputed tag was added to gene: PRIMPOL.
Mendeliome v0.4626 PRIMPOL Zornitza Stark Classified gene: PRIMPOL as Red List (low evidence)
Mendeliome v0.4626 PRIMPOL Zornitza Stark Gene: primpol has been classified as Red List (Low Evidence).
Mitochondrial disease v0.506 MIEF2 Zornitza Stark Phenotypes for gene: MIEF2 were changed from Progressive muscle weakness; Exercise intolerance; Ragged red and COX negative fibres; Complex I and IV deficiency to Combined oxidative phosphorylation deficiency 49, MIM# 619024; Progressive muscle weakness; Exercise intolerance; Ragged red and COX negative fibres; Complex I and IV deficiency
Mendeliome v0.4625 MIEF2 Zornitza Stark Phenotypes for gene: MIEF2 were changed from Progressive muscle weakness; Exercise intolerance; Ragged red and COX negative fibres; Complex I and IV deficiency to Combined oxidative phosphorylation deficiency 49, MIM# 619024; Progressive muscle weakness; Exercise intolerance; Ragged red and COX negative fibres; Complex I and IV deficiency
Mendeliome v0.4624 MRPS25 Zornitza Stark Phenotypes for gene: MRPS25 were changed from Dyskinetic cerebral palsy; Mitochondrial myopathy; Partial agenesis of the corpus callosum to Combined oxidative phosphorylation deficiency 50, MIM# 619025; Dyskinetic cerebral palsy; Mitochondrial myopathy; Partial agenesis of the corpus callosum
Mendeliome v0.4623 MRPS25 Zornitza Stark edited their review of gene: MRPS25: Changed phenotypes: Combined oxidative phosphorylation deficiency 50, MIM# 619025, Dyskinetic cerebral palsy, Mitochondrial myopathy, Partial agenesis of the corpus callosum
Mitochondrial disease v0.505 MRPS25 Zornitza Stark Phenotypes for gene: MRPS25 were changed from Dyskinetic cerebral palsy; Mitochondrial myopathy; Partial agenesis of the corpus callosum to Combined oxidative phosphorylation deficiency 50, MIM# 619025; Dyskinetic cerebral palsy; Mitochondrial myopathy; Partial agenesis of the corpus callosum
Mitochondrial disease v0.504 MRPS25 Zornitza Stark edited their review of gene: MRPS25: Changed phenotypes: Combined oxidative phosphorylation deficiency 50, MIM# 619025, Dyskinetic cerebral palsy, Mitochondrial myopathy, Partial agenesis of the corpus callosum
Mendeliome v0.4623 MIEF2 Zornitza Stark edited their review of gene: MIEF2: Changed phenotypes: Combined oxidative phosphorylation deficiency 49, MIM# 619024, Progressive muscle weakness, Exercise intolerance, Ragged red and COX negative fibres, Complex I and IV deficiency
Mitochondrial disease v0.504 MIEF2 Zornitza Stark edited their review of gene: MIEF2: Changed phenotypes: Combined oxidative phosphorylation deficiency 49, MIM# 619024, Progressive muscle weakness, Exercise intolerance, Ragged red and COX negative fibres, Complex I and IV deficiency
Mendeliome v0.4623 PRIMPOL Sebastian Lunke reviewed gene: PRIMPOL: Rating: RED; Mode of pathogenicity: None; Publications: 23579484, 32375772, 25262353, 27230014, 25680975, 31560770; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.443 COL9A2 Zornitza Stark Marked gene: COL9A2 as ready
Deafness_IsolatedAndComplex v0.443 COL9A2 Zornitza Stark Gene: col9a2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.443 COL9A2 Zornitza Stark Phenotypes for gene: COL9A2 were changed from to Stickler syndrome, type V, MIM# 614284
Deafness_IsolatedAndComplex v0.442 COL9A2 Zornitza Stark Publications for gene: COL9A2 were set to
Deafness_IsolatedAndComplex v0.441 COL9A2 Zornitza Stark Mode of inheritance for gene: COL9A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.440 COL9A2 Zornitza Stark reviewed gene: COL9A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31090205, 21671392, 20686772, 27666725, 15802199, 15710493; Phenotypes: Stickler syndrome, type V, MIM# 614284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.135 COL4A5 Zornitza Stark Marked gene: COL4A5 as ready
Proteinuria v0.135 COL4A5 Zornitza Stark Gene: col4a5 has been classified as Green List (High Evidence).
Proteinuria v0.135 COL4A5 Zornitza Stark Phenotypes for gene: COL4A5 were changed from to Alport syndrome 1, X-linked, MIM# 301050
Proteinuria v0.134 COL4A5 Zornitza Stark Mode of inheritance for gene: COL4A5 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 v0.133 COL4A5 Zornitza Stark reviewed gene: COL4A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alport syndrome 1, X-linked, MIM# 301050; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Haematuria_Alport v0.37 COL4A5 Zornitza Stark Marked gene: COL4A5 as ready
Haematuria_Alport v0.37 COL4A5 Zornitza Stark Gene: col4a5 has been classified as Green List (High Evidence).
Haematuria_Alport v0.37 COL4A5 Zornitza Stark Phenotypes for gene: COL4A5 were changed from to Alport syndrome 1, X-linked, MIM# 301050
Haematuria_Alport v0.36 COL4A5 Zornitza Stark Mode of inheritance for gene: COL4A5 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)
Haematuria_Alport v0.35 COL4A5 Zornitza Stark reviewed gene: COL4A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alport syndrome 1, X-linked, MIM# 301050; 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 v0.4623 COL4A5 Zornitza Stark Marked gene: COL4A5 as ready
Mendeliome v0.4623 COL4A5 Zornitza Stark Gene: col4a5 has been classified as Green List (High Evidence).
Mendeliome v0.4623 COL4A5 Zornitza Stark Phenotypes for gene: COL4A5 were changed from to Alport syndrome 1, X-linked, MIM# 301050
Mendeliome v0.4622 COL4A5 Zornitza Stark Mode of inheritance for gene: COL4A5 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 v0.4621 COL4A5 Zornitza Stark reviewed gene: COL4A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alport syndrome 1, X-linked, MIM# 301050; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Deafness_IsolatedAndComplex v0.440 COL4A5 Zornitza Stark Marked gene: COL4A5 as ready
Deafness_IsolatedAndComplex v0.440 COL4A5 Zornitza Stark Gene: col4a5 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.440 COL4A5 Zornitza Stark Phenotypes for gene: COL4A5 were changed from to Alport syndrome 1, X-linked, MIM# 301050
Deafness_IsolatedAndComplex v0.439 COL4A5 Zornitza Stark Mode of inheritance for gene: COL4A5 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)
Deafness_IsolatedAndComplex v0.438 COL4A5 Zornitza Stark reviewed gene: COL4A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alport syndrome 1, X-linked, MIM# 301050; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Deafness_IsolatedAndComplex v0.438 COL11A2 Zornitza Stark Marked gene: COL11A2 as ready
Deafness_IsolatedAndComplex v0.438 COL11A2 Zornitza Stark Gene: col11a2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.438 COL11A2 Zornitza Stark Phenotypes for gene: COL11A2 were changed from to Deafness, autosomal dominant 13, MIM# 601868; Deafness, autosomal recessive 53, MIM# 609706; Otospondylomegaepiphyseal dysplasia, autosomal dominant, MIM# 184840; Otospondylomegaepiphyseal dysplasia, autosomal recessive, MIM# 215150
Deafness_IsolatedAndComplex v0.437 COL11A2 Zornitza Stark Publications for gene: COL11A2 were set to 10581026; 25633957; 16033917
Deafness_IsolatedAndComplex v0.437 COL11A2 Zornitza Stark Publications for gene: COL11A2 were set to
Deafness_IsolatedAndComplex v0.436 COL11A2 Zornitza Stark Mode of inheritance for gene: COL11A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.435 COL11A2 Zornitza Stark reviewed gene: COL11A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10581026, 25633957, 16033917; Phenotypes: Deafness, autosomal dominant 13, MIM# 601868, Deafness, autosomal recessive 53, MIM# 609706, Otospondylomegaepiphyseal dysplasia, autosomal dominant, MIM# 184840, Otospondylomegaepiphyseal dysplasia, autosomal recessive, MIM# 215150; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.435 COL11A1 Zornitza Stark Marked gene: COL11A1 as ready
Deafness_IsolatedAndComplex v0.435 COL11A1 Zornitza Stark Gene: col11a1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.435 COL11A1 Zornitza Stark Phenotypes for gene: COL11A1 were changed from to Stickler syndrome, type II, MIM# 604841; Marshall syndrome, MIM# 154780
Deafness_IsolatedAndComplex v0.434 COL11A1 Zornitza Stark Mode of inheritance for gene: COL11A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.433 COL11A1 Zornitza Stark reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type II, MIM# 604841, Marshall syndrome, MIM# 154780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.433 COCH Zornitza Stark Marked gene: COCH as ready
Deafness_IsolatedAndComplex v0.433 COCH Zornitza Stark Gene: coch has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.433 COCH Zornitza Stark edited their review of gene: COCH: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.4621 COCH Zornitza Stark Marked gene: COCH as ready
Mendeliome v0.4621 COCH Zornitza Stark Gene: coch has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.433 COCH Zornitza Stark Mode of inheritance for gene: COCH was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.4621 COCH Zornitza Stark Phenotypes for gene: COCH were changed from to Deafness, autosomal dominant 9, MIM# 601369
Mendeliome v0.4620 COCH Zornitza Stark Publications for gene: COCH were set to
Mendeliome v0.4619 COCH Zornitza Stark Mode of inheritance for gene: COCH was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.4618 COCH Zornitza Stark reviewed gene: COCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 16151338, 28116169, 28099493, 9806553, 17561763, 21046548, 26256111, 22931125, 22610276, 18312449, 28733840, 18697796, 29449721; Phenotypes: Deafness, autosomal dominant 9, MIM# 601369; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.432 COCH Zornitza Stark Phenotypes for gene: COCH were changed from to Deafness, autosomal dominant 9, MIM# 601369
Deafness_IsolatedAndComplex v0.431 COCH Zornitza Stark Publications for gene: COCH were set to
Deafness_IsolatedAndComplex v0.430 COCH Zornitza Stark Mode of inheritance for gene: COCH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.429 COCH Zornitza Stark reviewed gene: COCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 16151338, 28116169, 28099493, 9806553, 17561763, 21046548, 26256111, 22931125, 22610276, 18312449, 28733840, 18697796, 29449721; Phenotypes: Deafness, autosomal dominant 9, MIM# 601369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Usher Syndrome v0.12 CLRN1 Zornitza Stark Marked gene: CLRN1 as ready
Usher Syndrome v0.12 CLRN1 Zornitza Stark Gene: clrn1 has been classified as Green List (High Evidence).
Usher Syndrome v0.12 CLRN1 Zornitza Stark Phenotypes for gene: CLRN1 were changed from ?Usher syndrome, type 3A, 276902Retinitis pigmentosa 61, 614180 to Usher syndrome, type 3A, 276902; Retinitis pigmentosa 61, 614180
Usher Syndrome v0.11 CLRN1 Zornitza Stark Publications for gene: CLRN1 were set to
Usher Syndrome v0.10 CLRN1 Zornitza Stark reviewed gene: CLRN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11524702, 24596593, 22135276, 21675857, 19753315, 27110679, 26943149, 22787034; Phenotypes: Usher syndrome, type 3A, MIM# 276902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4618 CLRN1 Zornitza Stark Marked gene: CLRN1 as ready
Mendeliome v0.4618 CLRN1 Zornitza Stark Gene: clrn1 has been classified as Green List (High Evidence).
Mendeliome v0.4618 CLRN1 Zornitza Stark Phenotypes for gene: CLRN1 were changed from to Usher syndrome, type 3A, MIM# 276902
Mendeliome v0.4617 CLRN1 Zornitza Stark Publications for gene: CLRN1 were set to
Mendeliome v0.4616 CLRN1 Zornitza Stark Mode of inheritance for gene: CLRN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4615 CLRN1 Zornitza Stark reviewed gene: CLRN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11524702, 24596593, 22135276, 21675857, 19753315, 27110679, 26943149, 22787034; Phenotypes: Usher syndrome, type 3A, MIM# 276902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.429 CLRN1 Zornitza Stark Marked gene: CLRN1 as ready
Deafness_IsolatedAndComplex v0.429 CLRN1 Zornitza Stark Gene: clrn1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.429 CLRN1 Zornitza Stark Phenotypes for gene: CLRN1 were changed from to Usher syndrome, type 3A, MIM# 276902
Deafness_IsolatedAndComplex v0.428 CLRN1 Zornitza Stark Publications for gene: CLRN1 were set to 11524702; 24596593; 22135276; 21675857; 19753315; 27110679; 26943149; 22787034
Deafness_IsolatedAndComplex v0.428 CLRN1 Zornitza Stark Publications for gene: CLRN1 were set to
Deafness_IsolatedAndComplex v0.427 CLRN1 Zornitza Stark Mode of inheritance for gene: CLRN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.426 CLRN1 Zornitza Stark reviewed gene: CLRN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11524702, 24596593, 22135276, 21675857, 19753315, 27110679, 26943149, 22787034; Phenotypes: Usher syndrome, type 3A, MIM# 276902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.86 CLPP Zornitza Stark Marked gene: CLPP as ready
Additional findings_Paediatric v0.86 CLPP Zornitza Stark Gene: clpp has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.86 CLPP Zornitza Stark Phenotypes for gene: CLPP were changed from Perrault syndrome to Perrault syndrome 3, MIM# 614129
Additional findings_Paediatric v0.85 CLPP Zornitza Stark Publications for gene: CLPP were set to
Additional findings_Paediatric v0.84 CLPP Zornitza Stark Classified gene: CLPP as Green List (high evidence)
Additional findings_Paediatric v0.84 CLPP Zornitza Stark Gene: clpp has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.83 CLPP Zornitza Stark reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23541340, 27087618, 27899912, 25254289; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.426 CLPP Zornitza Stark Publications for gene: CLPP were set to 23541340; 27087618; 27899912; 25254289
Deafness_IsolatedAndComplex v0.425 CLPP Zornitza Stark edited their review of gene: CLPP: Changed publications: 23541340, 27087618, 27899912, 25254289, 23851121
Deafness_IsolatedAndComplex v0.425 CLPP Zornitza Stark changed review comment from: Perrault syndrome (PRLTS) is an autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and premature ovarian failure (POF) secondary to ovarian dysgenesis. Affected males have SNHL but show normal pubertal development. A spectrum of additional clinical features, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some affected individuals. More than 5 unrelated families reported.; to: Perrault syndrome (PRLTS) is an autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and premature ovarian failure (POF) secondary to ovarian dysgenesis. Affected males have SNHL but show normal pubertal development. A spectrum of additional clinical features, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some affected individuals. More than 5 unrelated families (11 probands) reported, mouse model.
Mendeliome v0.4615 CLPP Zornitza Stark Marked gene: CLPP as ready
Mendeliome v0.4615 CLPP Zornitza Stark Gene: clpp has been classified as Green List (High Evidence).
Mendeliome v0.4615 CLPP Zornitza Stark Phenotypes for gene: CLPP were changed from to Perrault syndrome 3, MIM# 614129
Mendeliome v0.4614 CLPP Zornitza Stark Publications for gene: CLPP were set to
Mendeliome v0.4613 CLPP Zornitza Stark Mode of inheritance for gene: CLPP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4612 CLPP Zornitza Stark reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23541340, 27087618, 27899912, 25254289; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.425 CLPP Zornitza Stark Marked gene: CLPP as ready
Deafness_IsolatedAndComplex v0.425 CLPP Zornitza Stark Gene: clpp has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.425 CLPP Zornitza Stark Phenotypes for gene: CLPP were changed from to Perrault syndrome 3, MIM# 614129
Deafness_IsolatedAndComplex v0.424 CLPP Zornitza Stark Publications for gene: CLPP were set to
Deafness_IsolatedAndComplex v0.423 CLPP Zornitza Stark Mode of inheritance for gene: CLPP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.422 CLPP Zornitza Stark reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23541340, 27087618, 27899912, 25254289; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.422 CIB2 Zornitza Stark Marked gene: CIB2 as ready
Deafness_IsolatedAndComplex v0.422 CIB2 Zornitza Stark Gene: cib2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.422 CIB2 Zornitza Stark Phenotypes for gene: CIB2 were changed from to Deafness, autosomal recessive 48, MIM# 609439
Additional findings_Paediatric v0.83 CIB2 Zornitza Stark Marked gene: CIB2 as ready
Additional findings_Paediatric v0.83 CIB2 Zornitza Stark Gene: cib2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.83 CIB2 Zornitza Stark Classified gene: CIB2 as Green List (high evidence)
Additional findings_Paediatric v0.83 CIB2 Zornitza Stark Gene: cib2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.82 CIB2 Zornitza Stark gene: CIB2 was added
gene: CIB2 was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIB2 were set to 23023331; 23023331; 26173970; 26473954; 27344577; 26226137; 26445815
Phenotypes for gene: CIB2 were set to Deafness, autosomal recessive 48, MIM# 609439
Review for gene: CIB2 was set to GREEN
Added comment: DEFINITIVE association with isolated deafness, REFUTED association with Usher syndrome by ClinGen. Multiple families, mouse and zebrafish animal models, all families but one with isolated deafness.
Sources: Expert list
Mendeliome v0.4612 CLDN14 Zornitza Stark Marked gene: CLDN14 as ready
Mendeliome v0.4612 CLDN14 Zornitza Stark Gene: cldn14 has been classified as Green List (High Evidence).
Mendeliome v0.4612 CLDN14 Zornitza Stark Phenotypes for gene: CLDN14 were changed from to Deafness, autosomal recessive 29, MIM# 614035
Mendeliome v0.4611 CLDN14 Zornitza Stark Publications for gene: CLDN14 were set to
Mendeliome v0.4610 CLDN14 Zornitza Stark Mode of inheritance for gene: CLDN14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4609 CLDN14 Zornitza Stark reviewed gene: CLDN14: Rating: GREEN; Mode of pathogenicity: None; Publications: 11163249, 20811388, 22246673, 23235333, 27870113, 27838790, 12913076; Phenotypes: Deafness, autosomal recessive 29, MIM# 614035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.421 CLDN14 Zornitza Stark Marked gene: CLDN14 as ready
Deafness_IsolatedAndComplex v0.421 CLDN14 Zornitza Stark Gene: cldn14 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.421 CLDN14 Zornitza Stark Phenotypes for gene: CLDN14 were changed from to Deafness, autosomal recessive 29, MIM# 614035
Deafness_IsolatedAndComplex v0.420 CLDN14 Zornitza Stark Publications for gene: CLDN14 were set to
Deafness_IsolatedAndComplex v0.419 CLDN14 Zornitza Stark Mode of inheritance for gene: CLDN14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.418 CLDN14 Zornitza Stark reviewed gene: CLDN14: Rating: GREEN; Mode of pathogenicity: None; Publications: 11163249, 20811388, 22246673, 23235333, 27870113, 27838790, 12913076; Phenotypes: Deafness, autosomal recessive 29, MIM# 614035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4609 CIB2 Zornitza Stark Marked gene: CIB2 as ready
Mendeliome v0.4609 CIB2 Zornitza Stark Gene: cib2 has been classified as Green List (High Evidence).
Mendeliome v0.4609 CIB2 Zornitza Stark Phenotypes for gene: CIB2 were changed from to Deafness, autosomal recessive 48, MIM# 609439
Mendeliome v0.4608 CIB2 Zornitza Stark Publications for gene: CIB2 were set to
Mendeliome v0.4607 CIB2 Zornitza Stark Mode of inheritance for gene: CIB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4606 CIB2 Zornitza Stark reviewed gene: CIB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23023331, 23023331, 26173970, 26473954, 27344577, 26226137, 26445815; Phenotypes: Deafness, autosomal recessive 48, MIM# 609439; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.23 CIB2 Zornitza Stark reviewed gene: CIB2: Rating: RED; Mode of pathogenicity: None; Publications: 23023331, 23023331, 26173970, 26473954, 27344577, 26226137, 26445815; Phenotypes: Usher syndrome, type IJ 614869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Usher Syndrome v0.10 CIB2 Zornitza Stark Marked gene: CIB2 as ready
Usher Syndrome v0.10 CIB2 Zornitza Stark Gene: cib2 has been classified as Red List (Low Evidence).
Usher Syndrome v0.10 CIB2 Zornitza Stark Publications for gene: CIB2 were set to
Usher Syndrome v0.9 CIB2 Zornitza Stark Classified gene: CIB2 as Red List (low evidence)
Usher Syndrome v0.9 CIB2 Zornitza Stark Gene: cib2 has been classified as Red List (Low Evidence).
Usher Syndrome v0.8 CIB2 Zornitza Stark Tag refuted tag was added to gene: CIB2.
Usher Syndrome v0.8 CIB2 Zornitza Stark reviewed gene: CIB2: Rating: RED; Mode of pathogenicity: None; Publications: 23023331, 23023331, 26173970, 26473954, 27344577, 26226137, 26445815; Phenotypes: Usher syndrome, type IJ 614869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.418 CIB2 Zornitza Stark Publications for gene: CIB2 were set to
Deafness_IsolatedAndComplex v0.417 CIB2 Zornitza Stark Mode of inheritance for gene: CIB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.416 CIB2 Zornitza Stark reviewed gene: CIB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23023331, 23023331, 26173970, 26473954, 27344577, 26226137, 26445815; Phenotypes: Deafness, autosomal recessive 48, MIM# 609439; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.416 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Deafness_IsolatedAndComplex v0.416 CHD7 Zornitza Stark Gene: chd7 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.416 CHD7 Zornitza Stark Phenotypes for gene: CHD7 were changed from to CHARGE syndrome, MIM# 214800
Deafness_IsolatedAndComplex v0.415 CHD7 Zornitza Stark Mode of inheritance for gene: CHD7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.414 CHD7 Zornitza Stark reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CHARGE syndrome, MIM# 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.414 BSND Zornitza Stark Marked gene: BSND as ready
Deafness_IsolatedAndComplex v0.414 BSND Zornitza Stark Gene: bsnd has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.414 BSND Zornitza Stark Phenotypes for gene: BSND were changed from to Sensorineural deafness with mild renal dysfunction, MIM# 602522; Bartter syndrome, type 4a, MIM# 602522
Deafness_IsolatedAndComplex v0.413 BSND Zornitza Stark Publications for gene: BSND were set to
Deafness_IsolatedAndComplex v0.412 BSND Zornitza Stark Mode of inheritance for gene: BSND was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.411 BSND Zornitza Stark reviewed gene: BSND: Rating: GREEN; Mode of pathogenicity: None; Publications: 19646679; Phenotypes: Sensorineural deafness with mild renal dysfunction, MIM# 602522, Bartter syndrome, type 4a, MIM# 602522; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.411 BCS1L Zornitza Stark Marked gene: BCS1L as ready
Deafness_IsolatedAndComplex v0.411 BCS1L Zornitza Stark Gene: bcs1l has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.411 BCS1L Zornitza Stark Phenotypes for gene: BCS1L were changed from to Bjornstad syndrome, MIM# 262000; Leigh syndrome, MIM# 256000; BCS1L-related mitochondrial disease
Deafness_IsolatedAndComplex v0.410 BCS1L Zornitza Stark Publications for gene: BCS1L were set to
Deafness_IsolatedAndComplex v0.409 BCS1L Zornitza Stark Mode of inheritance for gene: BCS1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.408 BCS1L Zornitza Stark reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 26563427, 24172246, 17314340; Phenotypes: Bjornstad syndrome, MIM# 262000, Leigh syndrome, MIM# 256000, BCS1L-related mitochondrial disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypercalcaemia v0.13 GCM2 Zornitza Stark Mode of pathogenicity for gene: GCM2 was changed from None to Other
Hypercalcaemia v0.12 CDKN1B Alison Yeung Marked gene: CDKN1B as ready
Hypercalcaemia v0.12 CDKN1B Alison Yeung Gene: cdkn1b has been classified as Green List (High Evidence).
Hypercalcaemia v0.12 CDKN1B Alison Yeung Classified gene: CDKN1B as Green List (high evidence)
Hypercalcaemia v0.12 CDKN1B Alison Yeung Gene: cdkn1b has been classified as Green List (High Evidence).
Hypercalcaemia v0.12 CDKN1B Alison Yeung Classified gene: CDKN1B as Green List (high evidence)
Hypercalcaemia v0.12 CDKN1B Alison Yeung Gene: cdkn1b has been classified as Green List (High Evidence).
Hypercalcaemia v0.11 CDKN1B Alison Yeung gene: CDKN1B was added
gene: CDKN1B was added to Hypercalcaemia. Sources: Literature
Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDKN1B were set to 24819502; 17030811; 23555276
Phenotypes for gene: CDKN1B were set to Multiple endocrine neoplasia type 4, MEN4, OMIM #610755
Review for gene: CDKN1B was set to GREEN
gene: CDKN1B was marked as current diagnostic
Added comment: More than 3 unrelated individuals reported.
Sources: Literature
Mendeliome v0.4606 GCM2 Zornitza Stark Marked gene: GCM2 as ready
Mendeliome v0.4606 GCM2 Zornitza Stark Gene: gcm2 has been classified as Green List (High Evidence).
Mendeliome v0.4606 GCM2 Zornitza Stark Phenotypes for gene: GCM2 were changed from to Hyperparathyroidism 4, OMIM #617343
Mendeliome v0.4605 GCM2 Zornitza Stark Publications for gene: GCM2 were set to
Mendeliome v0.4604 GCM2 Zornitza Stark Mode of pathogenicity for gene: GCM2 was changed from to Other
Mendeliome v0.4603 GCM2 Zornitza Stark Mode of inheritance for gene: GCM2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4602 GCM2 Zornitza Stark edited their review of gene: GCM2: Changed mode of pathogenicity: Other
Mendeliome v0.4602 GCM2 Zornitza Stark reviewed gene: GCM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27745835; Phenotypes: Hyperparathyroidism 4, OMIM #617343; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.81 F13A1 Zornitza Stark Marked gene: F13A1 as ready
Additional findings_Paediatric v0.81 F13A1 Zornitza Stark Gene: f13a1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.81 F13A1 Zornitza Stark Classified gene: F13A1 as Green List (high evidence)
Additional findings_Paediatric v0.81 F13A1 Zornitza Stark Gene: f13a1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.80 F13A1 Zornitza Stark gene: F13A1 was added
gene: F13A1 was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: F13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F13A1 were set to Factor XIIIA deficiency, MIM# 613225
Review for gene: F13A1 was set to GREEN
Added comment: Congenital disorder, treatable.
Sources: Expert list
Hypercalcaemia v0.10 GCM2 Alison Yeung Marked gene: GCM2 as ready
Hypercalcaemia v0.10 GCM2 Alison Yeung Gene: gcm2 has been classified as Green List (High Evidence).
Hypercalcaemia v0.10 GCM2 Alison Yeung Classified gene: GCM2 as Green List (high evidence)
Hypercalcaemia v0.10 GCM2 Alison Yeung Gene: gcm2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.79 F10 Zornitza Stark Marked gene: F10 as ready
Additional findings_Paediatric v0.79 F10 Zornitza Stark Gene: f10 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.79 F10 Zornitza Stark Classified gene: F10 as Green List (high evidence)
Additional findings_Paediatric v0.79 F10 Zornitza Stark Gene: f10 has been classified as Green List (High Evidence).
Hypercalcaemia v0.9 GCM2 Alison Yeung gene: GCM2 was added
gene: GCM2 was added to Hypercalcaemia. Sources: Literature
Mode of inheritance for gene: GCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GCM2 were set to 27745835
Phenotypes for gene: GCM2 were set to Hyperparathyroidism 4, OMIM #617343
Penetrance for gene: GCM2 were set to unknown
Review for gene: GCM2 was set to GREEN
Added comment: 7 unrelated kindreds with causative variants identified. Functional studies demonstrated gain-of-function/activating mutations
Sources: Literature
Additional findings_Paediatric v0.78 F10 Zornitza Stark gene: F10 was added
gene: F10 was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: F10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F10 were set to Factor X deficiency, MIM# 227600
Review for gene: F10 was set to GREEN
Added comment: Established gene-disease association, congenital disorder which is treatable.
Sources: Expert list
Additional findings_Paediatric v0.77 DUOXA2 Zornitza Stark Marked gene: DUOXA2 as ready
Additional findings_Paediatric v0.77 DUOXA2 Zornitza Stark Gene: duoxa2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.77 DUOXA2 Zornitza Stark Phenotypes for gene: DUOXA2 were changed from Thyroid dyshormonogenesis to Thyroid dyshormonogenesis 5, MIM# 274900
Additional findings_Paediatric v0.76 DUOXA2 Zornitza Stark Classified gene: DUOXA2 as Green List (high evidence)
Additional findings_Paediatric v0.76 DUOXA2 Zornitza Stark Gene: duoxa2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.75 DUOXA2 Zornitza Stark changed review comment from: Evidence for gene-disease association assessed as moderate.; to: Evidence for gene-disease association assessed as moderate. However, treatment available.
Additional findings_Paediatric v0.75 DUOXA2 Zornitza Stark edited their review of gene: DUOXA2: Changed rating: GREEN
Hyperthyroidism v0.14 THRA Zornitza Stark Marked gene: THRA as ready
Hyperthyroidism v0.14 THRA Zornitza Stark Added comment: Comment when marking as ready: Included in this panel as TFTs potentially suggestive of hyperthyroidism – elevated T3, non-suppressed TSH, even though the associated condition is hypothyroidism.
Hyperthyroidism v0.14 THRA Zornitza Stark Gene: thra has been classified as Green List (High Evidence).
Hyperthyroidism v0.14 SLC16A2 Zornitza Stark Marked gene: SLC16A2 as ready
Hyperthyroidism v0.14 SLC16A2 Zornitza Stark Gene: slc16a2 has been classified as Green List (High Evidence).
Hyperthyroidism v0.14 SLC16A2 Zornitza Stark Phenotypes for gene: SLC16A2 were changed from MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA; mental retardation, X-linked, with hypotonia; Allan-Herndon-Dudley syndrome; ALLAN-HERNDON SYNDROME; T3 RESISTANCE; AHDS; ALLAN-HERNDON-DUDLEY SYNDROME; MENTAL RETARDATION AND MUSCULAR ATROPHY; Monocarboxylate transporter 8 (MCT8) defect; MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency; TRIIODOTHYRONINE RESISTANCE; Allan-Herndon-Dudley syndrome, 300523; monocarboxylate transporter 8 (MCT8) deficiency; Allan-Herndon-Dudley Syndrome; 300523; MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY; Allan_Herndon_Dudley Syndrome to Allan-Herndon-Dudley syndrome, MIM# 300523
Hyperthyroidism v0.13 SLC16A2 Zornitza Stark Publications for gene: SLC16A2 were set to 24847459
Hyperthyroidism v0.12 THRA Zornitza Stark Marked gene: THRA as ready
Hyperthyroidism v0.12 THRA Zornitza Stark Gene: thra has been classified as Green List (High Evidence).
Hyperthyroidism v0.12 THRA Zornitza Stark Phenotypes for gene: THRA were changed from Resistance to Thyroid Hormone due to defective thyroid receptor alpha (RTHa); Hypothyroidism, congenital, nongoitrous, 6, 614450; congenital nongoitrous hypothyroidism 6; RTH alpha; HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; Resistance to thyroid hormone alpha; CHNG6 to Hypothyroidism, congenital, nongoitrous, 6 614450
Hyperthyroidism v0.11 THRA Zornitza Stark Mode of pathogenicity for gene: THRA was changed from to Other
Mendeliome v0.4602 SECISBP2 Zornitza Stark Marked gene: SECISBP2 as ready
Mendeliome v0.4602 SECISBP2 Zornitza Stark Gene: secisbp2 has been classified as Green List (High Evidence).
Mendeliome v0.4602 SECISBP2 Zornitza Stark Phenotypes for gene: SECISBP2 were changed from to Thyroid hormone metabolism, abnormal, MIM# 609698
Mendeliome v0.4601 SECISBP2 Zornitza Stark Publications for gene: SECISBP2 were set to
Mendeliome v0.4600 SECISBP2 Zornitza Stark Mode of inheritance for gene: SECISBP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4599 SECISBP2 Zornitza Stark reviewed gene: SECISBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16228000, 19602558, 21084748, 22247018; Phenotypes: Thyroid hormone metabolism, abnormal, MIM# 609698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperthyroidism v0.10 SECISBP2 Zornitza Stark Marked gene: SECISBP2 as ready
Hyperthyroidism v0.10 SECISBP2 Zornitza Stark Gene: secisbp2 has been classified as Green List (High Evidence).
Hyperthyroidism v0.10 SECISBP2 Zornitza Stark Phenotypes for gene: SECISBP2 were changed from Selenocysteine insertion sequence binding protein 2 (SBP2) defect; Thyroid hormone metabolism, abnormal, 609698; Short stature-delayed bone age due to thyroid hormone metabolism deficiency; THYROID HORMONE METABOLISM, ABNORMAL; Abnormal thyroid hormone metabolism to Thyroid hormone metabolism, abnormal, MIM# 609698
Hyperthyroidism v0.9 SECISBP2 Zornitza Stark Publications for gene: SECISBP2 were set to 22986150; 24629861; 19602558; 22247018; 20501692; 16228000; Diversity Selenium Functions in Health and Disease, Edited by Regina Brigelius-Flohe and Helmut Sies, Chapter 16. Mutations in SECISBP2. Erik Schoenmakers, Carla Moran, Nadia Schoenmakers and Krishna Chatterjee. CRC Press 2015. Pages 343 376. Print ISBN: 978-1-4822-5126-5. eBook ISBN: 978-1-4822-5127-2. DOI: 10.1201/b18810-23; 21084748
Intellectual disability syndromic and non-syndromic v0.3027 SECISBP2 Zornitza Stark Marked gene: SECISBP2 as ready
Intellectual disability syndromic and non-syndromic v0.3027 SECISBP2 Zornitza Stark Gene: secisbp2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3027 SECISBP2 Zornitza Stark Classified gene: SECISBP2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.3027 SECISBP2 Zornitza Stark Gene: secisbp2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3026 SECISBP2 Anna Le Fevre gene: SECISBP2 was added
gene: SECISBP2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SECISBP2 were set to 16228000; 19602558; 21084748; 22247018
Phenotypes for gene: SECISBP2 were set to #609698 THYROID HORMONE METABOLISM, ABNORMAL
Penetrance for gene: SECISBP2 were set to unknown
Review for gene: SECISBP2 was set to RED
Added comment: Multiple families with biallelic loss of function variants have been reported with a disorder of thyroid hormone metabolism involving synthesis of selenoproteins. Features include short stature with delayed bone age, muscle weakness with fatty infiltration of skeletal muscle, azoospermia, and mild developmental delay. Photosensitivity and high frequency SNHL have been reported. Thyroid function tests show elevated FT4 and rT3, low FT3 and normal or mildly elevated TSH. Incomplete loss of SECISBP2 function has been hypothesized to cause a milder phenotype.

At least two reports of children with delayed milestones.
One report of an affected adult with mild ID.
Further reports may clarify if this phenotype typically includes ID.
Sources: Literature
Hyperthyroidism v0.8 SECISBP2 Anna Le Fevre reviewed gene: SECISBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16228000, 19602558, 21084748, 22247018; Phenotypes: #609698 THYROID HORMONE METABOLISM, ABNORMAL; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.111 SBMA Zornitza Stark Marked STR: SBMA as ready
Motor Neurone Disease v0.111 SBMA Zornitza Stark Str: sbma has been classified as Green List (High Evidence).
Motor Neurone Disease v0.110 DNAJB2 Zornitza Stark Marked gene: DNAJB2 as ready
Motor Neurone Disease v0.110 DNAJB2 Zornitza Stark Gene: dnajb2 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.110 DNAJB2 Zornitza Stark Phenotypes for gene: DNAJB2 were changed from to Spinal muscular atrophy, distal, autosomal recessive, 5, 614881
Motor Neurone Disease v0.109 DNAJB2 Zornitza Stark Mode of inheritance for gene: DNAJB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.75 IYD Zornitza Stark Marked gene: IYD as ready
Additional findings_Paediatric v0.75 IYD Zornitza Stark Added comment: Comment when marking as ready: More than 4 families reported, treatable disorder.
Additional findings_Paediatric v0.75 IYD Zornitza Stark Gene: iyd has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.75 IYD Zornitza Stark Phenotypes for gene: IYD were changed from Thyroid dyshormonogenesis to Thyroid dyshormonogenesis 4, MIM# 274800
Additional findings_Paediatric v0.74 IYD Zornitza Stark Publications for gene: IYD were set to
Additional findings_Paediatric v0.73 IYD Zornitza Stark Classified gene: IYD as Green List (high evidence)
Additional findings_Paediatric v0.73 IYD Zornitza Stark Gene: iyd has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.72 IRF6 Zornitza Stark Marked gene: IRF6 as ready
Additional findings_Paediatric v0.72 IRF6 Zornitza Stark Gene: irf6 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.72 IRF6 Zornitza Stark Phenotypes for gene: IRF6 were changed from van der Woude syndrome; Popliteal pterygium syndrome to van der Woude syndrome MIM# 119300
Additional findings_Paediatric v0.71 IRF6 Zornitza Stark Classified gene: IRF6 as Green List (high evidence)
Additional findings_Paediatric v0.71 IRF6 Zornitza Stark Gene: irf6 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.70 INS Zornitza Stark Marked gene: INS as ready
Additional findings_Paediatric v0.70 INS Zornitza Stark Gene: ins has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.70 INS Zornitza Stark Classified gene: INS as Green List (high evidence)
Additional findings_Paediatric v0.70 INS Zornitza Stark Gene: ins has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.55 CAPN3 Zornitza Stark Publications for gene: CAPN3 were set to 31937337; 28881388
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.54 CAPN3 Zornitza Stark Mode of inheritance for gene: CAPN3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Motor Neurone Disease v0.107 IGHMBP2 Zornitza Stark Classified gene: IGHMBP2 as Red List (low evidence)
Motor Neurone Disease v0.107 IGHMBP2 Zornitza Stark Gene: ighmbp2 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.106 IGHMBP2 Zornitza Stark changed review comment from: SMA-like disorder with prominent diaphragmatic involvement but onset is in infancy.; to: SMA-like disorder with prominent diaphragmatic involvement but onset is in infancy. Included in Hereditary Neuropathy_Isolated panel.
Motor Neurone Disease v0.106 IGHMBP2 Zornitza Stark edited their review of gene: IGHMBP2: Changed rating: RED
Motor Neurone Disease v0.106 EXOSC8 Zornitza Stark Marked gene: EXOSC8 as ready
Motor Neurone Disease v0.106 EXOSC8 Zornitza Stark Gene: exosc8 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.106 EXOSC8 Zornitza Stark Phenotypes for gene: EXOSC8 were changed from to Pontocerebellar hypoplasia, type 1C, MIM# 616081
Motor Neurone Disease v0.105 EXOSC8 Zornitza Stark Publications for gene: EXOSC8 were set to
Motor Neurone Disease v0.104 EXOSC8 Zornitza Stark Mode of inheritance for gene: EXOSC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.103 EXOSC8 Zornitza Stark Classified gene: EXOSC8 as Red List (low evidence)
Motor Neurone Disease v0.103 EXOSC8 Zornitza Stark Gene: exosc8 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.102 EXOSC8 Zornitza Stark changed review comment from: This disorder includes a spinal muscular atrophy component in addition to the PCH, but onset is typically in infancy.; to: This disorder includes a spinal muscular atrophy component in addition to the PCH, but onset is typically in infancy. Gene is included in Hereditary Neuropathy_Complex panel.
Motor Neurone Disease v0.102 EXOSC8 Zornitza Stark edited their review of gene: EXOSC8: Changed rating: RED
Motor Neurone Disease v0.102 DYNC1H1 Zornitza Stark Marked gene: DYNC1H1 as ready
Motor Neurone Disease v0.102 DYNC1H1 Zornitza Stark Gene: dync1h1 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.102 DYNC1H1 Zornitza Stark Phenotypes for gene: DYNC1H1 were changed from to Spinal muscular atrophy, lower extremity-predominant 1, AD, MIM# 158600
Motor Neurone Disease v0.101 DYNC1H1 Zornitza Stark Mode of inheritance for gene: DYNC1H1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.100 DYNC1H1 Zornitza Stark Classified gene: DYNC1H1 as Red List (low evidence)
Motor Neurone Disease v0.100 DYNC1H1 Zornitza Stark Gene: dync1h1 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.99 DYNC1H1 Zornitza Stark reviewed gene: DYNC1H1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy, lower extremity-predominant 1, AD, MIM# 158600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.99 BSCL2 Zornitza Stark reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Motor Neurone Disease v0.99 BICD2 Zornitza Stark Marked gene: BICD2 as ready
Motor Neurone Disease v0.99 BICD2 Zornitza Stark Gene: bicd2 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.99 BICD2 Zornitza Stark Phenotypes for gene: BICD2 were changed from to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, 615290; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291
Motor Neurone Disease v0.98 BICD2 Zornitza Stark Mode of inheritance for gene: BICD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.97 BICD2 Zornitza Stark Classified gene: BICD2 as Red List (low evidence)
Motor Neurone Disease v0.97 BICD2 Zornitza Stark Gene: bicd2 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.96 BICD2 Zornitza Stark reviewed gene: BICD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, 615290, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.96 ATP7A Zornitza Stark Marked gene: ATP7A as ready
Motor Neurone Disease v0.96 ATP7A Zornitza Stark Gene: atp7a has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.96 ATP7A Zornitza Stark Phenotypes for gene: ATP7A were changed from to Spinal muscular atrophy, distal, X-linked 3, 300489
Motor Neurone Disease v0.95 ATP7A Zornitza Stark Mode of inheritance for gene: ATP7A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Motor Neurone Disease v0.94 ATP7A Zornitza Stark Classified gene: ATP7A as Red List (low evidence)
Motor Neurone Disease v0.94 ATP7A Zornitza Stark Gene: atp7a has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.93 ATP7A Zornitza Stark reviewed gene: ATP7A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy, distal, X-linked 3, 300489; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Motor Neurone Disease v0.93 ASAH1 Zornitza Stark Marked gene: ASAH1 as ready
Motor Neurone Disease v0.93 ASAH1 Zornitza Stark Gene: asah1 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.93 ASAH1 Zornitza Stark Phenotypes for gene: ASAH1 were changed from to Spinal muscular atrophy with progressive myoclonic epilepsy, 159950
Motor Neurone Disease v0.92 ASAH1 Zornitza Stark Mode of inheritance for gene: ASAH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.91 ASAH1 Zornitza Stark Classified gene: ASAH1 as Red List (low evidence)
Motor Neurone Disease v0.91 ASAH1 Zornitza Stark Gene: asah1 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.90 ASAH1 Zornitza Stark changed review comment from: Early childhood onset, included in Peripheral Neuropathy panels.; to: Early childhood onset, included in Hereditary Neuropathy panels.
Motor Neurone Disease v0.90 ASAH1 Zornitza Stark reviewed gene: ASAH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy with progressive myoclonic epilepsy, 159950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperthyroidism v0.8 SLC16A2 Anna Le Fevre reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25517855, 21098685, 31410843; Phenotypes: #300523 ALLAN-HERNDON-DUDLEY SYNDROME; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Motor Neurone Disease v0.90 VRK1 Zornitza Stark Marked gene: VRK1 as ready
Motor Neurone Disease v0.90 VRK1 Zornitza Stark Gene: vrk1 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.90 VRK1 Zornitza Stark Phenotypes for gene: VRK1 were changed from to Distal hereditary motor neuropathy; dHMN/dSMA
Motor Neurone Disease v0.89 VRK1 Zornitza Stark Publications for gene: VRK1 were set to
Motor Neurone Disease v0.88 VRK1 Zornitza Stark Mode of inheritance for gene: VRK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.87 VRK1 Zornitza Stark Classified gene: VRK1 as Red List (low evidence)
Motor Neurone Disease v0.87 VRK1 Zornitza Stark Gene: vrk1 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.86 VRK1 Zornitza Stark reviewed gene: VRK1: Rating: RED; Mode of pathogenicity: None; Publications: 31560180, 32242460, 31178479, 31837156, 30847374; Phenotypes: Distal hereditary motor neuropathy, dHMN/dSMA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.54 VRK1 Zornitza Stark Marked gene: VRK1 as ready
Hereditary Neuropathy_CMT - isolated v0.54 VRK1 Zornitza Stark Gene: vrk1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.54 VRK1 Zornitza Stark Publications for gene: VRK1 were set to
Hereditary Neuropathy_CMT - isolated v0.53 VRK1 Zornitza Stark reviewed gene: VRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31560180, 32242460, 31178479, 31837156, 30847374; Phenotypes: Spinal muscular atrophy, HMSN; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4599 UBA1 Zornitza Stark Marked gene: UBA1 as ready
Mendeliome v0.4599 UBA1 Zornitza Stark Gene: uba1 has been classified as Green List (High Evidence).
Mendeliome v0.4599 UBA1 Zornitza Stark Phenotypes for gene: UBA1 were changed from to Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830
Mendeliome v0.4598 UBA1 Zornitza Stark Publications for gene: UBA1 were set to
Mendeliome v0.4597 UBA1 Zornitza Stark Mode of inheritance for gene: UBA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.4596 UBA1 Zornitza Stark reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179898, 32181232, 31932168, 29034082, 27699224, 26028276, 23518311; Phenotypes: Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.214 UBA1 Zornitza Stark Marked gene: UBA1 as ready
Arthrogryposis v0.214 UBA1 Zornitza Stark Gene: uba1 has been classified as Green List (High Evidence).
Arthrogryposis v0.214 UBA1 Zornitza Stark Phenotypes for gene: UBA1 were changed from to Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830
Arthrogryposis v0.213 UBA1 Zornitza Stark Publications for gene: UBA1 were set to
Arthrogryposis v0.212 UBA1 Zornitza Stark Mode of inheritance for gene: UBA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.211 UBA1 Zornitza Stark reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179898, 32181232, 31932168, 29034082, 27699224, 26028276, 23518311; Phenotypes: Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Neuropathy_CMT - isolated v0.53 UBA1 Zornitza Stark Phenotypes for gene: UBA1 were changed from dHMN/dSMA; Spinal muscular atrophy, X-linked 2 to dHMN/dSMA; Spinal muscular atrophy, X-linked 2, MIM# 301830
Hereditary Neuropathy_CMT - isolated v0.52 UBA1 Zornitza Stark Publications for gene: UBA1 were set to
Hereditary Neuropathy_CMT - isolated v0.51 UBA1 Zornitza Stark reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179898, 32181232, 31932168, 29034082, 27699224, 26028276, 23518311; Phenotypes: Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Motor Neurone Disease v0.85 UBA1 Zornitza Stark Marked gene: UBA1 as ready
Motor Neurone Disease v0.85 UBA1 Zornitza Stark Gene: uba1 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.85 UBA1 Zornitza Stark Phenotypes for gene: UBA1 were changed from to Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830
Motor Neurone Disease v0.84 UBA1 Zornitza Stark Publications for gene: UBA1 were set to
Motor Neurone Disease v0.83 UBA1 Zornitza Stark Mode of inheritance for gene: UBA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Motor Neurone Disease v0.82 UBA1 Zornitza Stark Classified gene: UBA1 as Red List (low evidence)
Motor Neurone Disease v0.82 UBA1 Zornitza Stark Gene: uba1 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.81 UBA1 Zornitza Stark reviewed gene: UBA1: Rating: RED; Mode of pathogenicity: None; Publications: 18179898, 32181232, 31932168, 29034082, 27699224, 26028276, 23518311; Phenotypes: Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ataxia - adult onset v0.127 RFC1 Bryony Thompson Classified gene: RFC1 as No list
Ataxia - adult onset v0.127 RFC1 Bryony Thompson Gene: rfc1 has been removed from the panel.
Ataxia - adult onset v0.126 PPP2R2B Bryony Thompson Classified gene: PPP2R2B as No list
Ataxia - adult onset v0.126 PPP2R2B Bryony Thompson Gene: ppp2r2b has been removed from the panel.
Motor Neurone Disease v0.81 TRPV4 Zornitza Stark Marked gene: TRPV4 as ready
Motor Neurone Disease v0.81 TRPV4 Zornitza Stark Gene: trpv4 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.81 TRPV4 Zornitza Stark Phenotypes for gene: TRPV4 were changed from to Spinal muscular atrophy, distal, congenital nonprogressive, 600175
Ataxia - adult onset v0.125 NOP56 Bryony Thompson Classified gene: NOP56 as No list
Ataxia - adult onset v0.125 NOP56 Bryony Thompson Gene: nop56 has been removed from the panel.
Motor Neurone Disease v0.80 TRPV4 Zornitza Stark Mode of inheritance for gene: TRPV4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.79 TRPV4 Zornitza Stark Classified gene: TRPV4 as Red List (low evidence)
Motor Neurone Disease v0.79 TRPV4 Zornitza Stark Gene: trpv4 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.78 TRPV4 Zornitza Stark reviewed gene: TRPV4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ataxia - adult onset v0.124 FMR1 Bryony Thompson Classified gene: FMR1 as No list
Ataxia - adult onset v0.124 FMR1 Bryony Thompson Gene: fmr1 has been removed from the panel.
Ataxia - adult onset v0.123 DAB1 Bryony Thompson Classified gene: DAB1 as No list
Ataxia - adult onset v0.123 DAB1 Bryony Thompson Gene: dab1 has been removed from the panel.
Ataxia - adult onset v0.122 BEAN1 Bryony Thompson Classified gene: BEAN1 as No list
Ataxia - adult onset v0.122 BEAN1 Bryony Thompson Gene: bean1 has been removed from the panel.
Hereditary Neuropathy - complex v0.86 TRIP4 Zornitza Stark Marked gene: TRIP4 as ready
Hereditary Neuropathy - complex v0.86 TRIP4 Zornitza Stark Gene: trip4 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.86 TRIP4 Zornitza Stark Phenotypes for gene: TRIP4 were changed from Spinal muscular atrophy with congenital bone fractures 1 to Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866
Hereditary Neuropathy - complex v0.85 TRIP4 Zornitza Stark Publications for gene: TRIP4 were set to
Ataxia - adult onset v0.121 ATXN8 Bryony Thompson Classified gene: ATXN8 as No list
Ataxia - adult onset v0.121 ATXN8 Bryony Thompson Gene: atxn8 has been removed from the panel.
Hereditary Neuropathy - complex v0.84 TRIP4 Zornitza Stark reviewed gene: TRIP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26924529; Phenotypes: Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - adult onset v0.120 ATXN7 Bryony Thompson Classified gene: ATXN7 as No list
Ataxia - adult onset v0.120 ATXN7 Bryony Thompson Gene: atxn7 has been removed from the panel.
Mendeliome v0.4596 TRIP4 Zornitza Stark Marked gene: TRIP4 as ready
Mendeliome v0.4596 TRIP4 Zornitza Stark Gene: trip4 has been classified as Green List (High Evidence).
Mendeliome v0.4596 TRIP4 Zornitza Stark Phenotypes for gene: TRIP4 were changed from to Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866; Muscular dystrophy, congenital, Davignon-Chauveau type 617066
Mendeliome v0.4595 TRIP4 Zornitza Stark Publications for gene: TRIP4 were set to
Mendeliome v0.4594 TRIP4 Zornitza Stark Mode of inheritance for gene: TRIP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4593 TRIP4 Zornitza Stark reviewed gene: TRIP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26924529, 31794073; Phenotypes: Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866, Muscular dystrophy, congenital, Davignon-Chauveau type 617066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - adult onset v0.119 ATXN3 Bryony Thompson Classified gene: ATXN3 as No list
Ataxia - adult onset v0.119 ATXN3 Bryony Thompson Gene: atxn3 has been removed from the panel.
Ataxia - adult onset v0.118 ATXN10 Bryony Thompson Classified gene: ATXN10 as No list
Ataxia - adult onset v0.118 ATXN10 Bryony Thompson Gene: atxn10 has been removed from the panel.
Motor Neurone Disease v0.78 TRIP4 Zornitza Stark Marked gene: TRIP4 as ready
Motor Neurone Disease v0.78 TRIP4 Zornitza Stark Gene: trip4 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.78 TRIP4 Zornitza Stark Phenotypes for gene: TRIP4 were changed from to Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866
Ataxia - adult onset v0.117 ATXN2 Bryony Thompson Classified gene: ATXN2 as No list
Ataxia - adult onset v0.117 ATXN2 Bryony Thompson Gene: atxn2 has been removed from the panel.
Motor Neurone Disease v0.77 TRIP4 Zornitza Stark Publications for gene: TRIP4 were set to
Ataxia - adult onset v0.116 ATXN1 Bryony Thompson Classified gene: ATXN1 as No list
Ataxia - adult onset v0.116 ATXN1 Bryony Thompson Gene: atxn1 has been removed from the panel.
Motor Neurone Disease v0.76 TRIP4 Zornitza Stark Mode of inheritance for gene: TRIP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.75 TRIP4 Zornitza Stark Classified gene: TRIP4 as Red List (low evidence)
Motor Neurone Disease v0.75 TRIP4 Zornitza Stark Gene: trip4 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.74 TRIP4 Zornitza Stark reviewed gene: TRIP4: Rating: RED; Mode of pathogenicity: None; Publications: 26924529; Phenotypes: Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - adult onset v0.115 ATN1 Bryony Thompson Classified gene: ATN1 as No list
Ataxia - adult onset v0.115 ATN1 Bryony Thompson Gene: atn1 has been removed from the panel.
Ataxia - adult onset v0.114 TBP Bryony Thompson Classified gene: TBP as No list
Ataxia - adult onset v0.114 TBP Bryony Thompson Gene: tbp has been removed from the panel.
Motor Neurone Disease v0.74 SPG11 Zornitza Stark Marked gene: SPG11 as ready
Motor Neurone Disease v0.74 SPG11 Zornitza Stark Gene: spg11 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.74 SPG11 Zornitza Stark Phenotypes for gene: SPG11 were changed from to Amyotrophic lateral sclerosis 5, juvenile, MIM# 602099
Motor Neurone Disease v0.73 SPG11 Zornitza Stark Publications for gene: SPG11 were set to
Motor Neurone Disease v0.72 C9orf72 Bryony Thompson Marked STR: C9orf72 as ready
Motor Neurone Disease v0.72 C9orf72 Bryony Thompson Str: c9orf72 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.72 C9orf72 Bryony Thompson Tag STR tag was added to STR: C9orf72.
Motor Neurone Disease v0.72 C9orf72 Bryony Thompson Classified STR: C9orf72 as Green List (high evidence)
Motor Neurone Disease v0.72 C9orf72 Bryony Thompson Str: c9orf72 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.71 C9orf72 Bryony Thompson STR: C9orf72 was added
STR: C9orf72 was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for STR: C9orf72 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: C9orf72 were set to 25577942
Phenotypes for STR: C9orf72 were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550
Review for STR: C9orf72 was set to GREEN
STR: C9orf72 was marked as clinically relevant
Added comment: NG_031977​.1:g.5321GGGGCC[X]
Repeat expansion affects the protein degradation pathways and may contribute to TDP‐43 accumulation
Normal alleles: ≤25 G4C2 hexanucleotide repeat units generally considered normal
Pathogenic high-penetrance alleles: ≥60 G4C2 hexanucleotide repeat units are considered pathogenic
Note: The minimal size of a G4C2 pathogenic repeat is under debate: some studies consider repeats of >30 G4C2 hexanucleotide repeat units as pathogenic, whereas others use a cutoff of 60 G4C2 hexanucleotide repeat units.
Sources: Expert list
Motor Neurone Disease v0.70 SPG11 Zornitza Stark Mode of inheritance for gene: SPG11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.69 SPG11 Zornitza Stark reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: 20110243; Phenotypes: Amyotrophic lateral sclerosis 5, juvenile, MIM# 602099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.69 PLEKHG5 Zornitza Stark Marked gene: PLEKHG5 as ready
Motor Neurone Disease v0.69 PLEKHG5 Zornitza Stark Gene: plekhg5 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.69 PLEKHG5 Zornitza Stark Phenotypes for gene: PLEKHG5 were changed from to Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067
Motor Neurone Disease v0.68 PLEKHG5 Zornitza Stark Publications for gene: PLEKHG5 were set to
Motor Neurone Disease v0.67 PLEKHG5 Zornitza Stark Mode of inheritance for gene: PLEKHG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.66 PLEKHG5 Zornitza Stark Classified gene: PLEKHG5 as Red List (low evidence)
Motor Neurone Disease v0.66 PLEKHG5 Zornitza Stark Gene: plekhg5 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.65 PLEKHG5 Zornitza Stark reviewed gene: PLEKHG5: Rating: RED; Mode of pathogenicity: None; Publications: 17564964; Phenotypes: Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.65 LAS1L Zornitza Stark Phenotypes for gene: LAS1L were changed from Wilson-Turner syndrome, MIM# 309585 to congenital lethal motor neuron disease
Motor Neurone Disease v0.64 LAS1L Zornitza Stark edited their review of gene: LAS1L: Changed phenotypes: congenital lethal motor neuron disease
Hereditary Neuropathy_CMT - isolated v0.51 LAS1L Zornitza Stark Marked gene: LAS1L as ready
Hereditary Neuropathy_CMT - isolated v0.51 LAS1L Zornitza Stark Gene: las1l has been classified as Red List (Low Evidence).
Hereditary Neuropathy_CMT - isolated v0.51 LAS1L Zornitza Stark gene: LAS1L was added
gene: LAS1L was added to Hereditary Neuropathy_CMT - isolated. Sources: Expert Review
Mode of inheritance for gene: LAS1L was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: LAS1L were set to 24647030
Phenotypes for gene: LAS1L were set to congenital lethal motor neuron disease
Review for gene: LAS1L was set to RED
Added comment: Variants in this gene are generally associated with XL intellectual disability (Wilson-Turner syndrome, MIM# 309585). Single case report of congenital lethal motor neuron disease (SMARD) identified with supportive zebrafish model. Unclear whether this is a distinct phenotype/mechanism at present, await further reports.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3026 LAS1L Zornitza Stark Mode of inheritance for gene: LAS1L was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.3025 LAS1L Zornitza Stark edited their review of gene: LAS1L: Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Motor Neurone Disease v0.64 LAS1L Zornitza Stark Marked gene: LAS1L as ready
Motor Neurone Disease v0.64 LAS1L Zornitza Stark Gene: las1l has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.64 LAS1L Zornitza Stark Phenotypes for gene: LAS1L were changed from to Wilson-Turner syndrome, MIM# 309585
Motor Neurone Disease v0.63 LAS1L Zornitza Stark Publications for gene: LAS1L were set to
Motor Neurone Disease v0.62 LAS1L Zornitza Stark Mode of inheritance for gene: LAS1L was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Motor Neurone Disease v0.61 LAS1L Zornitza Stark Classified gene: LAS1L as Red List (low evidence)
Motor Neurone Disease v0.61 LAS1L Zornitza Stark Gene: las1l has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.60 LAS1L Zornitza Stark reviewed gene: LAS1L: Rating: RED; Mode of pathogenicity: None; Publications: 24647030; Phenotypes: Wilson-Turner syndrome, MIM# 309585; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.53 CAPN3 Kristin Rigbye reviewed gene: CAPN3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32342993; Phenotypes: Autosomal recessive limb-girdle muscular dystrophy 1 (MIM#253600), Autosomal dominant limb-girdle muscular dystrophy 4 (MIM#618129); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Motor Neurone Disease v0.60 IGHMBP2 Zornitza Stark Marked gene: IGHMBP2 as ready
Motor Neurone Disease v0.60 IGHMBP2 Zornitza Stark Gene: ighmbp2 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.60 IGHMBP2 Zornitza Stark Phenotypes for gene: IGHMBP2 were changed from to Neuronopathy, distal hereditary motor, type VI 604320
Motor Neurone Disease v0.59 IGHMBP2 Zornitza Stark Mode of inheritance for gene: IGHMBP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.58 IGHMBP2 Zornitza Stark reviewed gene: IGHMBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuronopathy, distal hereditary motor, type VI 604320; Mode of inheritance: None
Hereditary Neuropathy - complex v0.84 EXOSC9 Zornitza Stark Marked gene: EXOSC9 as ready
Hereditary Neuropathy - complex v0.84 EXOSC9 Zornitza Stark Gene: exosc9 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.84 EXOSC9 Zornitza Stark Classified gene: EXOSC9 as Green List (high evidence)
Hereditary Neuropathy - complex v0.84 EXOSC9 Zornitza Stark Gene: exosc9 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.83 EXOSC9 Zornitza Stark gene: EXOSC9 was added
gene: EXOSC9 was added to Hereditary Neuropathy - complex. Sources: Expert Review
Mode of inheritance for gene: EXOSC9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC9 were set to 30690203; 29727687
Phenotypes for gene: EXOSC9 were set to Pontocerebellar hypoplasia, type 1D, MIM# 618065
Review for gene: EXOSC9 was set to GREEN
Added comment: Six unrelated families reported, p.Leu14Pro variant is recurrent, disorder combines cerebellar atrophy and spinal motoneuronopathy.
Sources: Expert Review
Hereditary Neuropathy - complex v0.82 EXOSC8 Zornitza Stark Phenotypes for gene: EXOSC8 were changed from dHMN/dSMA; Pontocerebellar hypoplasia, type 1c to dHMN/dSMA; Pontocerebellar hypoplasia, type 1c, MIM# 616081
Hereditary Neuropathy - complex v0.81 EXOSC8 Zornitza Stark Publications for gene: EXOSC8 were set to
Hereditary Neuropathy - complex v0.80 EXOSC8 Zornitza Stark Classified gene: EXOSC8 as Green List (high evidence)
Hereditary Neuropathy - complex v0.80 EXOSC8 Zornitza Stark Gene: exosc8 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.79 EXOSC8 Zornitza Stark Deleted their comment
Hereditary Neuropathy - complex v0.79 EXOSC8 Zornitza Stark commented on gene: EXOSC8: Panel is both paediatric and adult, condition has an SMA component in addition to the PCH.
Hereditary Neuropathy - complex v0.79 EXOSC8 Zornitza Stark reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24989451; Phenotypes: Pontocerebellar hypoplasia, type 1C, MIM# 616081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.58 EXOSC8 Zornitza Stark reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24989451; Phenotypes: Pontocerebellar hypoplasia, type 1C, MIM# 616081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4593 EXOSC9 Zornitza Stark Marked gene: EXOSC9 as ready
Mendeliome v0.4593 EXOSC9 Zornitza Stark Gene: exosc9 has been classified as Green List (High Evidence).
Mendeliome v0.4593 EXOSC9 Zornitza Stark Phenotypes for gene: EXOSC9 were changed from to Pontocerebellar hypoplasia, type 1D, MIM# 618065
Mendeliome v0.4592 EXOSC9 Zornitza Stark Publications for gene: EXOSC9 were set to
Mendeliome v0.4591 EXOSC9 Zornitza Stark Mode of inheritance for gene: EXOSC9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4590 EXOSC9 Zornitza Stark reviewed gene: EXOSC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 30690203, 29727687; Phenotypes: Pontocerebellar hypoplasia, type 1D, MIM# 618065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.69 INS Lilian Downie gene: INS was added
gene: INS was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: INS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: INS were set to Diabetes mellitus, permanent neonatal MIM# 618858Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life
Review for gene: INS was set to GREEN
Added comment: Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life. Not assessed by Babyseq, included in NC NEXUS list.
Sources: Expert list
Motor Neurone Disease v0.58 DNAJB2 Zornitza Stark reviewed gene: DNAJB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Additional findings_Paediatric v0.69 IRF6 Lilian Downie reviewed gene: IRF6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: van der Woude syndrome MIM# 119300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.69 IYD Lilian Downie reviewed gene: IYD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18434651, 18765512, 30240412; Phenotypes: Thyroid dyshormonogenesis 4 MIM# 274800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4590 SLC7A14 Zornitza Stark Marked gene: SLC7A14 as ready
Mendeliome v0.4590 SLC7A14 Zornitza Stark Gene: slc7a14 has been classified as Red List (Low Evidence).
Mendeliome v0.4590 SLC7A14 Zornitza Stark Phenotypes for gene: SLC7A14 were changed from to Retinitis pigmentosa 68, MIM# MIM#615725
Mendeliome v0.4589 SLC7A14 Zornitza Stark Publications for gene: SLC7A14 were set to
Mendeliome v0.4588 SLC7A14 Zornitza Stark Mode of inheritance for gene: SLC7A14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4587 SLC7A14 Zornitza Stark Classified gene: SLC7A14 as Red List (low evidence)
Mendeliome v0.4587 SLC7A14 Zornitza Stark Gene: slc7a14 has been classified as Red List (Low Evidence).
Mendeliome v0.4586 SLC7A14 Zornitza Stark Tag disputed tag was added to gene: SLC7A14.
Mendeliome v0.4586 SLC7A14 Zornitza Stark reviewed gene: SLC7A14: Rating: RED; Mode of pathogenicity: None; Publications: 31921845, 30924391, 24670872; Phenotypes: Retinitis pigmentosa 68, MIM# MIM#615725; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.65 SLC7A14 Zornitza Stark Tag disputed tag was added to gene: SLC7A14.
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.65 SLC7A14 Zornitza Stark Marked gene: SLC7A14 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.65 SLC7A14 Zornitza Stark Gene: slc7a14 has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.65 ADIPOR1 Zornitza Stark Marked gene: ADIPOR1 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.65 ADIPOR1 Zornitza Stark Gene: adipor1 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.65 Zornitza Stark Panel name changed from Autosomal Recessive/X-Linked Retinitis Pigmentosa to Retinitis pigmentosa_Autosomal Recessive/X-linked
Retinitis pigmentosa_Autosomal Dominant v0.12 Zornitza Stark Panel name changed from Autosomal Dominant Retinitis Pigmentosa to Retinitis pigmentosa_Autosomal Dominant
Hyperthyroidism v0.8 THRB Zornitza Stark Marked gene: THRB as ready
Hyperthyroidism v0.8 THRB Zornitza Stark Gene: thrb has been classified as Green List (High Evidence).
Hyperthyroidism v0.8 THRB Zornitza Stark Phenotypes for gene: THRB were changed from Thyroid Hormone Resistance, Selective Pituitary; 145650; THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; thyroid hormone unresponsiveness, generalized RTH, RTH beta; THYROID HORMONE UNRESPONSIVENESS; REFETOFF SYNDROME; Refetoff syndrome; THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; PRTH; Thyroid hormone resistance, selective pituitary, 145650; GRTH; THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; Resistance to thyroid hormone (RTH); Thyroid hormone resistance, 188570; Thyroid hormone resistance, autosomal recessive, 274300; Thyroid Hormone Resistance (monoallelic); HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION; THYROID HORMONE UNRESPONSIVENESS HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES to Thyroid hormone resistance, MIM# 188570; Thyroid hormone resistance, autosomal recessive, MIM# 274300; Thyroid hormone resistance, selective pituitary, MIM# 145650
Hyperthyroidism v0.7 THRB Zornitza Stark Publications for gene: THRB were set to 24847459
Hyperthyroidism v0.6 THRB Zornitza Stark Mode of pathogenicity for gene: THRB was changed from to Other
Hyperthyroidism v0.5 THRB Zornitza Stark Mode of inheritance for gene: THRB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hyperthyroidism v0.4 THRA Anna Le Fevre reviewed gene: THRA: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25135573, 27381958, 24847459, 27144938; Phenotypes: #190120 THYROID HORMONE RECEPTOR, ALPHA-1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hyperthyroidism v0.4 THRB Anna Le Fevre changed review comment from: Monoallelic variants in THRB can cause a dominant negative effect as the altered receptor inhibits the function of the wild-type thyroid hormone receptor (THR) β. This can lead to elevated thyroid hormone signaling through THRα
receptors.

Diagnosis of this familial euthyroid hyperthyroxinemia is important to avoid unnecessary medical or surgical treatment and may impact on pregnancy management.

Different variants can have varying effects on THRβ function and THRβ expression varies among organs, which is thought to make the genotype and phenotype relationship unclear. There is overlap between the previously subcategorised peripheral, isolated pituitary and generalised phenotypes.

Biallelic variants cause a more severe phenotype including hearing impairment (consider adding THRB to hearing loss panel). A speculated mechanism in this condition is dominant-negative effect of mutant THRβ on wild-type THRα.; to: Monoallelic variants in THRB can cause a dominant negative effect due to an altered thyroid hormone receptor (THR) β inhibiting the function of the wild-type THRβ. This can lead to elevated thyroid hormone signaling through THRα receptors.

Diagnosis of this familial euthyroid hyperthyroxinemia is important to avoid unnecessary medical or surgical treatment and may impact on pregnancy management.

Different variants can have varying effects on THRβ function and THRβ expression varies among organs, which is thought to make the genotype and phenotype relationship unclear. There is overlap between the previously subcategorised peripheral, isolated pituitary and generalised phenotypes.

Biallelic variants cause a more severe phenotype including hearing impairment (consider adding THRB to hearing loss panel). A speculated mechanism in this condition is dominant-negative effect of mutant THRβ on wild-type THRα.
Hyperthyroidism v0.4 THRB Anna Le Fevre reviewed gene: THRB: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25135573, 31590893; Phenotypes: #188570 THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT, #274300 THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE, #145650 THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hyperthyroidism v0.4 TTR Zornitza Stark Marked gene: TTR as ready
Hyperthyroidism v0.4 TTR Zornitza Stark Gene: ttr has been classified as Green List (High Evidence).
Hyperthyroidism v0.4 TTR Zornitza Stark Publications for gene: TTR were set to 31590893; 26522458
Hyperthyroidism v0.3 ALB Anna Le Fevre edited their review of gene: ALB: Added comment: Gain of function mechanism.
Specific variants in ALB cause increased binding affinity for thyroid hormones. Immunoassay methods may show variably elevated free thyroid hormone levels. Individuals are euthyroid and identification is important to avoid unnecessary medical or surgical treatment.

Allelic conditions:
#616000 ANALBUMINEMIA; ANALBA
Biallelic loss of function variants cause very low amounts of circulating serum albumin.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hyperthyroidism v0.3 ALB Zornitza Stark reviewed gene: ALB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial dysalbuminaemic hyperthyroxinaemia, [Dysalbuminemic hyperthyroxinemia], 615999; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hyperthyroidism v0.3 TTR Anna Le Fevre reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 31590893, 26522458, 8784093; Phenotypes: # 145680 HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC, DTTRH; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hyperthyroidism v0.3 ALB Anna Le Fevre Deleted their comment
Hyperthyroidism v0.3 ALB Anna Le Fevre changed review comment from: Gain-of-function mechanism.
Individuals with FDH-T4 or FDH-T3 present with altered thyroid function tests, but they are clinically euthyroid. Therefore, early identification of the syndromes is important to avoid unnecessary medical or surgical treatment. Both are dominantly inherited conditions caused by missense variants of ALB with increased affinity for thyroid hormones.

The allelic condition Analbuminemia is a rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin and is caused by biallelic loss of function variants.; to: Gain-of-function mechanism.
Individuals with FDH-T4 or FDH-T3 present with altered thyroid function tests, but they are clinically euthyroid. Therefore, early identification of the syndromes is important to avoid unnecessary medical or surgical treatment. Both are dominantly inherited conditions caused by missense variants of ALB with increased affinity for thyroid hormones.

The allelic condition Analbuminemia (ANALBUMINEMIA; ANALBA OMIM#616000) is a rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin and is caused by biallelic loss of function variants.
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.63 SCAPER Zornitza Stark Marked gene: SCAPER as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.63 SCAPER Zornitza Stark Gene: scaper has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.63 SCAPER Zornitza Stark Publications for gene: SCAPER were set to 28794130; 31069901; 31192531; 30723319
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.62 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Retinitis pigmentosa_Autosomal Dominant v0.10 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Retinitis Pigmentosa Superpanel v0.68 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Mendeliome v0.4586 ATP6V1B1 Zornitza Stark Marked gene: ATP6V1B1 as ready
Mendeliome v0.4586 ATP6V1B1 Zornitza Stark Gene: atp6v1b1 has been classified as Green List (High Evidence).
Mendeliome v0.4586 ATP6V1B1 Zornitza Stark Phenotypes for gene: ATP6V1B1 were changed from to Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300
Mendeliome v0.4585 ATP6V1B1 Zornitza Stark Publications for gene: ATP6V1B1 were set to
Mendeliome v0.4584 ATP6V1B1 Zornitza Stark Mode of inheritance for gene: ATP6V1B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4583 ATP6V1B1 Zornitza Stark reviewed gene: ATP6V1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9916796, 12414817, 16611712, 18798332; Phenotypes: Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.408 ATP6V1B1 Zornitza Stark Marked gene: ATP6V1B1 as ready
Deafness_IsolatedAndComplex v0.408 ATP6V1B1 Zornitza Stark Gene: atp6v1b1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.408 ATP6V1B1 Zornitza Stark Phenotypes for gene: ATP6V1B1 were changed from to Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300
Deafness_IsolatedAndComplex v0.407 ATP6V1B1 Zornitza Stark Publications for gene: ATP6V1B1 were set to
Deafness_IsolatedAndComplex v0.406 ATP6V1B1 Zornitza Stark Mode of inheritance for gene: ATP6V1B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.405 ATP6V1B1 Zornitza Stark reviewed gene: ATP6V1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9916796, 12414817, 16611712, 18798332; Phenotypes: Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.405 ATP2B2 Zornitza Stark Phenotypes for gene: ATP2B2 were changed from progressive sensorineural deafness to Dominant progressive sensorineural deafness; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386
Mendeliome v0.4583 ATP2B2 Zornitza Stark reviewed gene: ATP2B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30535804, 15829536; Phenotypes: Dominant progressive sensorineural deafness, {Deafness, autosomal recessive 12, modifier of}, MIM# 601386; Mode of inheritance: None
Deafness_IsolatedAndComplex v0.404 ATP2B2 Zornitza Stark reviewed gene: ATP2B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30535804, 15829536; Phenotypes: Dominant deafness, {Deafness, autosomal recessive 12, modifier of}, MIM# 601386; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.404 ALMS1 Zornitza Stark Marked gene: ALMS1 as ready
Deafness_IsolatedAndComplex v0.404 ALMS1 Zornitza Stark Gene: alms1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.404 ALMS1 Zornitza Stark Phenotypes for gene: ALMS1 were changed from to Alstrom syndrome, MIM# 203800
Deafness_IsolatedAndComplex v0.403 ALMS1 Zornitza Stark Publications for gene: ALMS1 were set to
Deafness_IsolatedAndComplex v0.402 ALMS1 Zornitza Stark Mode of inheritance for gene: ALMS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.401 ALMS1 Zornitza Stark reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11941369, 17594715; Phenotypes: Alstrom syndrome, MIM# 203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.401 ADGRV1 Zornitza Stark Marked gene: ADGRV1 as ready
Deafness_IsolatedAndComplex v0.401 ADGRV1 Zornitza Stark Gene: adgrv1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.401 ADGRV1 Zornitza Stark Phenotypes for gene: ADGRV1 were changed from to Usher syndrome, type 2C, MIM# 605472
Deafness_IsolatedAndComplex v0.400 ADGRV1 Zornitza Stark Publications for gene: ADGRV1 were set to
Deafness_IsolatedAndComplex v0.399 ADGRV1 Zornitza Stark Mode of inheritance for gene: ADGRV1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.398 ADGRV1 Zornitza Stark reviewed gene: ADGRV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22147658, 25572244, 14740321; Phenotypes: Usher syndrome, type 2C, MIM# 605472; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.69 KRIT1 Zornitza Stark Marked gene: KRIT1 as ready
Additional findings_Paediatric v0.69 KRIT1 Zornitza Stark Added comment: Comment when marking as ready: Agree, potentially actionable in childhood.
Additional findings_Paediatric v0.69 KRIT1 Zornitza Stark Gene: krit1 has been classified as Amber List (Moderate Evidence).
Additional findings_Paediatric v0.69 KRIT1 Zornitza Stark Classified gene: KRIT1 as Amber List (moderate evidence)
Additional findings_Paediatric v0.69 KRIT1 Zornitza Stark Gene: krit1 has been classified as Amber List (Moderate Evidence).
Additional findings_Paediatric v0.68 MYH7 Zornitza Stark Marked gene: MYH7 as ready
Additional findings_Paediatric v0.68 MYH7 Zornitza Stark Gene: myh7 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.68 MYH7 Zornitza Stark Phenotypes for gene: MYH7 were changed from Left ventricular noncompaction; Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated; Congenital fiber type disproportion; Myopathy, myosin storage; Laing distal myopathy; Scapuloperoneal syndrome, myopathic type to Myopathy and cardiomyopathy MIM#160760
Additional findings_Paediatric v0.67 MYH7 Zornitza Stark Classified gene: MYH7 as Green List (high evidence)
Additional findings_Paediatric v0.67 MYH7 Zornitza Stark Gene: myh7 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.66 NTRK1 Zornitza Stark Marked gene: NTRK1 as ready
Additional findings_Paediatric v0.66 NTRK1 Zornitza Stark Gene: ntrk1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.66 NTRK1 Zornitza Stark Phenotypes for gene: NTRK1 were changed from Medullary thyroid carcinoma, familial; Congenital insensitivity to pain with anhidrosis to Congenital insensitivity to pain with anhidrosis MIM#256800
Additional findings_Paediatric v0.65 NTRK1 Zornitza Stark Mode of inheritance for gene: NTRK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.64 NTRK1 Zornitza Stark Classified gene: NTRK1 as Green List (high evidence)
Additional findings_Paediatric v0.64 NTRK1 Zornitza Stark Gene: ntrk1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.63 DUOXA2 Zornitza Stark edited their review of gene: DUOXA2: Changed phenotypes: Thyroid dyshormonogenesis 5, MIM# 274900
Additional findings_Paediatric v0.63 DUOXA2 Zornitza Stark reviewed gene: DUOXA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.63 DCX Zornitza Stark Marked gene: DCX as ready
Additional findings_Paediatric v0.63 DCX Zornitza Stark Gene: dcx has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.63 DCX Zornitza Stark Phenotypes for gene: DCX were changed from Lennox-Gastaut syndrome; Lissencephaly, X-linked to Lissencephaly, X-linked, MIM# 300067
Additional findings_Paediatric v0.62 DCX Zornitza Stark Classified gene: DCX as Green List (high evidence)
Additional findings_Paediatric v0.62 DCX Zornitza Stark Gene: dcx has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.61 DCX Zornitza Stark reviewed gene: DCX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly, X-linked, MIM# 300067; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Additional findings_Paediatric v0.61 COL1A1 Zornitza Stark Marked gene: COL1A1 as ready
Additional findings_Paediatric v0.61 COL1A1 Zornitza Stark Gene: col1a1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.61 COL1A1 Zornitza Stark Phenotypes for gene: COL1A1 were changed from Caffey disease; Osteogenesis imperfecta, type I to Osteogenesis imperfecta, type I
Additional findings_Paediatric v0.60 COL1A1 Zornitza Stark Classified gene: COL1A1 as Green List (high evidence)
Additional findings_Paediatric v0.60 COL1A1 Zornitza Stark Gene: col1a1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.59 COL1A1 Zornitza Stark reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type I; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.59 CLCN7 Zornitza Stark Marked gene: CLCN7 as ready
Additional findings_Paediatric v0.59 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.59 CLCN7 Zornitza Stark Phenotypes for gene: CLCN7 were changed from Osteopetrosis to Osteopetrosis, autosomal recessive 4, MIM# 611490
Additional findings_Paediatric v0.58 CLCN7 Zornitza Stark Mode of inheritance for gene: CLCN7 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.57 CLCN7 Zornitza Stark Classified gene: CLCN7 as Green List (high evidence)
Additional findings_Paediatric v0.57 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.56 CLCN7 Zornitza Stark reviewed gene: CLCN7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 4, MIM# 611490; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.56 CLCN1 Zornitza Stark Marked gene: CLCN1 as ready
Additional findings_Paediatric v0.56 CLCN1 Zornitza Stark Gene: clcn1 has been classified as Red List (Low Evidence).
Additional findings_Paediatric v0.56 CLCN1 Zornitza Stark Phenotypes for gene: CLCN1 were changed from Myotonia congenita to Myotonia congenita, dominant, MIM# 160800; Myotonia congenita, recessive, MIM# 255700
Additional findings_Paediatric v0.55 CLCN1 Zornitza Stark Mode of inheritance for gene: CLCN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.54 CLCN1 Zornitza Stark reviewed gene: CLCN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myotonia congenita, dominant, MIM# 160800, Myotonia congenita, recessive, MIM# 255700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.54 CD3D Zornitza Stark Marked gene: CD3D as ready
Additional findings_Paediatric v0.54 CD3D Zornitza Stark Gene: cd3d has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.54 CD3D Zornitza Stark Classified gene: CD3D as Green List (high evidence)
Additional findings_Paediatric v0.54 CD3D Zornitza Stark Gene: cd3d has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.53 CD3D Zornitza Stark gene: CD3D was added
gene: CD3D was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: CD3D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD3D were set to Immunodeficiency 19, MIM# 615617
Review for gene: CD3D was set to GREEN
Added comment: SCID phenotype, treatable by BMT. Included in NC Nexus panel.
Sources: Expert list
Additional findings_Paediatric v0.52 CAV3 Zornitza Stark Marked gene: CAV3 as ready
Additional findings_Paediatric v0.52 CAV3 Zornitza Stark Gene: cav3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.52 CAV3 Zornitza Stark Phenotypes for gene: CAV3 were changed from Cardiomyopathy, familial hypertrophic; Rippling muscle disease; Long QT syndrome-9; Caveolinopathy; Muscular dystrophy, limb-girdle, type IC, to Muscular dystrophy, limb-girdle, type IC; Caveolinopathy
Additional findings_Paediatric v0.51 CAV3 Zornitza Stark Mode of inheritance for gene: CAV3 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.50 CAV3 Zornitza Stark Classified gene: CAV3 as Green List (high evidence)
Additional findings_Paediatric v0.50 CAV3 Zornitza Stark Gene: cav3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.49 CAV3 Zornitza Stark reviewed gene: CAV3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, type IC, Caveolinopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.49 CARD11 Zornitza Stark Marked gene: CARD11 as ready
Additional findings_Paediatric v0.49 CARD11 Zornitza Stark Gene: card11 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.49 CARD11 Zornitza Stark Classified gene: CARD11 as Green List (high evidence)
Additional findings_Paediatric v0.49 CARD11 Zornitza Stark Gene: card11 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.48 CARD11 Zornitza Stark gene: CARD11 was added
gene: CARD11 was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: CARD11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CARD11 were set to 23561803; 12818158; 23374270; 28628108
Phenotypes for gene: CARD11 were set to Immunodeficiency 11A, MIM# 615206
Review for gene: CARD11 was set to GREEN
Added comment: At least two individuals with bi-allelic, and four with mono-allelic variants, animal model. Included in NC NEXUS panel.
Sources: Expert list
Additional findings_Paediatric v0.47 KRIT1 Lilian Downie gene: KRIT1 was added
gene: KRIT1 was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRIT1 were set to PMID: 30061145, 20301470, 27561926
Phenotypes for gene: KRIT1 were set to Cerebral cavernous malformations-1 MIM# 116860
Review for gene: KRIT1 was set to AMBER
Added comment: Not evaluated by Babyseq, included in NC NEXUS list. Cerebral cavernous angiomas are relatively rare vascular malformations that may involve any part of the central nervous system. Complications of rupture/bleeding can cause seizures, stroke, neurological deficits. Screening and management is available. Rare but can be paediatric onset: see PMID's.
Sources: Expert list
Additional findings_Paediatric v0.47 MYH7 Lilian Downie reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy and cardiomyopathy MIM#160760; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.47 NTRK1 Lilian Downie reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Insensitivity to pain, congenital, with anhidrosis MIM#256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.50 C1orf194 Zornitza Stark Publications for gene: C1orf194 were set to 31199454
Hereditary Neuropathy_CMT - isolated v0.49 C1orf194 Zornitza Stark edited their review of gene: C1orf194: Added comment: PMID: 32592472 (2020) - An additional knockout mouse model by same research group, demonstrating defects in motor and sensory functions, myelination abnormalities, peripheral nerve loss and muscle atrophy.; Changed publications: 31199454, 32592472
Mendeliome v0.4583 C1orf194 Zornitza Stark Phenotypes for gene: C1orf194 were changed from Charcot-Marie-Tooth to Charcot-Marie-Tooth disease, intermediate or demyelinating
Mendeliome v0.4582 C1orf194 Zornitza Stark Publications for gene: C1orf194 were set to PMID: 31199454
Mendeliome v0.4581 ALB Zornitza Stark Marked gene: ALB as ready
Mendeliome v0.4581 ALB Zornitza Stark Gene: alb has been classified as Green List (High Evidence).
Mendeliome v0.4581 ALB Zornitza Stark Phenotypes for gene: ALB were changed from to Familial dysalbuminaemic hyperthyroxinaemia; [Dysalbuminemic hyperthyroxinemia], 615999; Analbuminemia, MIM# 616000
Mendeliome v0.4580 ALB Zornitza Stark Publications for gene: ALB were set to
Mendeliome v0.4579 ALB Zornitza Stark Mode of inheritance for gene: ALB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.4578 ALB Zornitza Stark reviewed gene: ALB: Rating: GREEN; Mode of pathogenicity: None; Publications: 29163366, 24646103, 8064810, 27834068, 32635414; Phenotypes: Familial dysalbuminaemic hyperthyroxinaemia, [Dysalbuminemic hyperthyroxinemia], 615999, Analbuminemia, MIM# 616000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hyperthyroidism v0.3 ALB Zornitza Stark Marked gene: ALB as ready
Hyperthyroidism v0.3 ALB Zornitza Stark Gene: alb has been classified as Green List (High Evidence).
Hyperthyroidism v0.3 ALB Zornitza Stark Publications for gene: ALB were set to 29163366; 24646103; 8064810; 27834068
Hyperthyroidism v0.2 ALB Zornitza Stark Mode of pathogenicity for gene: ALB was changed from to Other
Early-onset Dementia v0.121 TUBA4A Zornitza Stark Marked gene: TUBA4A as ready
Early-onset Dementia v0.121 TUBA4A Zornitza Stark Gene: tuba4a has been classified as Amber List (Moderate Evidence).
Incidentalome v0.43 TUBA4A Zornitza Stark Marked gene: TUBA4A as ready
Incidentalome v0.43 TUBA4A Zornitza Stark Gene: tuba4a has been classified as Amber List (Moderate Evidence).
Incidentalome v0.43 TUBA4A Zornitza Stark Phenotypes for gene: TUBA4A were changed from to Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208
Incidentalome v0.42 TUBA4A Zornitza Stark Publications for gene: TUBA4A were set to
Incidentalome v0.41 TUBA4A Zornitza Stark Mode of inheritance for gene: TUBA4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.40 TUBA4A Zornitza Stark Classified gene: TUBA4A as Amber List (moderate evidence)
Incidentalome v0.40 TUBA4A Zornitza Stark Gene: tuba4a has been classified as Amber List (Moderate Evidence).
Early-onset Dementia v0.121 TUBA4A Zornitza Stark Phenotypes for gene: TUBA4A were changed from to Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208
Incidentalome v0.39 TUBA4A Zornitza Stark reviewed gene: TUBA4A: Rating: AMBER; Mode of pathogenicity: None; Publications: 28069311, 25374358, 26675813; Phenotypes: Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.58 TUBA4A Zornitza Stark Marked gene: TUBA4A as ready
Motor Neurone Disease v0.58 TUBA4A Zornitza Stark Gene: tuba4a has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.58 TUBA4A Zornitza Stark Phenotypes for gene: TUBA4A were changed from to Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208
Motor Neurone Disease v0.57 TUBA4A Zornitza Stark Publications for gene: TUBA4A were set to
Motor Neurone Disease v0.56 TUBA4A Zornitza Stark Mode of inheritance for gene: TUBA4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.55 TUBA4A Zornitza Stark Classified gene: TUBA4A as Amber List (moderate evidence)
Motor Neurone Disease v0.55 TUBA4A Zornitza Stark Gene: tuba4a has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.54 TUBA4A Zornitza Stark reviewed gene: TUBA4A: Rating: AMBER; Mode of pathogenicity: None; Publications: 28069311, 25374358, 26675813; Phenotypes: Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.120 TUBA4A Zornitza Stark Publications for gene: TUBA4A were set to
Early-onset Dementia v0.119 TUBA4A Zornitza Stark Mode of inheritance for gene: TUBA4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.118 TUBA4A Zornitza Stark Classified gene: TUBA4A as Amber List (moderate evidence)
Early-onset Dementia v0.118 TUBA4A Zornitza Stark Gene: tuba4a has been classified as Amber List (Moderate Evidence).
Early-onset Dementia v0.117 TUBA4A Zornitza Stark reviewed gene: TUBA4A: Rating: AMBER; Mode of pathogenicity: None; Publications: 28069311, 25374358, 26675813; Phenotypes: Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.117 CHCHD10 Zornitza Stark Publications for gene: CHCHD10 were set to 24934289; 31690696; 30877432; 32369233
Early-onset Dementia v0.116 CHCHD10 Zornitza Stark changed review comment from: CHCHD10 is a small protein of the mitochondrial intermembrane space that is enriched at cristae junctions. It is predicted to be involved in oxidative phosphorylation or in maintenance of cristae morphology. Variants have been associated with a broad spectrum of neurological/neuromuscular phenotypes. Several large multiplex families described segregating different neurological disorders, ranging from dementia, to SMA, to myopathy. GOF mechanism has been proposed for FTD/ALS association based on a mouse model.

Two families reported with p.Ser59Leu variant and predominantly a dementia phenotype. Variant segregated with disease in 8 family members in one of the families. No variants in this gene identified in an Australian cohort study, PMID 31690696; however, good functional data including from mouse model supports gene-disease association.; to: CHCHD10 is a small protein of the mitochondrial intermembrane space that is enriched at cristae junctions. It is predicted to be involved in oxidative phosphorylation or in maintenance of cristae morphology. Variants have been associated with a broad spectrum of neurological/neuromuscular phenotypes. Several large multiplex families described segregating different neurological disorders, ranging from dementia, to SMA, to myopathy. GOF mechanism has been proposed for FTD/ALS association based on a mouse model.

Two families reported with p.Ser59Leu variant, and one with a truncating variant and predominantly a dementia phenotype. Variant segregated with disease in 8 family members in one of the families. No variants in this gene identified in an Australian cohort study, PMID 31690696; however, good functional data including from mouse model supports gene-disease association.
Early-onset Dementia v0.116 CHCHD10 Zornitza Stark edited their review of gene: CHCHD10: Changed publications: 24934289, 31690696, 30877432, 32369233, 28069311
Early-onset Dementia v0.116 TTR Zornitza Stark Marked gene: TTR as ready
Early-onset Dementia v0.116 TTR Zornitza Stark Gene: ttr has been classified as Green List (High Evidence).
Early-onset Dementia v0.116 TTR Zornitza Stark Phenotypes for gene: TTR were changed from to Amyloidosis, hereditary, transthyretin-related, MIM# 105210
Early-onset Dementia v0.115 TTR Zornitza Stark Publications for gene: TTR were set to
Early-onset Dementia v0.114 TTR Zornitza Stark Mode of inheritance for gene: TTR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.113 TTR Zornitza Stark reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301373; Phenotypes: Amyloidosis, hereditary, transthyretin-related, MIM# 105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4578 TREM2 Zornitza Stark Marked gene: TREM2 as ready
Mendeliome v0.4578 TREM2 Zornitza Stark Gene: trem2 has been classified as Green List (High Evidence).
Mendeliome v0.4578 TREM2 Zornitza Stark Phenotypes for gene: TREM2 were changed from to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193
Mendeliome v0.4577 TREM2 Zornitza Stark Publications for gene: TREM2 were set to
Mendeliome v0.4576 TREM2 Zornitza Stark Mode of inheritance for gene: TREM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4575 TREM2 Zornitza Stark reviewed gene: TREM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12080485, 15883308; Phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.170 TREM2 Zornitza Stark Marked gene: TREM2 as ready
Regression v0.170 TREM2 Zornitza Stark Gene: trem2 has been classified as Red List (Low Evidence).
Regression v0.170 TREM2 Zornitza Stark Phenotypes for gene: TREM2 were changed from to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193
Regression v0.169 TREM2 Zornitza Stark Publications for gene: TREM2 were set to
Regression v0.168 TREM2 Zornitza Stark Mode of inheritance for gene: TREM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.167 TREM2 Zornitza Stark Classified gene: TREM2 as Red List (low evidence)
Regression v0.167 TREM2 Zornitza Stark Gene: trem2 has been classified as Red List (Low Evidence).
Regression v0.166 TREM2 Zornitza Stark reviewed gene: TREM2: Rating: RED; Mode of pathogenicity: None; Publications: 12080485, 15883308; Phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.113 TREM2 Zornitza Stark Marked gene: TREM2 as ready
Early-onset Dementia v0.113 TREM2 Zornitza Stark Gene: trem2 has been classified as Green List (High Evidence).
Early-onset Dementia v0.113 TREM2 Zornitza Stark Phenotypes for gene: TREM2 were changed from to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193
Early-onset Dementia v0.112 TREM2 Zornitza Stark Publications for gene: TREM2 were set to
Early-onset Dementia v0.111 TREM2 Zornitza Stark Mode of inheritance for gene: TREM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.110 TREM2 Zornitza Stark reviewed gene: TREM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12080485, 15883308; Phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4575 SPG21 Zornitza Stark Marked gene: SPG21 as ready
Mendeliome v0.4575 SPG21 Zornitza Stark Gene: spg21 has been classified as Green List (High Evidence).
Mendeliome v0.4575 SPG21 Zornitza Stark Phenotypes for gene: SPG21 were changed from to Mast syndrome, MIM# 248900
Mendeliome v0.4574 SPG21 Zornitza Stark Publications for gene: SPG21 were set to
Mendeliome v0.4573 SPG21 Zornitza Stark Mode of inheritance for gene: SPG21 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4572 SPG21 Zornitza Stark Tag new gene name tag was added to gene: SPG21.
Mendeliome v0.4572 SPG21 Zornitza Stark reviewed gene: SPG21: Rating: GREEN; Mode of pathogenicity: None; Publications: 14564668, 24451228, 28752238, 26978163; Phenotypes: Mast syndrome, MIM# 248900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - adult onset v0.42 SPG21 Zornitza Stark Marked gene: SPG21 as ready
Hereditary Spastic Paraplegia - adult onset v0.42 SPG21 Zornitza Stark Gene: spg21 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.42 SPG21 Zornitza Stark Tag new gene name tag was added to gene: SPG21.
Hereditary Spastic Paraplegia - adult onset v0.42 SPG21 Zornitza Stark Publications for gene: SPG21 were set to
Hereditary Spastic Paraplegia - adult onset v0.41 SPG21 Zornitza Stark reviewed gene: SPG21: Rating: GREEN; Mode of pathogenicity: None; Publications: 14564668, 24451228, 28752238, 26978163; Phenotypes: Mast syndrome, MIM# 248900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - adult onset v0.82 SPG21 Zornitza Stark Marked gene: SPG21 as ready
Leukodystrophy - adult onset v0.82 SPG21 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is SPG21.
Leukodystrophy - adult onset v0.82 SPG21 Zornitza Stark Gene: spg21 has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.82 SPG21 Zornitza Stark Tag new gene name tag was added to gene: SPG21.
Early-onset Dementia v0.110 SPG21 Zornitza Stark changed review comment from: Mast syndrome is an autosomal recessive complicated form of hereditary spastic paraplegia in which progressive spastic paraparesis is associated in more advanced cases with cognitive decline, dementia, and other neurologic abnormalities. Symptom onset usually occurs in adulthood, and the disorder is progressive with variable severity. Brain imaging shows thinning of the corpus callosum. The disorder occurs with high frequency in the Old Order Amish. Founder variant in Amish, two additional families and a mouse model.; to: Mast syndrome is an autosomal recessive complicated form of hereditary spastic paraplegia in which progressive spastic paraparesis is associated in more advanced cases with cognitive decline, dementia, and other neurologic abnormalities. Symptom onset usually occurs in adulthood, and the disorder is progressive with variable severity. Brain imaging shows thinning of the corpus callosum. The disorder occurs with high frequency in the Old Order Amish. Founder variant in Amish, two additional families and a mouse model.

New HGNC approved gene name is ACP33
Early-onset Dementia v0.110 SPG21 Zornitza Stark Tag new gene name tag was added to gene: SPG21.
Early-onset Dementia v0.110 SPG21 Zornitza Stark Marked gene: SPG21 as ready
Early-onset Dementia v0.110 SPG21 Zornitza Stark Gene: spg21 has been classified as Green List (High Evidence).
Early-onset Dementia v0.110 SPG21 Zornitza Stark Phenotypes for gene: SPG21 were changed from to Mast syndrome, MIM# 248900
Early-onset Dementia v0.109 SPG21 Zornitza Stark Publications for gene: SPG21 were set to
Early-onset Dementia v0.108 SPG21 Zornitza Stark Mode of inheritance for gene: SPG21 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.107 SPG21 Zornitza Stark edited their review of gene: SPG21: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.107 SPG21 Zornitza Stark edited their review of gene: SPG21: Changed rating: GREEN
Early-onset Dementia v0.107 SPG21 Zornitza Stark reviewed gene: SPG21: Rating: ; Mode of pathogenicity: None; Publications: 14564668, 24451228, 28752238, 26978163; Phenotypes: Mast syndrome, MIM# 248900; Mode of inheritance: None
Incidentalome v0.39 SNCB Zornitza Stark Marked gene: SNCB as ready
Incidentalome v0.39 SNCB Zornitza Stark Gene: sncb has been classified as Red List (Low Evidence).
Incidentalome v0.39 SNCB Zornitza Stark Tag disputed tag was added to gene: SNCB.
Incidentalome v0.39 SNCB Zornitza Stark Phenotypes for gene: SNCB were changed from to Dementia, Lewy body, MIM#127750
Early-onset Dementia v0.107 SNCB Zornitza Stark Tag disputed tag was added to gene: SNCB.
Incidentalome v0.38 SNCB Zornitza Stark Publications for gene: SNCB were set to
Incidentalome v0.37 SNCB Zornitza Stark Mode of inheritance for gene: SNCB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.36 SNCB Zornitza Stark Classified gene: SNCB as Red List (low evidence)
Incidentalome v0.36 SNCB Zornitza Stark Gene: sncb has been classified as Red List (Low Evidence).
Incidentalome v0.35 SNCB Zornitza Stark reviewed gene: SNCB: Rating: RED; Mode of pathogenicity: None; Publications: 15365127, 20697047; Phenotypes: Dementia, Lewy body, MIM#127750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.107 SNCB Zornitza Stark Marked gene: SNCB as ready
Early-onset Dementia v0.107 SNCB Zornitza Stark Gene: sncb has been classified as Red List (Low Evidence).
Early-onset Dementia v0.107 SNCB Zornitza Stark Phenotypes for gene: SNCB were changed from to Dementia, Lewy body, MIM#127750
Early-onset Dementia v0.106 SNCB Zornitza Stark Publications for gene: SNCB were set to
Early-onset Dementia v0.105 SNCB Zornitza Stark Mode of inheritance for gene: SNCB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.104 SNCB Zornitza Stark Classified gene: SNCB as Red List (low evidence)
Early-onset Dementia v0.104 SNCB Zornitza Stark Gene: sncb has been classified as Red List (Low Evidence).
Early-onset Dementia v0.103 SNCB Zornitza Stark reviewed gene: SNCB: Rating: RED; Mode of pathogenicity: None; Publications: 15365127, 20697047; Phenotypes: Dementia, Lewy body, 127750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hyperthyroidism v0.1 ALB Anna Le Fevre edited their review of gene: ALB: Changed publications: PMID: 29163366, 32635414
Hyperthyroidism v0.1 ALB Anna Le Fevre reviewed gene: ALB: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 29163366; Phenotypes: HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC, FDAH (OMIM#615999); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.166 FUS Zornitza Stark Marked gene: FUS as ready
Regression v0.166 FUS Zornitza Stark Gene: fus has been classified as Red List (Low Evidence).
Regression v0.166 FUS Zornitza Stark Phenotypes for gene: FUS were changed from to Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, MIM# 608030
Regression v0.165 FUS Zornitza Stark Mode of inheritance for gene: FUS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.164 FUS Zornitza Stark Classified gene: FUS as Red List (low evidence)
Regression v0.164 FUS Zornitza Stark Gene: fus has been classified as Red List (Low Evidence).
Regression v0.163 FUS Zornitza Stark reviewed gene: FUS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, MIM# 608030; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.103 FUS Zornitza Stark Marked gene: FUS as ready
Early-onset Dementia v0.103 FUS Zornitza Stark Gene: fus has been classified as Green List (High Evidence).
Early-onset Dementia v0.103 FUS Zornitza Stark Phenotypes for gene: FUS were changed from to Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, MIM# 608030
Early-onset Dementia v0.102 FUS Zornitza Stark Publications for gene: FUS were set to
Early-onset Dementia v0.101 FUS Zornitza Stark Mode of inheritance for gene: FUS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.100 FUS Zornitza Stark reviewed gene: FUS: Rating: GREEN; Mode of pathogenicity: None; Publications: 32941707, 32770214; Phenotypes: Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, MIM# 608030; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.100 FTL Zornitza Stark Marked gene: FTL as ready
Early-onset Dementia v0.100 FTL Zornitza Stark Gene: ftl has been classified as Green List (High Evidence).
Early-onset Dementia v0.100 FTL Zornitza Stark Phenotypes for gene: FTL were changed from to Neurodegeneration with brain iron accumulation 3, MIM# 606159
Early-onset Dementia v0.99 FTL Zornitza Stark Publications for gene: FTL were set to
Early-onset Dementia v0.98 FTL Zornitza Stark Mode of inheritance for gene: FTL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.97 FTL Zornitza Stark reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: None; Publications: 11438811, 18854324, 15099026, 15173247; Phenotypes: Neurodegeneration with brain iron accumulation 3, MIM# 606159; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.97 FA2H Zornitza Stark Marked gene: FA2H as ready
Early-onset Dementia v0.97 FA2H Zornitza Stark Gene: fa2h has been classified as Red List (Low Evidence).
Early-onset Dementia v0.97 FA2H Zornitza Stark Phenotypes for gene: FA2H were changed from to Spastic paraplegia 35, autosomal recessive, MIM# 612319
Early-onset Dementia v0.96 FA2H Zornitza Stark Mode of inheritance for gene: FA2H was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.95 FA2H Zornitza Stark Classified gene: FA2H as Red List (low evidence)
Early-onset Dementia v0.95 FA2H Zornitza Stark Gene: fa2h has been classified as Red List (Low Evidence).
Early-onset Dementia v0.94 FA2H Zornitza Stark reviewed gene: FA2H: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 35, autosomal recessive, MIM# 612319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.94 DCTN1 Zornitza Stark Marked gene: DCTN1 as ready
Early-onset Dementia v0.94 DCTN1 Zornitza Stark Gene: dctn1 has been classified as Green List (High Evidence).
Early-onset Dementia v0.94 DCTN1 Zornitza Stark Phenotypes for gene: DCTN1 were changed from to Perry syndrome, MIM# 168605
Early-onset Dementia v0.93 DCTN1 Zornitza Stark Publications for gene: DCTN1 were set to
Early-onset Dementia v0.92 DCTN1 Zornitza Stark Mode of inheritance for gene: DCTN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.91 DCTN1 Zornitza Stark reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19136952; Phenotypes: Perry syndrome, MIM# 168605; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.91 CYP27A1 Zornitza Stark Marked gene: CYP27A1 as ready
Early-onset Dementia v0.91 CYP27A1 Zornitza Stark Gene: cyp27a1 has been classified as Green List (High Evidence).
Early-onset Dementia v0.91 CYP27A1 Zornitza Stark Phenotypes for gene: CYP27A1 were changed from to Cerebrotendinous xanthomatosis, MIM# 213700
Early-onset Dementia v0.90 CYP27A1 Zornitza Stark Mode of inheritance for gene: CYP27A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.89 CYP27A1 Zornitza Stark reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, MIM# 213700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.89 CHCHD10 Zornitza Stark Marked gene: CHCHD10 as ready
Early-onset Dementia v0.89 CHCHD10 Zornitza Stark Gene: chchd10 has been classified as Green List (High Evidence).
Early-onset Dementia v0.89 CHCHD10 Zornitza Stark Phenotypes for gene: CHCHD10 were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, MIM# 615911
Early-onset Dementia v0.88 CHCHD10 Zornitza Stark Publications for gene: CHCHD10 were set to
Early-onset Dementia v0.87 CHCHD10 Zornitza Stark Mode of inheritance for gene: CHCHD10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.86 CHCHD10 Zornitza Stark reviewed gene: CHCHD10: Rating: GREEN; Mode of pathogenicity: None; Publications: 24934289, 31690696, 30877432, 32369233; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, MIM# 615911; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disease - adult onset v0.2 Bryony Thompson Panel status changed from internal to public
Neurodegenerative disease - adult onset v0.1 Bryony Thompson Panel name changed from Neurology and neurodevelopmental disorders to Neurodegenerative disease - adult onset
Neurodegenerative disease - adult onset v0.0 Bryony Thompson Added Panel Neurology and neurodevelopmental disorders
Set child panels to: Ataxia - adult onset; Early-onset Dementia; Early-onset Parkinson disease; Motor Neuron Disease; Hereditary Spastic Paraplegia - adult onset
Set panel types to: Superpanel; Royal Melbourne Hospital; Rare Disease
Early-onset Dementia v0.86 C19orf12 Zornitza Stark Marked gene: C19orf12 as ready
Early-onset Dementia v0.86 C19orf12 Zornitza Stark Gene: c19orf12 has been classified as Green List (High Evidence).
Early-onset Dementia v0.86 C19orf12 Zornitza Stark Phenotypes for gene: C19orf12 were changed from to Neurodegeneration with brain iron accumulation 4, MIM# 614298
Early-onset Dementia v0.85 C19orf12 Zornitza Stark Publications for gene: C19orf12 were set to
Early-onset Dementia v0.84 C19orf12 Zornitza Stark Mode of inheritance for gene: C19orf12 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early-onset Dementia v0.83 C19orf12 Zornitza Stark reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: None; Publications: 23278385, 21981780, 23269600; Phenotypes: Neurodegeneration with brain iron accumulation 4, MIM# 614298; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early-onset Dementia v0.83 ATP13A2 Zornitza Stark Marked gene: ATP13A2 as ready
Early-onset Dementia v0.83 ATP13A2 Zornitza Stark Gene: atp13a2 has been classified as Green List (High Evidence).
Early-onset Dementia v0.83 ATP13A2 Zornitza Stark Phenotypes for gene: ATP13A2 were changed from to Kufor-Rakeb syndrome, MIM# 606693
Early-onset Dementia v0.82 ATP13A2 Zornitza Stark Mode of inheritance for gene: ATP13A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.81 ATP13A2 Zornitza Stark reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kufor-Rakeb syndrome, MIM# 606693; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.81 ARSA Zornitza Stark Marked gene: ARSA as ready
Early-onset Dementia v0.81 ARSA Zornitza Stark Gene: arsa has been classified as Green List (High Evidence).
Early-onset Dementia v0.81 ARSA Zornitza Stark Phenotypes for gene: ARSA were changed from to Metachromatic leukodystrophy, MIM# 250100, adult-onset
Early-onset Dementia v0.80 ARSA Zornitza Stark Publications for gene: ARSA were set to
Early-onset Dementia v0.79 ARSA Zornitza Stark Mode of inheritance for gene: ARSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.78 ARSA Zornitza Stark reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 29486463, 26890752, 15710861; Phenotypes: Metachromatic leukodystrophy, MIM# 250100, adult-onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.78 APOE Zornitza Stark Marked gene: APOE as ready
Early-onset Dementia v0.78 APOE Zornitza Stark Gene: apoe has been classified as Green List (High Evidence).
Early-onset Dementia v0.78 APOE Zornitza Stark Phenotypes for gene: APOE were changed from to Alzheimer disease 2, MIM# 104310
Early-onset Dementia v0.77 APOE Zornitza Stark Mode of inheritance for gene: APOE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.76 APOE Zornitza Stark reviewed gene: APOE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alzheimer disease 2, MIM# 104310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.165 RPS20 Zornitza Stark Marked gene: RPS20 as ready
Bone Marrow Failure v0.165 RPS20 Zornitza Stark Gene: rps20 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.165 RPS20 Zornitza Stark Classified gene: RPS20 as Amber List (moderate evidence)
Bone Marrow Failure v0.165 RPS20 Zornitza Stark Gene: rps20 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.164 RPS20 Zornitza Stark gene: RPS20 was added
gene: RPS20 was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: RPS20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS20 were set to 32790018
Phenotypes for gene: RPS20 were set to Diamond Blackfan anaemia
Review for gene: RPS20 was set to AMBER
Added comment: Two unrelated cases where a de novo variant involving Ile84 (Ile84Ser and Ile84Asn), and reduce the RPS20 protein level in patient cells. Yeast models with mutation of the cognate residue resulted in defects in growth, ribosome biogenesis, and polysome formation. Loss of function may not be the mechanism of disease, because loss of function variants appear to be exclusively associated with familial colorectal cancer without the DBA phenotype.
Sources: Literature
Mendeliome v0.4572 LMX1A Zornitza Stark Marked gene: LMX1A as ready
Mendeliome v0.4572 LMX1A Zornitza Stark Gene: lmx1a has been classified as Green List (High Evidence).
Mendeliome v0.4572 LMX1A Zornitza Stark Phenotypes for gene: LMX1A were changed from to Deafness, autosomal dominant 7 MIM#601412; non-syndromic hearing loss
Mendeliome v0.4571 LMX1A Zornitza Stark Publications for gene: LMX1A were set to
Mendeliome v0.4570 LMX1A Zornitza Stark Mode of inheritance for gene: LMX1A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.4569 LMX1A Zornitza Stark reviewed gene: LMX1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29754270, 32840933, 29971487; Phenotypes: Deafness, autosomal dominant 7 MIM#601412, non-syndromic hearing loss; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.4569 RPS20 Bryony Thompson Marked gene: RPS20 as ready
Mendeliome v0.4569 RPS20 Bryony Thompson Gene: rps20 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4569 RPS20 Bryony Thompson Classified gene: RPS20 as Amber List (moderate evidence)
Mendeliome v0.4569 RPS20 Bryony Thompson Gene: rps20 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4568 RPS20 Bryony Thompson gene: RPS20 was added
gene: RPS20 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RPS20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS20 were set to 32790018
Phenotypes for gene: RPS20 were set to Diamond Blackfan anaemia
Mode of pathogenicity for gene: RPS20 was set to Other
Review for gene: RPS20 was set to AMBER
Added comment: Two unrelated cases where a de novo variant involving Ile84 (Ile84Ser and Ile84Asn), and reduce the RPS20 protein level in patient cells. Yeast models with mutation of the cognate residue resulted in defects in growth, ribosome biogenesis, and polysome formation. Loss of function may not be the mechanism of disease, because loss of function variants appear to be exclusively associated with familial colorectal cancer without the DBA phenotype.
Sources: Literature
Diamond Blackfan anaemia v0.34 RPS20 Bryony Thompson Marked gene: RPS20 as ready
Diamond Blackfan anaemia v0.34 RPS20 Bryony Thompson Gene: rps20 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.34 RPS20 Bryony Thompson Classified gene: RPS20 as Amber List (moderate evidence)
Diamond Blackfan anaemia v0.34 RPS20 Bryony Thompson Gene: rps20 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.33 RPS20 Bryony Thompson gene: RPS20 was added
gene: RPS20 was added to Diamond Blackfan anaemia. Sources: Literature
Mode of inheritance for gene: RPS20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS20 were set to 32790018
Phenotypes for gene: RPS20 were set to Diamond Blackfan anaemia
Mode of pathogenicity for gene: RPS20 was set to Other
Review for gene: RPS20 was set to AMBER
Added comment: Two unrelated cases where a de novo variant involving Ile84 (Ile84Ser and Ile84Asn), and reduce the RPS20 protein level in patient cells. Yeast models with mutation of the cognate residue resulted in defects in growth, ribosome biogenesis, and polysome formation. Loss of function may not be the mechanism of disease, because loss of function variants appear to be exclusively associated with familial colorectal cancer without the DBA phenotype.
Sources: Literature
Deafness_Isolated v0.18 LMX1A Bryony Thompson Marked gene: LMX1A as ready
Deafness_Isolated v0.18 LMX1A Bryony Thompson Gene: lmx1a has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.398 LMX1A Bryony Thompson Publications for gene: LMX1A were set to 29754270; 29971487
Deafness_IsolatedAndComplex v0.397 LMX1A Bryony Thompson Classified gene: LMX1A as Green List (high evidence)
Deafness_IsolatedAndComplex v0.397 LMX1A Bryony Thompson Gene: lmx1a has been classified as Green List (High Evidence).
Deafness_Isolated v0.18 LMX1A Bryony Thompson Classified gene: LMX1A as Green List (high evidence)
Deafness_Isolated v0.18 LMX1A Bryony Thompson Gene: lmx1a has been classified as Green List (High Evidence).
Deafness_Isolated v0.17 LMX1A Bryony Thompson reviewed gene: LMX1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29754270, 32840933, 29971487; Phenotypes: Deafness, autosomal dominant 7 MIM#601412, non-syndromic hearing loss; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.396 LMX1A Bryony Thompson reviewed gene: LMX1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29754270, 32840933, 29971487; Phenotypes: Deafness, autosomal dominant 7 MIM#601412, non-syndromic hearing loss; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.396 ACTG1 Zornitza Stark Mode of pathogenicity for gene: ACTG1 was changed from to Other
Deafness_IsolatedAndComplex v0.395 ACTG1 Zornitza Stark Marked gene: ACTG1 as ready
Deafness_IsolatedAndComplex v0.395 ACTG1 Zornitza Stark Gene: actg1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.395 ACTG1 Zornitza Stark Phenotypes for gene: ACTG1 were changed from to Deafness, autosomal dominant 20/26, MIM# 604717
Deafness_IsolatedAndComplex v0.394 ACTG1 Zornitza Stark Publications for gene: ACTG1 were set to
Deafness_IsolatedAndComplex v0.393 ACTG1 Zornitza Stark Mode of inheritance for gene: ACTG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.392 ACTG1 Zornitza Stark reviewed gene: ACTG1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 13680526, 14684684, 16773128, 19477959, 19497859; Phenotypes: Deafness, autosomal dominant 20/26, MIM# 604717; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4567 ABHD12 Zornitza Stark Publications for gene: ABHD12 were set to
Mendeliome v0.4566 ABHD12 Zornitza Stark reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: None; Publications: 20797687, 24697911; Phenotypes: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.392 ABHD12 Zornitza Stark Marked gene: ABHD12 as ready
Deafness_IsolatedAndComplex v0.392 ABHD12 Zornitza Stark Gene: abhd12 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.392 ABHD12 Zornitza Stark Phenotypes for gene: ABHD12 were changed from to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674
Deafness_IsolatedAndComplex v0.391 ABHD12 Zornitza Stark Publications for gene: ABHD12 were set to
Deafness_IsolatedAndComplex v0.390 ABHD12 Zornitza Stark Mode of inheritance for gene: ABHD12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.389 ABHD12 Zornitza Stark reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: None; Publications: 20797687, 24697911; Phenotypes: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Alagille syndrome v1.0 Zornitza Stark promoted panel to version 1.0
Hereditary Spastic Paraplegia - adult onset v0.41 SPAST Zornitza Stark Marked gene: SPAST as ready
Hereditary Spastic Paraplegia - adult onset v0.41 SPAST Zornitza Stark Gene: spast has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.41 SPAST Zornitza Stark Publications for gene: SPAST were set to
Hereditary Spastic Paraplegia - adult onset v0.40 SPAST Zornitza Stark reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: None; Publications: 30476002, 30006150; Phenotypes: Spastic paraplegia 4, autosomal dominant (MIM#182601); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4566 SPAST Zornitza Stark Marked gene: SPAST as ready
Mendeliome v0.4566 SPAST Zornitza Stark Gene: spast has been classified as Green List (High Evidence).
Mendeliome v0.4566 SPAST Zornitza Stark Phenotypes for gene: SPAST were changed from to Spastic paraplegia 4, autosomal dominant (MIM#182601), AD
Mendeliome v0.4565 SPAST Zornitza Stark Publications for gene: SPAST were set to
Mendeliome v0.4564 SPAST Zornitza Stark Mode of inheritance for gene: SPAST was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4563 TRRAP Zornitza Stark Marked gene: TRRAP as ready
Mendeliome v0.4563 TRRAP Zornitza Stark Gene: trrap has been classified as Green List (High Evidence).
Mendeliome v0.4563 TRRAP Zornitza Stark Publications for gene: TRRAP were set to
Mendeliome v0.4562 TRRAP Zornitza Stark Phenotypes for gene: TRRAP were changed from to Developmental delay with or without dysmorphic facies and autism (MIM#618454)
Mendeliome v0.4561 TRRAP Zornitza Stark Mode of inheritance for gene: TRRAP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disease v0.504 NDUFV2 Zornitza Stark Marked gene: NDUFV2 as ready
Mitochondrial disease v0.504 NDUFV2 Zornitza Stark Gene: ndufv2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.504 NDUFV2 Zornitza Stark Tag deep intronic tag was added to gene: NDUFV2.
Tag founder tag was added to gene: NDUFV2.
Mitochondrial disease v0.504 NDUFV2 Zornitza Stark Mode of inheritance for gene: NDUFV2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.503 NDUFV2 Zornitza Stark Phenotypes for gene: NDUFV2 were changed from to Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229)
Mitochondrial disease v0.502 NDUFV2 Zornitza Stark Publications for gene: NDUFV2 were set to
Mitochondrial disease v0.502 NDUFV2 Zornitza Stark Mode of inheritance for gene: NDUFV2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.501 NDUFV2 Zornitza Stark reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4560 TRRAP Chern Lim reviewed gene: TRRAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 30827496, 31231791; Phenotypes: Developmental delay with or without dysmorphic facies and autism (MIM#618454), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.4560 TRRAP Chern Lim Deleted their review
Mendeliome v0.4560 SPAST Chern Lim reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: None; Publications: 30476002, 30006150; Phenotypes: Spastic paraplegia 4, autosomal dominant (MIM#182601), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.4560 TRRAP Chern Lim reviewed gene: TRRAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 30827496; Phenotypes: Developmental delay with or without dysmorphic facies and autism (MIM#618454), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Additional findings_Paediatric v0.47 BSCL2 Zornitza Stark Marked gene: BSCL2 as ready
Additional findings_Paediatric v0.47 BSCL2 Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.47 BSCL2 Zornitza Stark Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome; Berardinelli-Seip lipodystrophy to Berardinelli-Seip lipodystrophy; Lipodystrophy, congenital generalized, type 2, MIM# 269700
Additional findings_Paediatric v0.46 BSCL2 Zornitza Stark Mode of inheritance for gene: BSCL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.45 BSCL2 Zornitza Stark Classified gene: BSCL2 as Green List (high evidence)
Additional findings_Paediatric v0.45 BSCL2 Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.44 BSCL2 Zornitza Stark reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipodystrophy, congenital generalized, type 2, MIM# 269700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.44 PALB2 Zornitza Stark Marked gene: PALB2 as ready
Additional findings_Paediatric v0.44 PALB2 Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.44 PALB2 Zornitza Stark Phenotypes for gene: PALB2 were changed from Breast cancer to Fanconi anemia, complementation group N, MIM# 610832
Additional findings_Paediatric v0.43 PALB2 Zornitza Stark Publications for gene: PALB2 were set to
Additional findings_Paediatric v0.42 PALB2 Zornitza Stark Mode of inheritance for gene: PALB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.41 PALB2 Zornitza Stark Classified gene: PALB2 as Green List (high evidence)
Additional findings_Paediatric v0.41 PALB2 Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.40 P2RY12 Zornitza Stark Marked gene: P2RY12 as ready
Additional findings_Paediatric v0.40 P2RY12 Zornitza Stark Gene: p2ry12 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.40 P2RY12 Zornitza Stark Classified gene: P2RY12 as Green List (high evidence)
Additional findings_Paediatric v0.40 P2RY12 Zornitza Stark Gene: p2ry12 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.39 PDX1 Zornitza Stark Marked gene: PDX1 as ready
Additional findings_Paediatric v0.39 PDX1 Zornitza Stark Gene: pdx1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.39 PDX1 Zornitza Stark Classified gene: PDX1 as Green List (high evidence)
Additional findings_Paediatric v0.39 PDX1 Zornitza Stark Gene: pdx1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.38 PIK3CD Zornitza Stark Marked gene: PIK3CD as ready
Additional findings_Paediatric v0.38 PIK3CD Zornitza Stark Gene: pik3cd has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.38 PIK3CD Zornitza Stark Classified gene: PIK3CD as Green List (high evidence)
Additional findings_Paediatric v0.38 PIK3CD Zornitza Stark Gene: pik3cd has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.37 PTPRC Zornitza Stark Marked gene: PTPRC as ready
Additional findings_Paediatric v0.37 PTPRC Zornitza Stark Gene: ptprc has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.37 PTPRC Zornitza Stark Classified gene: PTPRC as Green List (high evidence)
Additional findings_Paediatric v0.37 PTPRC Zornitza Stark Gene: ptprc has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.36 RYR1 Zornitza Stark Marked gene: RYR1 as ready
Additional findings_Paediatric v0.36 RYR1 Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.36 RYR1 Zornitza Stark Phenotypes for gene: RYR1 were changed from Centronuclear myopathy; Congenital fiber type disproportion; Multiminicore disease; Central core disease; Malignant hyperthermia to Malignant hyperthermia, multiminicore disease MIM#180901
Additional findings_Paediatric v0.35 RYR1 Zornitza Stark Mode of inheritance for gene: RYR1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.34 RYR1 Zornitza Stark Classified gene: RYR1 as Green List (high evidence)
Additional findings_Paediatric v0.34 RYR1 Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.33 SCNN1B Zornitza Stark Marked gene: SCNN1B as ready
Additional findings_Paediatric v0.33 SCNN1B Zornitza Stark Gene: scnn1b has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.33 SCNN1B Zornitza Stark Phenotypes for gene: SCNN1B were changed from Pseudohypoaldosteronism; Liddle syndrome to Pseudohypoaldosteronism, type I MIM# 264350
Additional findings_Paediatric v0.32 PALB2 Lilian Downie reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17200671; Phenotypes: Fanconi anemia, complementation group N MIM# 610832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.32 SCNN1B Zornitza Stark Mode of inheritance for gene: SCNN1B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.31 SCNN1B Zornitza Stark Classified gene: SCNN1B as Green List (high evidence)
Additional findings_Paediatric v0.31 SCNN1B Zornitza Stark Gene: scnn1b has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.30 SERPINA1 Zornitza Stark Marked gene: SERPINA1 as ready
Additional findings_Paediatric v0.30 SERPINA1 Zornitza Stark Gene: serpina1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.30 SERPINA1 Zornitza Stark Phenotypes for gene: SERPINA1 were changed from Antitrypsin alpha 1 deficiency to Antitrypsin alpha 1 deficiency; Emphysema due to AAT deficiency, OMIM #107400
Additional findings_Paediatric v0.29 SERPINA1 Zornitza Stark Classified gene: SERPINA1 as Green List (high evidence)
Additional findings_Paediatric v0.29 SERPINA1 Zornitza Stark Gene: serpina1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.28 SFTPC Zornitza Stark Marked gene: SFTPC as ready
Additional findings_Paediatric v0.28 SFTPC Zornitza Stark Gene: sftpc has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.28 SFTPC Zornitza Stark Phenotypes for gene: SFTPC were changed from Interstitial lung disease to Surfactant metabolism dysfunction, pulmonary, 2 MIM# 178620; Interstitial lung disease
Additional findings_Paediatric v0.27 SFTPC Zornitza Stark Classified gene: SFTPC as Green List (high evidence)
Additional findings_Paediatric v0.27 SFTPC Zornitza Stark Gene: sftpc has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.26 SGCD Zornitza Stark Marked gene: SGCD as ready
Additional findings_Paediatric v0.26 SGCD Zornitza Stark Gene: sgcd has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.26 SGCD Zornitza Stark Phenotypes for gene: SGCD were changed from Cardiomyopathy, dilated; Muscular dystrophy, limb-girdle, type 2F to Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287
Additional findings_Paediatric v0.25 SGCD Zornitza Stark Classified gene: SGCD as Green List (high evidence)
Additional findings_Paediatric v0.25 SGCD Zornitza Stark Gene: sgcd has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.24 SLC6A19 Zornitza Stark Marked gene: SLC6A19 as ready
Additional findings_Paediatric v0.24 SLC6A19 Zornitza Stark Gene: slc6a19 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.24 SLC6A19 Zornitza Stark Phenotypes for gene: SLC6A19 were changed from Hartnup disorder to Hartnup disorder, MIM # 234500
Additional findings_Paediatric v0.23 SLC6A19 Zornitza Stark Classified gene: SLC6A19 as Green List (high evidence)
Additional findings_Paediatric v0.23 SLC6A19 Zornitza Stark Gene: slc6a19 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.22 PYGM Zornitza Stark Marked gene: PYGM as ready
Additional findings_Paediatric v0.22 PYGM Zornitza Stark Gene: pygm has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.22 PYGM Zornitza Stark Classified gene: PYGM as Green List (high evidence)
Additional findings_Paediatric v0.22 PYGM Zornitza Stark Gene: pygm has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.21 Zornitza Stark removed gene:P2RY1 from the panel
Additional findings_Paediatric v0.20 P2RY12 Lilian Downie gene: P2RY12 was added
gene: P2RY12 was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: P2RY12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: P2RY12 were set to Bleeding disorder, platelet-type, 8 MIM# 609821
Added comment: Characterized by mild to moderate mucocutaneous bleeding and excessive bleeding after surgery or trauma. The defect is due to the inability of ADP to induce platelet aggregation. Onset childhood. Treatable with FFP for procedures. Not reviewed by Babyseq, in the NC NEXUS list.
Sources: Expert list
Sources: Expert list
Additional findings_Paediatric v0.20 P2RY1 Lilian Downie gene: P2RY1 was added
gene: P2RY1 was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: P2RY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: P2RY1 were set to Bleeding disorder, platelet-type, 8, MIM# 609821
Review for gene: P2RY1 was set to GREEN
Added comment: Characterized by mild to moderate mucocutaneous bleeding and excessive bleeding after surgery or trauma. The defect is due to the inability of ADP to induce platelet aggregation. Onset childhood. Treatable with FFP for procedures. Not reviewed by Babyseq, in the NC NEXUS list.
Sources: Expert list
Additional findings_Paediatric v0.20 PDX1 Lilian Downie gene: PDX1 was added
gene: PDX1 was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDX1 were set to Pancreatic agenesis, MIM# # 260370
Review for gene: PDX1 was set to GREEN
Added comment: Neonatal onset IDDM, treatable. Not evaluated by Babyseq, included in NC NEXUS.
Sources: Expert list
Additional findings_Paediatric v0.20 PIK3CD Lilian Downie gene: PIK3CD was added
gene: PIK3CD was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: PIK3CD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIK3CD were set to Immunodeficiency 14, MIM # 615513
Review for gene: PIK3CD was set to GREEN
Added comment: Primary immunodeficiency, characterized by onset of recurrent sinopulmonary and other infections in early childhood. Laboratory studies show defects in both B- and T-cell populations, with an inability to control infection with Epstein Barr-virus (EBV) and cytomegalovirus (CMV). Patient CD8+ T cells are skewed toward differentiation and senescence. Many patients develop lymphadenopathy, mucosal lymphoid aggregates, and/or increased serum IgM. There is also an increased susceptibility to B-cell lymphomas .
Not reviewed by Babyseq, included in NCNEXUS list. Treatable
Sources: Expert list
Additional findings_Paediatric v0.20 PTPRC Lilian Downie gene: PTPRC was added
gene: PTPRC was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: PTPRC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTPRC were set to Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 151460
Review for gene: PTPRC was set to GREEN
Added comment: Not reviewed by Babyseq, paediatric onset disease that is actionable with BMT (included in NCNEXUS list).
Sources: Expert list
Additional findings_Paediatric v0.20 PYGM Lilian Downie gene: PYGM was added
gene: PYGM was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYGM were set to McCardle disease MIM# 608455
Review for gene: PYGM was set to GREEN
Added comment: McCardle disease: glycogen storage disease type V (GSD5), characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence. Transient myoglobinuria may occur after exercise, due to rhabdomyolysis. Severe myoglobinuria may lead to acute renal failure. Patients may report muscle weakness, myalgia, and lack of endurance since childhood or adolescence. Later in adult life, there is persistent and progressive muscle weakness and atrophy with fatty replacement. McArdle disease is a relatively benign disorder, except for possible renal failure as a complication of myoglobinuria
Not reviewed by Babyseq, included in NCNEXUS newborn screening list.
Actionable by controlled physical activity and programmed glucose intake.
Sources: Expert list
Additional findings_Paediatric v0.20 RYR1 Lilian Downie reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: malignant hyperthermia, multiminicore disease MIM#180901; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.20 SCNN1B Lilian Downie reviewed gene: SCNN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoaldosteronism, type I MIM# 264350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.20 SERPINA1 Lilian Downie reviewed gene: SERPINA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Emphysema due to AAT deficiency, OMIM #107400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.20 SFTPC Lilian Downie reviewed gene: SFTPC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 2 MIM# 178620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.20 SGCD Lilian Downie reviewed gene: SGCD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.20 SLC6A19 Lilian Downie reviewed gene: SLC6A19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hartnup disorder MIM # 234500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.20 BRAF Zornitza Stark Marked gene: BRAF as ready
Additional findings_Paediatric v0.20 BRAF Zornitza Stark Gene: braf has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.20 BRAF Zornitza Stark Phenotypes for gene: BRAF were changed from LEOPARD syndrome; Cardiofaciocutaneous syndrome to Noonan syndrome 7, MIM# 613706; Cardiofaciocutaneous syndrome, MIM# 115150
Additional findings_Paediatric v0.19 BRAF Zornitza Stark Classified gene: BRAF as Green List (high evidence)
Additional findings_Paediatric v0.19 BRAF Zornitza Stark Gene: braf has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.18 BRAF Zornitza Stark reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 7, MIM# 613706, Cardiofaciocutaneous syndrome, MIM# 115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.18 BMPR1A Zornitza Stark Marked gene: BMPR1A as ready
Additional findings_Paediatric v0.18 BMPR1A Zornitza Stark Gene: bmpr1a has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.18 BMPR1A Zornitza Stark Phenotypes for gene: BMPR1A were changed from Tetralogy of Fallot; Juvenile polyposis syndrome to Polyposis, juvenile intestinal, MIM# 174900
Additional findings_Paediatric v0.17 BMPR1A Zornitza Stark Classified gene: BMPR1A as Green List (high evidence)
Additional findings_Paediatric v0.17 BMPR1A Zornitza Stark Gene: bmpr1a has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.16 BMPR1A Zornitza Stark reviewed gene: BMPR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polyposis, juvenile intestinal, MIM# 174900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.16 BCHE Zornitza Stark Marked gene: BCHE as ready
Additional findings_Paediatric v0.16 BCHE Zornitza Stark Gene: bche has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.16 BCHE Zornitza Stark Classified gene: BCHE as Green List (high evidence)
Additional findings_Paediatric v0.16 BCHE Zornitza Stark Gene: bche has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.15 BCHE Zornitza Stark gene: BCHE was added
gene: BCHE was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: BCHE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCHE were set to Butyrylcholinesterase deficiency, MIM# 617936
Review for gene: BCHE was set to GREEN
Added comment: Individuals deficient in butyrylcholinesterase (BCHE) appear asymptomatic, apart from a heightened sensitivity to muscle relaxants such as suxamethonium (succinylcholine) and mivacurium, 2 BCHE carboxylester substrates. In individuals with usual BCHE levels, these drugs are rapidly hydrolyzed in plasma and their duration of action is short (less than 10 minutes). BCHE deficiency results in slower hydrolysis of these drugs and, consequently, a prolonged neuromuscular block, leading to apnea. Prolonged neuromuscular block occurs with BCHE deficiencies of marked severity (impairment over 70%).
Sources: Expert list
Additional findings_Paediatric v0.14 ATP7A Zornitza Stark Marked gene: ATP7A as ready
Additional findings_Paediatric v0.14 ATP7A Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.14 ATP7A Zornitza Stark Phenotypes for gene: ATP7A were changed from Occipital horn syndrome; Spinal muscular atrophy, distal, X-linked 3; Menkes syndrome to Menkes disease, MIM# 309400
Additional findings_Paediatric v0.13 ATP7A Zornitza Stark Classified gene: ATP7A as Green List (high evidence)
Additional findings_Paediatric v0.13 ATP7A Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.12 ATP7A Zornitza Stark reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Menkes disease, MIM# 309400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Additional findings_Paediatric v0.12 AR Zornitza Stark edited their review of gene: AR: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Additional findings_Paediatric v0.12 AR Zornitza Stark Marked gene: AR as ready
Additional findings_Paediatric v0.12 AR Zornitza Stark Gene: ar has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.12 AR Zornitza Stark Phenotypes for gene: AR were changed from Spinal and bulbar muscular atrophy of Kennedy; Androgen insensitivity to Androgen insensitivity, MIM# 300068
Additional findings_Paediatric v0.11 AR Zornitza Stark Classified gene: AR as Green List (high evidence)
Additional findings_Paediatric v0.11 AR Zornitza Stark Gene: ar has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.10 AR Zornitza Stark reviewed gene: AR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Androgen insensitivity, MIM# 300068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.10 APRT Zornitza Stark Marked gene: APRT as ready
Additional findings_Paediatric v0.10 APRT Zornitza Stark Gene: aprt has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.10 APRT Zornitza Stark Phenotypes for gene: APRT were changed from Adenine phosphoribosyltransferase deficiency to Adenine phosphoribosyltransferase deficiency, MIM# 614723
Additional findings_Paediatric v0.9 APRT Zornitza Stark Classified gene: APRT as Green List (high evidence)
Additional findings_Paediatric v0.9 APRT Zornitza Stark Gene: aprt has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.8 APRT Zornitza Stark reviewed gene: APRT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenine phosphoribosyltransferase deficiency, MIM# 614723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.8 ALDH7A1 Zornitza Stark Marked gene: ALDH7A1 as ready
Additional findings_Paediatric v0.8 ALDH7A1 Zornitza Stark Gene: aldh7a1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.8 ALDH7A1 Zornitza Stark Classified gene: ALDH7A1 as Green List (high evidence)
Additional findings_Paediatric v0.8 ALDH7A1 Zornitza Stark Gene: aldh7a1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.7 ALDH7A1 Zornitza Stark gene: ALDH7A1 was added
gene: ALDH7A1 was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent, MIM# 266100
Review for gene: ALDH7A1 was set to GREEN
Added comment: Highly penetrant childhood-onset disorder, well established gene-disease association. Treatable.
Sources: Expert list
Additional findings_Paediatric v0.6 ACADS Zornitza Stark Marked gene: ACADS as ready
Additional findings_Paediatric v0.6 ACADS Zornitza Stark Gene: acads has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.6 ACADS Zornitza Stark Classified gene: ACADS as Green List (high evidence)
Additional findings_Paediatric v0.6 ACADS Zornitza Stark Gene: acads has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.5 ACADS Zornitza Stark reviewed gene: ACADS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of 201470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.5 ABCC2 Zornitza Stark Marked gene: ABCC2 as ready
Additional findings_Paediatric v0.5 ABCC2 Zornitza Stark Gene: abcc2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.5 ABCC2 Zornitza Stark Phenotypes for gene: ABCC2 were changed from Dubin-Johnson syndrome to Dubin-Johnson syndrome, MIM# 237500
Additional findings_Paediatric v0.4 ABCC2 Zornitza Stark Publications for gene: ABCC2 were set to
Additional findings_Paediatric v0.3 ABCC2 Zornitza Stark Classified gene: ABCC2 as Green List (high evidence)
Additional findings_Paediatric v0.3 ABCC2 Zornitza Stark Gene: abcc2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.2 ABCC2 Zornitza Stark reviewed gene: ABCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30344695, 11477083; Phenotypes: Dubin-Johnson syndrome, MIM# 237500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4560 UPF3B Zornitza Stark Marked gene: UPF3B as ready
Mendeliome v0.4560 UPF3B Zornitza Stark Gene: upf3b has been classified as Green List (High Evidence).
Mendeliome v0.4560 UPF3B Zornitza Stark Phenotypes for gene: UPF3B were changed from to Mental retardation, X-linked, syndromic 14, MIM# 300676
Mendeliome v0.4559 UPF3B Zornitza Stark Publications for gene: UPF3B were set to
Mendeliome v0.4558 UPF3B Zornitza Stark Mode of inheritance for gene: UPF3B was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.4557 UPF3B Zornitza Stark reviewed gene: UPF3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 19377476, 17704778, 31737052, 28948974, 32667670; Phenotypes: Mental retardation, X-linked, syndromic 14, MIM# 300676; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.3025 UPF3B Zornitza Stark Marked gene: UPF3B as ready
Intellectual disability syndromic and non-syndromic v0.3025 UPF3B Zornitza Stark Gene: upf3b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3025 UPF3B Zornitza Stark Phenotypes for gene: UPF3B were changed from to Mental retardation, X-linked, syndromic 14, MIM# 300676
Intellectual disability syndromic and non-syndromic v0.3024 UPF3B Zornitza Stark Publications for gene: UPF3B were set to
Intellectual disability syndromic and non-syndromic v0.3023 UPF3B Zornitza Stark Mode of inheritance for gene: UPF3B was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.3022 UPF3B Zornitza Stark reviewed gene: UPF3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 19377476, 17704778, 31737052, 28948974; Phenotypes: Mental retardation, X-linked, syndromic 14, MIM# 300676; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Renal Ciliopathies and Nephronophthisis v0.116 NPHP1 Zornitza Stark Marked gene: NPHP1 as ready
Renal Ciliopathies and Nephronophthisis v0.116 NPHP1 Zornitza Stark Gene: nphp1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.116 NPHP1 Zornitza Stark Phenotypes for gene: NPHP1 were changed from to Nephronophthisis 1, juvenile, MIM# 256100
Renal Ciliopathies and Nephronophthisis v0.115 NPHP1 Zornitza Stark Publications for gene: NPHP1 were set to
Renal Ciliopathies and Nephronophthisis v0.114 NPHP1 Zornitza Stark Mode of inheritance for gene: NPHP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.113 NPHP1 Zornitza Stark Tag SV/CNV tag was added to gene: NPHP1.
Renal Ciliopathies and Nephronophthisis v0.113 NPHP1 Zornitza Stark reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23559409; Phenotypes: Nephronophthisis 1, juvenile, MIM# 256100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4557 C1orf194 Arina Puzriakova changed review comment from: PMID: 32592472 (2020) - Another knockout mouse model by same research group, demonstrating defects in motor and sensory functions, myelination abnormalities, peripheral nerve loss and muscle atrophy.; to: PMID: 32592472 (2020) - An additional knockout mouse model by same research group, demonstrating defects in motor and sensory functions, myelination abnormalities, peripheral nerve loss and muscle atrophy.
Mendeliome v0.4557 C1orf194 Arina Puzriakova reviewed gene: C1orf194: Rating: ; Mode of pathogenicity: None; Publications: 32592472; Phenotypes: Charcot-Marie-Tooth; Mode of inheritance: None
Mendeliome v0.4557 MECP2 Arina Puzriakova reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32469049; Phenotypes: Rett syndrome, 312750; Mode of inheritance: 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 v0.3022 UPF3B Arina Puzriakova reviewed gene: UPF3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 32667670; Phenotypes: Mental retardation, X-linked, syndromic 14, 300676; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.4557 XPR1 Zornitza Stark Marked gene: XPR1 as ready
Mendeliome v0.4557 XPR1 Zornitza Stark Gene: xpr1 has been classified as Green List (High Evidence).
Mendeliome v0.4557 XPR1 Zornitza Stark Phenotypes for gene: XPR1 were changed from to Basal ganglia calcification, idiopathic, 6, MIM# 616413
Mendeliome v0.4556 XPR1 Zornitza Stark Publications for gene: XPR1 were set to
Mendeliome v0.4555 XPR1 Zornitza Stark Mode of inheritance for gene: XPR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4554 XPR1 Zornitza Stark reviewed gene: XPR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25938945; Phenotypes: Basal ganglia calcification, idiopathic, 6, MIM# 616413; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Calcification v0.44 XPR1 Zornitza Stark Marked gene: XPR1 as ready
Brain Calcification v0.44 XPR1 Zornitza Stark Gene: xpr1 has been classified as Green List (High Evidence).
Brain Calcification v0.44 XPR1 Zornitza Stark Phenotypes for gene: XPR1 were changed from to Basal ganglia calcification, idiopathic, 6, MIM# 616413
Brain Calcification v0.43 XPR1 Zornitza Stark Publications for gene: XPR1 were set to
Brain Calcification v0.42 XPR1 Zornitza Stark Mode of inheritance for gene: XPR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Calcification v0.41 XPR1 Zornitza Stark reviewed gene: XPR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25938945; Phenotypes: Basal ganglia calcification, idiopathic, 6, MIM# 616413; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.84 XPR1 Zornitza Stark Marked gene: XPR1 as ready
Early-onset Parkinson disease v0.84 XPR1 Zornitza Stark Gene: xpr1 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.84 XPR1 Zornitza Stark Phenotypes for gene: XPR1 were changed from to Basal ganglia calcification, idiopathic, 6, MIM# 616413
Early-onset Parkinson disease v0.83 XPR1 Zornitza Stark Publications for gene: XPR1 were set to
Early-onset Parkinson disease v0.82 XPR1 Zornitza Stark Mode of inheritance for gene: XPR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.81 XPR1 Zornitza Stark reviewed gene: XPR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25938945; Phenotypes: Basal ganglia calcification, idiopathic, 6, MIM# 616413; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4554 VPS13C Zornitza Stark Marked gene: VPS13C as ready
Mendeliome v0.4554 VPS13C Zornitza Stark Gene: vps13c has been classified as Green List (High Evidence).
Mendeliome v0.4554 VPS13C Zornitza Stark Phenotypes for gene: VPS13C were changed from to Early-onset Parkinson disease-23, MIM# 616840
Mendeliome v0.4553 VPS13C Zornitza Stark Publications for gene: VPS13C were set to
Mendeliome v0.4552 VPS13C Zornitza Stark Mode of inheritance for gene: VPS13C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4551 VPS13C Zornitza Stark reviewed gene: VPS13C: Rating: GREEN; Mode of pathogenicity: None; Publications: 26942284 30452786 28862745; Phenotypes: Early-onset Parkinson disease-23, MIM# 616840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.81 TWNK Zornitza Stark Publications for gene: TWNK were set to
Early-onset Parkinson disease v0.80 TWNK Zornitza Stark Phenotypes for gene: TWNK were changed from to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286
Early-onset Parkinson disease v0.79 TAF1 Zornitza Stark Marked gene: TAF1 as ready
Early-onset Parkinson disease v0.79 TAF1 Zornitza Stark Gene: taf1 has been classified as Amber List (Moderate Evidence).
Early-onset Parkinson disease v0.79 TAF1 Zornitza Stark Phenotypes for gene: TAF1 were changed from to Dystonia-Parkinsonism, X-linked, MIM# 314250
Early-onset Parkinson disease v0.78 TAF1 Zornitza Stark Publications for gene: TAF1 were set to
Early-onset Parkinson disease v0.77 TAF1 Zornitza Stark Mode of inheritance for gene: TAF1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early-onset Parkinson disease v0.76 TAF1 Zornitza Stark Classified gene: TAF1 as Amber List (moderate evidence)
Early-onset Parkinson disease v0.76 TAF1 Zornitza Stark Gene: taf1 has been classified as Amber List (Moderate Evidence).
Early-onset Parkinson disease v0.75 TAF1 Zornitza Stark Tag deep intronic tag was added to gene: TAF1.
Tag founder tag was added to gene: TAF1.
Early-onset Parkinson disease v0.75 TAF1 Zornitza Stark reviewed gene: TAF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 17273961; Phenotypes: Dystonia-Parkinsonism, X-linked, MIM# 314250; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.4551 KIAA1161 Zornitza Stark Phenotypes for gene: KIAA1161 were changed from Basal ganglia calcification, idiopathic, 7, autosomal recessive; OMIM #618317; primary familial brain calcifications (PFBC); ataxia; dysarthria; cerebellar atrophy; akinetic-hypertonic syndrome to Basal ganglia calcification, idiopathic, 7, MIM #618317; primary familial brain calcifications (PFBC); ataxia; dysarthria; cerebellar atrophy; akinetic-hypertonic syndrome
Mendeliome v0.4550 KIAA1161 Zornitza Stark Publications for gene: KIAA1161 were set to 30656188; 30649222; 30460687; 29910000; 31009047
Mendeliome v0.4549 KIAA1161 Zornitza Stark Mode of inheritance for gene: KIAA1161 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.4548 KIAA1161 Zornitza Stark Tag new gene name tag was added to gene: KIAA1161.
Mendeliome v0.4548 KIAA1161 Zornitza Stark edited their review of gene: KIAA1161: Added comment: In a cohort study comprising 435 individuals with primary brain calcification, 38 individuals identified with mono-allelic variants in this gene, in addition to 14 with bi-allelic variants. Clinical and imaging penetrance of individuals with bi-allelic variants were 100%, whereas among individuals with heterozygous variants, penetrance of imaging phenotype was reduced to 73.7% (28 of 38) and clinical penetrance was much lower. Most (34 of 38) remained asymptomatic whereas 4 had symptoms of uncertain clinical significance (nonspecific depression, epilepsy and late-onset parkinsonism). Compared with individuals with biallelic MYORG variants, individuals with heterozygous variants had brain calcifications with much lower calcification scores (P < 2e-16). HGNC approved name is MYORG.; Changed publications: 30656188, 30649222, 30460687, 29910000, 31951047; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Brain Calcification v0.41 KIAA1161 Zornitza Stark Phenotypes for gene: KIAA1161 were changed from Basal ganglia calcification, idiopathic, 7, autosomal recessive; OMIM #618317 to Basal ganglia calcification, idiopathic, 7, MIM#618317
Brain Calcification v0.40 KIAA1161 Zornitza Stark Publications for gene: KIAA1161 were set to PubMed: 30656188, 30649222, 30460687, 29910000
Brain Calcification v0.39 KIAA1161 Zornitza Stark Mode of inheritance for gene: KIAA1161 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Brain Calcification v0.38 KIAA1161 Zornitza Stark Tag new gene name tag was added to gene: KIAA1161.
Brain Calcification v0.38 KIAA1161 Zornitza Stark changed review comment from: In a cohort study comprising 435 individuals with primary brain calcification, 38 individuals identified with mono-allelic variants in this gene, in addition to 14 with bi-allelic variants. Clinical and imaging penetrance of individuals with bi-allelic variants were 100%, whereas among individuals with heterozygous variants, penetrance of imaging phenotype was reduced to 73.7% (28 of 38) and clinical penetrance was much lower. Most (34 of 38) remained asymptomatic whereas 4 had symptoms of uncertain clinical significance (nonspecific depression, epilepsy and late-onset parkinsonism). Compared with individuals with biallelic MYORG variants, individuals with heterozygous variants had brain calcifications with much lower calcification scores (P < 2e-16).; to: In a cohort study comprising 435 individuals with primary brain calcification, 38 individuals identified with mono-allelic variants in this gene, in addition to 14 with bi-allelic variants. Clinical and imaging penetrance of individuals with bi-allelic variants were 100%, whereas among individuals with heterozygous variants, penetrance of imaging phenotype was reduced to 73.7% (28 of 38) and clinical penetrance was much lower. Most (34 of 38) remained asymptomatic whereas 4 had symptoms of uncertain clinical significance (nonspecific depression, epilepsy and late-onset parkinsonism). Compared with individuals with biallelic MYORG variants, individuals with heterozygous variants had brain calcifications with much lower calcification scores (P < 2e-16).

HGNC approved name is MYORG.
Brain Calcification v0.38 KIAA1161 Zornitza Stark reviewed gene: KIAA1161: Rating: GREEN; Mode of pathogenicity: None; Publications: 31951047; Phenotypes: Basal ganglia calcification, idiopathic, 7, MIM#618317; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.75 PDGFRB Zornitza Stark Marked gene: PDGFRB as ready
Early-onset Parkinson disease v0.75 PDGFRB Zornitza Stark Gene: pdgfrb has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.75 PDGFRB Zornitza Stark Phenotypes for gene: PDGFRB were changed from to Basal ganglia calcification, idiopathic, 4, MIM# 615007
Early-onset Parkinson disease v0.74 PDGFRB Zornitza Stark Publications for gene: PDGFRB were set to
Early-onset Parkinson disease v0.73 PDGFRB Zornitza Stark Mode of inheritance for gene: PDGFRB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.72 PDGFRB Zornitza Stark reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23255827, 30979360; Phenotypes: Basal ganglia calcification, idiopathic, 4 615007; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.72 PDGFB Zornitza Stark Marked gene: PDGFB as ready
Early-onset Parkinson disease v0.72 PDGFB Zornitza Stark Gene: pdgfb has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.72 PDGFB Zornitza Stark Phenotypes for gene: PDGFB were changed from to Basal ganglia calcification, idiopathic, 5, MIM# 615483
Early-onset Parkinson disease v0.71 PDGFB Zornitza Stark Publications for gene: PDGFB were set to
Early-onset Parkinson disease v0.70 PDGFB Zornitza Stark Mode of inheritance for gene: PDGFB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.69 PDGFB Zornitza Stark reviewed gene: PDGFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23913003; Phenotypes: Basal ganglia calcification, idiopathic, 5, MIM# 615483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.69 MECP2 Zornitza Stark Marked gene: MECP2 as ready
Early-onset Parkinson disease v0.69 MECP2 Zornitza Stark Gene: mecp2 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.69 MECP2 Zornitza Stark Phenotypes for gene: MECP2 were changed from to MECP2-related disorders; Rett syndrome, MIM# 312750; Mental retardation, X-linked, syndromic 13, MIM# 300055
Early-onset Parkinson disease v0.68 MECP2 Zornitza Stark Publications for gene: MECP2 were set to
Early-onset Parkinson disease v0.67 MECP2 Zornitza Stark Mode of inheritance for gene: MECP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early-onset Parkinson disease v0.66 MECP2 Zornitza Stark reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31970230, 27050783; Phenotypes: MECP2-related disorders, Rett syndrome, MIM# 312750, Mental retardation, X-linked, syndromic 13, MIM# 300055; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early-onset Parkinson disease v0.66 GRN Zornitza Stark Phenotypes for gene: GRN were changed from to Frontotemporal lobar degeneration with ubiquitin-positive inclusions, MIM# 607485
Early-onset Parkinson disease v0.65 GRN Zornitza Stark Publications for gene: GRN were set to
Early-onset Parkinson disease v0.64 GRN Zornitza Stark Mode of inheritance for gene: GRN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.63 GRN Zornitza Stark reviewed gene: GRN: Rating: GREEN; Mode of pathogenicity: None; Publications: 17923627, 20301545; Phenotypes: Frontotemporal lobar degeneration with ubiquitin-positive inclusions, MIM# 607485; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4548 ALG14 Zornitza Stark Marked gene: ALG14 as ready
Mendeliome v0.4548 ALG14 Zornitza Stark Gene: alg14 has been classified as Green List (High Evidence).
Mendeliome v0.4548 ALG14 Zornitza Stark Phenotypes for gene: ALG14 were changed from to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Disorder of N-glycosylation
Mendeliome v0.4547 ALG14 Zornitza Stark Publications for gene: ALG14 were set to
Mendeliome v0.4546 ALG14 Zornitza Stark Mode of inheritance for gene: ALG14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4545 ALG14 Zornitza Stark reviewed gene: ALG14: Rating: GREEN; Mode of pathogenicity: None; Publications: 30221345, 23404334, 28733338; Phenotypes: Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031, Disorder of N-glycosylation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.164 ALG14 Zornitza Stark Phenotypes for gene: ALG14 were changed from Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual disability; Disorder of N-glycosylation to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Disorder of N-glycosylation
Congenital Disorders of Glycosylation v0.163 ALG14 Zornitza Stark edited their review of gene: ALG14: Changed phenotypes: Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031, Disorder of N-glycosylation
Intellectual disability syndromic and non-syndromic v0.3022 ALG14 Zornitza Stark Phenotypes for gene: ALG14 were changed from Myasthenic syndrome, congenital, 15, without tubular aggregates, MIM#616227; Intellectual disability to Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031
Intellectual disability syndromic and non-syndromic v0.3021 ALG14 Zornitza Stark edited their review of gene: ALG14: Changed phenotypes: intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031
Common Variable Immunodeficiency v0.96 PTEN Zornitza Stark Publications for gene: PTEN were set to 27531073; 27426521; 32588888
Common Variable Immunodeficiency v0.95 PTEN Zornitza Stark Phenotypes for gene: PTEN were changed from Macrocephaly/autism syndrome MIM#605309; Cowden syndrome 1 MIM#158350 to Macrocephaly/autism syndrome MIM#605309; Cowden syndrome 1 MIM#158350; Skewed immune repertoire composition
Common Variable Immunodeficiency v0.95 PTEN Zornitza Stark Publications for gene: PTEN were set to 27531073; 27426521
Common Variable Immunodeficiency v0.94 PTEN Zornitza Stark reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: 32588888; Phenotypes: Skewed immune repertoire composition; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.150 TCF12 Zornitza Stark Marked gene: TCF12 as ready
Craniosynostosis v0.150 TCF12 Zornitza Stark Gene: tcf12 has been classified as Green List (High Evidence).
Craniosynostosis v0.150 TCF12 Zornitza Stark Phenotypes for gene: TCF12 were changed from to Craniosynostosis 3, MIM# 615314
Craniosynostosis v0.149 TCF12 Zornitza Stark Publications for gene: TCF12 were set to
Craniosynostosis v0.148 TCF12 Zornitza Stark Mode of inheritance for gene: TCF12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.147 TCF12 Zornitza Stark reviewed gene: TCF12: Rating: GREEN; Mode of pathogenicity: None; Publications: 23354436; Phenotypes: Craniosynostosis 3, MIM# 615314; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4545 TCF12 Zornitza Stark Marked gene: TCF12 as ready
Mendeliome v0.4545 TCF12 Zornitza Stark Gene: tcf12 has been classified as Green List (High Evidence).
Mendeliome v0.4545 TCF12 Zornitza Stark Phenotypes for gene: TCF12 were changed from to Craniosynostosis 3, MIM# 615314; Kallman syndrome
Mendeliome v0.4544 TCF12 Zornitza Stark Publications for gene: TCF12 were set to
Mendeliome v0.4543 TCF12 Zornitza Stark Mode of inheritance for gene: TCF12 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.4542 TCF12 Zornitza Stark reviewed gene: TCF12: Rating: GREEN; Mode of pathogenicity: None; Publications: 23354436, 32620954; Phenotypes: Craniosynostosis 3, MIM# 615314, Kallman syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Differences of Sex Development v0.169 TCF12 Zornitza Stark Marked gene: TCF12 as ready
Differences of Sex Development v0.169 TCF12 Zornitza Stark Gene: tcf12 has been classified as Green List (High Evidence).
Differences of Sex Development v0.169 TCF12 Zornitza Stark Classified gene: TCF12 as Green List (high evidence)
Differences of Sex Development v0.169 TCF12 Zornitza Stark Gene: tcf12 has been classified as Green List (High Evidence).
Differences of Sex Development v0.168 TCF12 Zornitza Stark gene: TCF12 was added
gene: TCF12 was added to Disorders of Sex Differentiation. Sources: Literature
Mode of inheritance for gene: TCF12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TCF12 were set to 32620954
Phenotypes for gene: TCF12 were set to Kallmann syndrome
Review for gene: TCF12 was set to GREEN
Added comment: Note monoallelic variants in this gene are a well-established cause of craniosynostosis.
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- PMID: 32620954 (2020) - 13 unrelated kindreds (11 de novo, 1 AD and 1 AR) comprising 14 affected individuals with an anosmic form of isolated GnRH deficiency (IGD) (Kallman syndrome) due to different LoF variants in TCF12.

Clinical manifestation included anosmia and pubertal failure (with reproductive phenotypes such as micropenis, bilateral cryptorchidism, hypospadias). Two unrelated individuals within the cohort additionally exhibited craniosynostosis, and a further two pedigrees had a family history of craniosynostosis (that did not affect the index case). Multiplex cases typically presented incomplete penetrance.

Loss of tcf12 in a mutant zebrafish model perturbed GnRH neuronal patterning, with concomitant expression attenuation of tcf3a/b and stub1 (latter mutated in other syndromic forms of IGD). Furthermore, restored STUB1 expression rescued loss of tcf12 in vivo.

Green for mono-allelic variants, caution with bi-allelic variants.
Sources: Literature
Incidentalome v0.35 PTEN Arina Puzriakova reviewed gene: PTEN: Rating: ; Mode of pathogenicity: None; Publications: 32588888; Phenotypes: Skewed immune repertoire composition; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.4542 TCF12 Arina Puzriakova reviewed gene: TCF12: Rating: AMBER; Mode of pathogenicity: None; Publications: 32620954; Phenotypes: Kallmann syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.63 GCH1 Zornitza Stark Marked gene: GCH1 as ready
Early-onset Parkinson disease v0.63 GCH1 Zornitza Stark Gene: gch1 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.63 GCH1 Zornitza Stark Phenotypes for gene: GCH1 were changed from to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230
Early-onset Parkinson disease v0.62 GCH1 Zornitza Stark Publications for gene: GCH1 were set to
Early-onset Parkinson disease v0.61 GCH1 Zornitza Stark Mode of inheritance for gene: GCH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.60 GCH1 Zornitza Stark reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32170445, 32278297, 32746945, 30314816; Phenotypes: Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.60 DNAJC5 Zornitza Stark Marked gene: DNAJC5 as ready
Early-onset Parkinson disease v0.60 DNAJC5 Zornitza Stark Gene: dnajc5 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.60 DNAJC5 Zornitza Stark Phenotypes for gene: DNAJC5 were changed from to Ceroid lipofuscinosis, neuronal, 4, Parry type, MIM# 162350
Early-onset Parkinson disease v0.59 DNAJC5 Zornitza Stark Publications for gene: DNAJC5 were set to
Early-onset Parkinson disease v0.58 DNAJC5 Zornitza Stark Mode of inheritance for gene: DNAJC5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.57 DNAJC5 Zornitza Stark reviewed gene: DNAJC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22978711, 21820099, 22235333; Phenotypes: Ceroid lipofuscinosis, neuronal, 4, Parry type, MIM# 162350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.57 CLN3 Zornitza Stark reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 3 MIM#204200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - adult onset v0.113 VAMP1 Zornitza Stark Marked gene: VAMP1 as ready
Ataxia - adult onset v0.113 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v0.113 VAMP1 Zornitza Stark Tag founder tag was added to gene: VAMP1.
Ataxia - adult onset v0.113 VAMP1 Zornitza Stark Publications for gene: VAMP1 were set to
Ataxia - adult onset v0.112 VAMP1 Zornitza Stark Classified gene: VAMP1 as Amber List (moderate evidence)
Ataxia - adult onset v0.112 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v0.111 VAMP1 Zornitza Stark reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 22958904; Phenotypes: Spastic ataxia 1, autosomal dominant, MIM# 108600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia - complex v0.142 VAMP1 Zornitza Stark Classified gene: VAMP1 as Amber List (moderate evidence)
Dystonia - complex v0.142 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Amber List (Moderate Evidence).
Dystonia - complex v0.141 VAMP1 Zornitza Stark Tag founder tag was added to gene: VAMP1.
Dystonia - complex v0.141 VAMP1 Zornitza Stark edited their review of gene: VAMP1: Added comment: Single variant reported in four Newfoundland families, founder effect.; Changed rating: AMBER; Changed phenotypes: Spastic ataxia 1, autosomal dominant, MIM# 108600
Hereditary Spastic Paraplegia - adult onset v0.40 VAMP1 Zornitza Stark Marked gene: VAMP1 as ready
Hereditary Spastic Paraplegia - adult onset v0.40 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia - adult onset v0.40 VAMP1 Zornitza Stark Tag founder tag was added to gene: VAMP1.
Hereditary Spastic Paraplegia - adult onset v0.40 VAMP1 Zornitza Stark Publications for gene: VAMP1 were set to
Hereditary Spastic Paraplegia - adult onset v0.39 VAMP1 Zornitza Stark Classified gene: VAMP1 as Amber List (moderate evidence)
Hereditary Spastic Paraplegia - adult onset v0.39 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia - adult onset v0.38 VAMP1 Zornitza Stark reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 22958904; Phenotypes: Spastic ataxia 1, autosomal dominant, MIM# 108600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - adult onset v0.38 HSPD1 Zornitza Stark Marked gene: HSPD1 as ready
Hereditary Spastic Paraplegia - adult onset v0.38 HSPD1 Zornitza Stark Gene: hspd1 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia - adult onset v0.38 HSPD1 Zornitza Stark Phenotypes for gene: HSPD1 were changed from Leukodystrophy, hypomyelinating, 4, autosomal recessive, 612233; Spastic paraplegia 13, autosomal dominant or pseudoautosomal, NOT imprinted, 605280 to Spastic paraplegia 13, autosomal dominant, MIM# 605280
Hereditary Spastic Paraplegia - adult onset v0.37 HSPD1 Zornitza Stark Publications for gene: HSPD1 were set to
Hereditary Spastic Paraplegia - adult onset v0.36 HSPD1 Zornitza Stark Classified gene: HSPD1 as Amber List (moderate evidence)
Hereditary Spastic Paraplegia - adult onset v0.36 HSPD1 Zornitza Stark Gene: hspd1 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia - adult onset v0.35 HSPD1 Zornitza Stark reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26900593, 11898127, 17420924; Phenotypes: Spastic paraplegia 13, autosomal dominant, MIM# 605280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4542 RP1L1 Zornitza Stark Marked gene: RP1L1 as ready
Mendeliome v0.4542 RP1L1 Zornitza Stark Gene: rp1l1 has been classified as Green List (High Evidence).
Mendeliome v0.4542 RP1L1 Zornitza Stark Phenotypes for gene: RP1L1 were changed from to Occult macular dystrophy (MIM#613587) AD; Retinitis pigmentosa 88 (MIM#618826) AR
Mendeliome v0.4541 RP1L1 Zornitza Stark Publications for gene: RP1L1 were set to
Mendeliome v0.4540 RP1L1 Zornitza Stark Mode of inheritance for gene: RP1L1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.18 CYP11B2 Zornitza Stark Marked gene: CYP11B2 as ready
Hypertension and Aldosterone disorders v0.18 CYP11B2 Zornitza Stark Gene: cyp11b2 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.18 CYP11B2 Zornitza Stark Phenotypes for gene: CYP11B2 were changed from to Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600)
Hypertension and Aldosterone disorders v0.17 CYP11B2 Zornitza Stark Publications for gene: CYP11B2 were set to
Hypertension and Aldosterone disorders v0.16 CYP11B2 Zornitza Stark Mode of inheritance for gene: CYP11B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4539 CYP11B2 Zornitza Stark Marked gene: CYP11B2 as ready
Mendeliome v0.4539 CYP11B2 Zornitza Stark Gene: cyp11b2 has been classified as Green List (High Evidence).
Mendeliome v0.4539 CYP11B2 Zornitza Stark Phenotypes for gene: CYP11B2 were changed from to Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600).
Mendeliome v0.4538 CYP11B2 Zornitza Stark Publications for gene: CYP11B2 were set to
Mendeliome v0.4537 CYP11B2 Zornitza Stark Mode of inheritance for gene: CYP11B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.200 HPS5 Zornitza Stark Marked gene: HPS5 as ready
Bleeding and Platelet Disorders v0.200 HPS5 Zornitza Stark Gene: hps5 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.200 HPS5 Zornitza Stark Phenotypes for gene: HPS5 were changed from to Hermansky-Pudlak syndrome 5 (MIM#614074)
Bleeding and Platelet Disorders v0.199 HPS5 Zornitza Stark Publications for gene: HPS5 were set to
Bleeding and Platelet Disorders v0.198 HPS5 Zornitza Stark Mode of inheritance for gene: HPS5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.197 HPS5 Zornitza Stark reviewed gene: HPS5: Rating: GREEN; Mode of pathogenicity: None; Publications: 28296950, 32725903; Phenotypes: Hermansky-Pudlak syndrome 5 (MIM#614074); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4536 HPS5 Zornitza Stark Marked gene: HPS5 as ready
Mendeliome v0.4536 HPS5 Zornitza Stark Gene: hps5 has been classified as Green List (High Evidence).
Mendeliome v0.4536 HPS5 Zornitza Stark Phenotypes for gene: HPS5 were changed from to Hermansky-Pudlak syndrome 5 (MIM#614074)
Mendeliome v0.4535 HPS5 Zornitza Stark Publications for gene: HPS5 were set to
Mendeliome v0.4534 HPS5 Zornitza Stark Mode of inheritance for gene: HPS5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4533 HPS5 Zornitza Stark reviewed gene: HPS5: Rating: GREEN; Mode of pathogenicity: None; Publications: 28296950, 32725903; Phenotypes: Hermansky-Pudlak syndrome 5 (MIM#614074); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.12 HPS5 Zornitza Stark Marked gene: HPS5 as ready
Ocular and Oculocutaneous Albinism v0.12 HPS5 Zornitza Stark Gene: hps5 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.12 HPS5 Zornitza Stark Phenotypes for gene: HPS5 were changed from to Hermansky-Pudlak syndrome 5 (MIM#614074)
Ocular and Oculocutaneous Albinism v0.11 HPS5 Zornitza Stark Publications for gene: HPS5 were set to
Ocular and Oculocutaneous Albinism v0.10 HPS5 Zornitza Stark Mode of inheritance for gene: HPS5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4533 IBA57 Zornitza Stark Phenotypes for gene: IBA57 were changed from Multiple mitochondrial dysfunctions syndrome 3, MIM#615330 to Multiple mitochondrial dysfunctions syndrome 3, MIM#615330; Spastic paraplegia 74, autosomal recessive MIM#616451
Mendeliome v0.4532 IBA57 Zornitza Stark Publications for gene: IBA57 were set to 23462291; 25971455; 27785568; 28671726; 28913435
Mendeliome v0.4531 IBA57 Zornitza Stark changed review comment from: More than 15 families reported with bi-allelic variants in this gene and a severe neurodegenerative disorder characterised by loss of previously acquired developmental milestones in the first months or years of life. Some affected individuals have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some individuals die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some individuals may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable.; to: MMDS3: More than 15 families reported with bi-allelic variants in this gene and a severe neurodegenerative disorder characterised by loss of previously acquired developmental milestones in the first months or years of life. Some affected individuals have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some individuals die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some individuals may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable.

SPG74: Three families with spastic paraparesis as a feature of the condition.
Mendeliome v0.4531 IBA57 Zornitza Stark edited their review of gene: IBA57: Changed phenotypes: Multiple mitochondrial dysfunctions syndrome 3, MIM#615330, Spastic paraplegia 74, autosomal recessive MIM#616451
Mendeliome v0.4531 IBA57 Zornitza Stark edited their review of gene: IBA57: Changed publications: 23462291, 25971455, 27785568, 28671726, 28913435, 25609768 30258207
Mitochondrial disease v0.501 IBA57 Zornitza Stark Marked gene: IBA57 as ready
Mitochondrial disease v0.501 IBA57 Zornitza Stark Gene: iba57 has been classified as Green List (High Evidence).
Mitochondrial disease v0.501 IBA57 Zornitza Stark Phenotypes for gene: IBA57 were changed from to Multiple mitochondrial dysfunctions syndrome 3, MIM# 615330
Mitochondrial disease v0.500 IBA57 Zornitza Stark Publications for gene: IBA57 were set to
Mitochondrial disease v0.499 IBA57 Zornitza Stark Mode of inheritance for gene: IBA57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.498 IBA57 Zornitza Stark reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: None; Publications: 23462291, 25971455, 27785568, 28671726, 28913435; Phenotypes: Multiple mitochondrial dysfunctions syndrome 3, MIM# 615330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4531 IBA57 Zornitza Stark Marked gene: IBA57 as ready
Mendeliome v0.4531 IBA57 Zornitza Stark Gene: iba57 has been classified as Green List (High Evidence).
Mendeliome v0.4531 IBA57 Zornitza Stark Phenotypes for gene: IBA57 were changed from to Multiple mitochondrial dysfunctions syndrome 3, MIM#615330
Mendeliome v0.4530 IBA57 Zornitza Stark Publications for gene: IBA57 were set to
Mendeliome v0.4529 IBA57 Zornitza Stark Mode of inheritance for gene: IBA57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4528 IBA57 Zornitza Stark reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: None; Publications: 23462291, 25971455, 27785568, 28671726, 28913435; Phenotypes: Multiple mitochondrial dysfunctions syndrome 3, MIM#615330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.203 IBA57 Zornitza Stark Marked gene: IBA57 as ready
Leukodystrophy - paediatric v0.203 IBA57 Zornitza Stark Gene: iba57 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.203 IBA57 Zornitza Stark Phenotypes for gene: IBA57 were changed from Multiple mitochondrial dysfunctions syndrome 3, 615330 to Multiple mitochondrial dysfunctions syndrome 3, MIM#615330
Leukodystrophy - paediatric v0.202 IBA57 Zornitza Stark Publications for gene: IBA57 were set to
Leukodystrophy - paediatric v0.201 IBA57 Zornitza Stark reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: None; Publications: 23462291, 25971455, 27785568, 28671726, 28913435; Phenotypes: Multiple mitochondrial dysfunctions syndrome 3, MIM# 615330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4528 RP1L1 Teresa Zhao reviewed gene: RP1L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23281133, 30025130, 32360662; Phenotypes: Occult macular dystrophy (MIM#613587) AD, Retinitis pigmentosa 88 (MIM#618826) AR; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.15 CYP11B2 Paul De Fazio reviewed gene: CYP11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8439335, 9360501, 15240589, 9814506, 12788848, 8772616; Phenotypes: Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600).; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.4528 CYP11B2 Paul De Fazio reviewed gene: CYP11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8439335, 9360501, 15240589, 9814506, 12788848, 8772616; Phenotypes: Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600).; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Ocular and Oculocutaneous Albinism v0.9 HPS5 Ain Roesley edited their review of gene: HPS5: Changed rating: GREEN
Ocular and Oculocutaneous Albinism v0.9 HPS5 Ain Roesley reviewed gene: HPS5: Rating: ; Mode of pathogenicity: None; Publications: 28296950, 32725903; Phenotypes: Hermansky-Pudlak syndrome 5 (MIM#614074),; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.201 IBA57 Teresa Zhao reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: None; Publications: 27785568, 28671726; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pharmacogenomics_Paediatric v0.50 UGT1A1 David Metz gene: UGT1A1 was added
gene: UGT1A1 was added to Pharmacogenomics_Paediatric. Sources: Other
Mode of inheritance for gene: UGT1A1 was set to Other
Publications for gene: UGT1A1 were set to 21412232; 25817555; 26417955
Phenotypes for gene: UGT1A1 were set to Irinotecan metabolism, increased toxicities with reduced metaboliser status; Atazanavir metabolism, increased risk jaundice and discontinuation with reduced metaboliser status
Mode of pathogenicity for gene: UGT1A1 was set to Other
Review for gene: UGT1A1 was set to GREEN
Added comment: Sources: Other
Pharmacogenomics_Paediatric v0.50 SLCO1B1 David Metz reviewed gene: SLCO1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22617227; Phenotypes: Risk for simvastatin-induced myopathy; Mode of inheritance: None
Hyperthyroidism v0.1 Zornitza Stark Panel types changed to Rare Disease
Hyperthyroidism v0.0 TTR Zornitza Stark gene: TTR was added
gene: TTR was added to Hyperthyroidism. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TTR were set to 31590893; 26522458
Phenotypes for gene: TTR were set to DTTRH; [Dystransthyretinemic hyperthyroxinemia], 145680
Mode of pathogenicity for gene: TTR was set to Other
Hyperthyroidism v0.0 TSHR Zornitza Stark gene: TSHR was added
gene: TSHR was added to Hyperthyroidism. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: TSHR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TSHR were set to Hyperthyroidism, nonautoimmune, 609152; Congenital, nonautoimmune hyperthyroidism
Hyperthyroidism v0.0 THRB Zornitza Stark gene: THRB was added
gene: THRB was added to Hyperthyroidism. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: THRB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: THRB were set to 24847459
Phenotypes for gene: THRB were set to Thyroid Hormone Resistance, Selective Pituitary; 145650; THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; thyroid hormone unresponsiveness, generalized RTH, RTH beta; THYROID HORMONE UNRESPONSIVENESS; REFETOFF SYNDROME; Refetoff syndrome; THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; PRTH; Thyroid hormone resistance, selective pituitary, 145650; GRTH; THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; Resistance to thyroid hormone (RTH); Thyroid hormone resistance, 188570; Thyroid hormone resistance, autosomal recessive, 274300; Thyroid Hormone Resistance (monoallelic); HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION; THYROID HORMONE UNRESPONSIVENESS HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES
Hyperthyroidism v0.0 THRA Zornitza Stark gene: THRA was added
gene: THRA was added to Hyperthyroidism. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: THRA were set to 24847459; 27144938; 22168587; 23940126; 2567082; 22494134; 27381958
Phenotypes for gene: THRA were set to Resistance to Thyroid Hormone due to defective thyroid receptor alpha (RTHa); Hypothyroidism, congenital, nongoitrous, 6, 614450; congenital nongoitrous hypothyroidism 6; RTH alpha; HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; Resistance to thyroid hormone alpha; CHNG6
Hyperthyroidism v0.0 SLC16A2 Zornitza Stark gene: SLC16A2 was added
gene: SLC16A2 was added to Hyperthyroidism. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC16A2 were set to 24847459
Phenotypes for gene: SLC16A2 were set to MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA; mental retardation, X-linked, with hypotonia; Allan-Herndon-Dudley syndrome; ALLAN-HERNDON SYNDROME; T3 RESISTANCE; AHDS; ALLAN-HERNDON-DUDLEY SYNDROME; MENTAL RETARDATION AND MUSCULAR ATROPHY; Monocarboxylate transporter 8 (MCT8) defect; MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency; TRIIODOTHYRONINE RESISTANCE; Allan-Herndon-Dudley syndrome, 300523; monocarboxylate transporter 8 (MCT8) deficiency; Allan-Herndon-Dudley Syndrome; 300523; MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY; Allan_Herndon_Dudley Syndrome
Hyperthyroidism v0.0 SECISBP2 Zornitza Stark gene: SECISBP2 was added
gene: SECISBP2 was added to Hyperthyroidism. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SECISBP2 were set to 22986150; 24629861; 19602558; 22247018; 20501692; 16228000; Diversity Selenium Functions in Health and Disease, Edited by Regina Brigelius-Flohe and Helmut Sies, Chapter 16. Mutations in SECISBP2. Erik Schoenmakers, Carla Moran, Nadia Schoenmakers and Krishna Chatterjee. CRC Press 2015. Pages 343 376. Print ISBN: 978-1-4822-5126-5. eBook ISBN: 978-1-4822-5127-2. DOI: 10.1201/b18810-23; 21084748
Phenotypes for gene: SECISBP2 were set to Selenocysteine insertion sequence binding protein 2 (SBP2) defect; Thyroid hormone metabolism, abnormal, 609698; Short stature-delayed bone age due to thyroid hormone metabolism deficiency; THYROID HORMONE METABOLISM, ABNORMAL; Abnormal thyroid hormone metabolism
Hyperthyroidism v0.0 ALB Zornitza Stark gene: ALB was added
gene: ALB was added to Hyperthyroidism. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ALB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ALB were set to 29163366; 24646103; 8064810; 27834068
Phenotypes for gene: ALB were set to Familial dysalbuminaemic hyperthyroxinaemia; [Dysalbuminemic hyperthyroxinemia], 615999
Hyperthyroidism v0.0 Zornitza Stark Added panel Hyperthyroidism
Pharmacogenomics_Paediatric v0.50 CYP2C9 David Metz edited their review of gene: CYP2C9: Changed phenotypes: Phenytoin metabolism - increased risk toxicities
Pharmacogenomics_Paediatric v0.50 CYP2C9 David Metz changed review comment from: 25099164
Reduced phenytoin metabolism, increased risk phenytoin-induced SJS/TEN
If CYP2C9 IM or PM and phenytoin naive, avoid phenytoin.; to: 25099164
If CYP2C9 IM, consider 25% reduction starting dose (moderate recommendation).
If CYP2C9 PM, consider 50% reduction starting dose phenytoin (strong recommendation).
Pharmacogenomics_Paediatric v0.50 HLA-B David Metz changed review comment from:
HLA-B*15:02:
Increased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increase oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).
Increased phenytoin-induced SJS/TEN (moderate association, 23692434).

PMID 26094938
HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701 and Abacavir hypersensitivity.
25934581, 22378157

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810

PMID 32714190 (review article)
HLA-B*57:01, carbamazepine and SJS/TEN.
HLA-B*15:11, carbamazepine and SJS/TEN.

HLA-B*13:01, dapsone and DRESS (29458119); to:
HLA-B*15:02:
Increased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increase oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).
Increased phenytoin-induced SJS/TEN (25099164).

PMID 26094938
HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701 and Abacavir hypersensitivity.
25934581, 22378157

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810

PMID 32714190 (review article)
HLA-B*57:01, carbamazepine and SJS/TEN.
HLA-B*15:11, carbamazepine and SJS/TEN.

HLA-B*13:01, dapsone and DRESS (29458119)
Pharmacogenomics_Paediatric v0.50 CYP2C9 David Metz edited their review of gene: CYP2C9: Added comment: 25099164
Reduced phenytoin metabolism, increased risk phenytoin-induced SJS/TEN
If CYP2C9 IM or PM and phenytoin naive, avoid phenytoin.; Changed publications: 18406467, 25099164; Changed phenotypes: Increased risk phenytoin-induced SJS/TEN
Pharmacogenomics_Paediatric v0.50 HLA-B David Metz changed review comment from:
HLA-B*15:02:
Increased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increase oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).
Increased phenytoin-induced SJS/TEN (moderate association, 23692434).

PMID 26094938
HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701 and Abacavir hypersensitivity.
25934581, 22378157

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810

PMID 32714190 (review article)
HLA-B*57:01, carbamazepine and SJS/TEN.
HLA-B*15:11, carbamazepine and SJS/TEN.

HLA-B*13:01, dapsone and DRESS (29458119); to:
HLA-B*15:02:
Increased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increase oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).
Increased phenytoin-induced SJS/TEN (moderate association, 23692434).

PMID 26094938
HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701 and Abacavir hypersensitivity.
25934581, 22378157

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810

PMID 32714190 (review article)
HLA-B*57:01, carbamazepine and SJS/TEN.
HLA-B*15:11, carbamazepine and SJS/TEN.

HLA-B*13:01, dapsone and DRESS (29458119)
Pharmacogenomics_Paediatric v0.50 SLCO1B1 David Metz gene: SLCO1B1 was added
gene: SLCO1B1 was added to Pharmacogenomics_Paediatric. Sources: Other
Mode of inheritance for gene: SLCO1B1 was set to Other
Publications for gene: SLCO1B1 were set to 22617227
Phenotypes for gene: SLCO1B1 were set to Risk for simvastatin-induced myopathy
Mode of pathogenicity for gene: SLCO1B1 was set to Other
Pharmacogenomics_Paediatric v0.50 DPYD David Metz changed review comment from: Fluoropyrimidine Dosing
Sources: Other; to: Fluoropyrimidine (5-FU) Dosing
Capecitabine
Tegafur

Sources:
31038729
28262261
https://www.pharmgkb.org/guidelineAnnotation/PA166202721
Mitochondrial disease v0.498 NDUFV2 Ain Roesley reviewed gene: NDUFV2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12754703, 19167255, 26008862; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4528 NSUN3 Zornitza Stark Phenotypes for gene: NSUN3 were changed from combined mitochondrial respiratory chain complex deficiency to Combined oxidative phosphorylation deficiency 48, MIM# 619012
Mendeliome v0.4527 NSUN3 Zornitza Stark Publications for gene: NSUN3 were set to 27356879
Mendeliome v0.4526 NSUN3 Zornitza Stark edited their review of gene: NSUN3: Added comment: Second family reported with early-onset mitochondrial encephalomyopathy and seizures.; Changed publications: 27356879, 32488845; Changed phenotypes: Combined oxidative phosphorylation deficiency 48, MIM# 619012
Mitochondrial disease v0.498 NSUN3 Zornitza Stark Phenotypes for gene: NSUN3 were changed from combined mitochondrial respiratory chain complex deficiency to Combined oxidative phosphorylation deficiency 48, MIM# 619012
Mitochondrial disease v0.497 NSUN3 Zornitza Stark Publications for gene: NSUN3 were set to 27356879
Mitochondrial disease v0.496 NSUN3 Zornitza Stark reviewed gene: NSUN3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27356879, 32488845; Phenotypes: Combined oxidative phosphorylation deficiency 48, MIM# 619012; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4526 LIFR Zornitza Stark Publications for gene: LIFR were set to 28334964
Mendeliome v0.4525 LIFR Zornitza Stark edited their review of gene: LIFR: Added comment: Bi-allelic variants: At least 28 unique variants (nonsense, frameshift, splicing, missense, gross deletions) have been reported in individuals with Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 22 of which are predicted to cause LOF, suggesting homozygous LOF is the mechanism of disease for this gene. Variants in this gene have been reported in at least 22 probands in four publications.

Mono-allelic variants: associated with CAKUT in 4 individuals, mouse model recapitulates phenotype.; Changed rating: GREEN; Changed publications: 14740318, 20447141, 24988918, 29620724, 28334964; Changed phenotypes: Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559, CAKUT; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.4525 PAX7 Zornitza Stark Marked gene: PAX7 as ready
Mendeliome v0.4525 PAX7 Zornitza Stark Gene: pax7 has been classified as Green List (High Evidence).
Mendeliome v0.4525 PAX7 Zornitza Stark Phenotypes for gene: PAX7 were changed from to Myopathy, congenital, progressive, with scoliosis, MIM# 618578
Mendeliome v0.4524 PAX7 Zornitza Stark Publications for gene: PAX7 were set to
Mendeliome v0.4523 PAX7 Zornitza Stark Mode of inheritance for gene: PAX7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4522 PAX7 Zornitza Stark reviewed gene: PAX7: Rating: GREEN; Mode of pathogenicity: None; Publications: 31092906, 11030621, 24065826, 31092906, 8631261, 11030621, 24065826; Phenotypes: Myopathy, congenital, progressive, with scoliosis, MIM# 618578; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3021 MADD Zornitza Stark Phenotypes for gene: MADD were changed from intellectual disability to DEEAH syndrome, MIM#619004 (Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities); Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia (NEDDISH), MIM# 619005
Intellectual disability syndromic and non-syndromic v0.3020 MADD Zornitza Stark Publications for gene: MADD were set to 28940097
Intellectual disability syndromic and non-syndromic v0.3019 MADD Zornitza Stark reviewed gene: MADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097, 29302074, 32761064; Phenotypes: DEEAH syndrome, MIM#619004 (Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities), Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia (NEDDISH), MIM# 619005; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4522 MADD Zornitza Stark Phenotypes for gene: MADD were changed from Intellectual disability; seizures; autonomic dysfunction; endocrine dysfunction to DEEAH syndrome, MIM#619004 (Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities); Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia (NEDDISH), MIM# 619005
Mendeliome v0.4521 MADD Zornitza Stark edited their review of gene: MADD: Added comment: OMIM have assigned two disease entities to this gene.

DEEAH syndrome: 12 families.
NEDDISH syndrome: 8 families.; Changed phenotypes: DEEAH syndrome, MIM#619004 (Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities), Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia (NEDDISH), MIM# 619005
Genetic Epilepsy v0.863 MADD Zornitza Stark Phenotypes for gene: MADD were changed from Global developmental delay / Intellectual disability / Seizures; Global developmental delay / Intellectual disability / Seizures / Abnormality of the endocrine system / Exocrine pancreatic insufficiency / Constipation / Diarrhea / Anemia / Thrombocytopenia / Abnormality of the autonomic nervous system to DEEAH syndrome, MIM#619004 (Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities); Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia (NEDDISH), MIM# 619005
Genetic Epilepsy v0.862 MADD Zornitza Stark reviewed gene: MADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097, 29302074, 32761064; Phenotypes: DEEAH syndrome, MIM#619004 (Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities), Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia (NEDDISH), MIM# 619005; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4521 SLC12A2 Zornitza Stark Publications for gene: SLC12A2 were set to 30740830; 32294086
Mendeliome v0.4520 SLC12A2 Zornitza Stark edited their review of gene: SLC12A2: Added comment: Monoallelic :
DD/ID was a feature in >= 6 individuals with monoallelic de novo SLC12A2. An individual with an exon 22 truncating variant was reported to have normal milestones and cognitive function. Exon 21 variants have been described in individuals with rather isolated hearing impairment (possibly some associated motor delay, but normal cognition). Hearing impairment was also reported in 2/6 patients with variants in other exons (1 missense / 1 frameshift).

Biallelic :
DD/ID was reported in at least 3 individuals in literature. Hearing impairment has been reported on 2 occasions (although this was not probably evaluated in all subjects).

---

Monoallelic SLC12A2 mutations :

► Individuals with de novo mutations and developmental disorder were first identified by the DDD study (2017 - PMID: 28135719). 5 of them have been reported in detail by McNeill et al (below).

► McNeill et al (2020 - PMID: 32658972) report on 6 individuals with neurodevelopmental disorder due to de novo SLC12A2 mutation. All presented DD or ID ranging from mild to severe. ASD was reported in 3/6. Sensorineural hearing loss was a feature in 2/6 with the remaining having normal formal evaluations. Brain, cardiac and/or additional malformations were reported in a single individual. Following non-diagnostic prior work-up (CMA, FMR1 or other investigations) trio exome sequencing revealed missense (4/6) or truncating variants (2/6).

Three additional individuals (incl. a father and his son) with missense variants in exon 21 (NM_001046.3 / p.Glu979Lys and p.Glu980Lys) presented with bilateral sensorineural hearing loss. Speech and/or motor delay reported in these cases were attributed to the hearing impairment/vestibular arreflexia (cognitive abilities not tested).

SLC12A2 encodes sodium-potassium-chloride transporter 1 (also NKCC1).

The GTEx project has identified 8 isoforms. In brain both exon 21-containing/deleted isoforms are expressed (cited Morita et al 2014 - PMID: 24695712). As the authors discuss, RNA-seq of the developing mouse cochlea suggests that the exon 21 containing isoform is the single transcript expressed. Evidence from RNA-seq data (BrainSpan project) and literature suggests that the significant amounts of exon 21 lacking isoforms in fetal brain compensate for the deleterious effects of exon 21 variants and explain the lack of NDD in relevant patients.

Slc12a2 (NKCC1) null mouse model has demonstrated that the transporter plays a role in accumulation of the potassium rich endolymph in the inner ear, with NKCC1 absence causing sensorineural deafness and imbalance. Slc12a2 display cochlear malformations, loss of hair cells and hearing impairment (cited Delpire et al 1999 - PMID: 10369265). The brain phenotype has not been studied extensively, although loss of Slc12a2 has been shown to inhibit neurogenesis (cited: Magalhães and Rivera et al. - PMID: 27582690).

Slc12a2 null zebrafish display a collapse of the otic vesicle and reduced endolymph (Abbas and Whitfield, 2009 - PMID: 19633174) relevant to the human hearing disorder.

In vitro assessment of NKCC1 ion transporter function in Xenopus laevis, supported the deleterious effect of the identified variants (significant reduction in K+ influx). Using available single cell RNA-seq data the authors further demonstrated that SLC12A2 expressing cells display transcriptomic profiles reflective of active neurogenesis.

► Delpire et al (2016 - PMID: 27900370 - not reviewed in detail) described a 13 y.o. girl harboring a de novo 11-bp deletion in SLC12A2 exon 22. This individual reached developmental milestones on time and had a NORMAL cognitive function. Hearing was seemingly normal. Features included orthostatic intolerance, respiratory weakness, multiple endocrine abnormalities, pancreatic insufficiency and multiorgan failure incl. gut and bladder. Exome in the proband, parents and 3 unaffected sibs suggested SLC12A2 as the only candidate for her phenotype. Functional analyses in Xenopus laevis oocytes suggested that a non functional transporter was expressed and trafficked to the membrane as the wt. Detection of the truncated protein at higher molecular sizes suggested either enhanced dimerization or misfolded aggregate. There was no dominant-negative effect of mutant NKCC1. In patient fibroblasts a reduced total and NKCC1-mediated K+ influx.

► Mutai et al (2020 - PMID: 32294086) report on several individuals from 4 families, harboring variants within exon 21 or - in one case - at it's 3' splice-site (leading to skipping oe this exon at the mRNA level). All subjects were investigated for severe/profound hearing loss (in line with the role of exon 21-included isoforms in cochlea. The variant segregated with hearing impairment in 3 generations of a family while in all other subjects the variant had occured as de novo event. Despite motor delays (e.g. the subject from fam2 could not hold head or sit at the age of 10m / the proband in Fam3 was able to hold his head and walk at 6 and 20 m respectively) behavior and cognition were commented to be within normal range.


-----

Biallelic SLC12A2 mutations:

► Anazi et al (2017 - PMID: 29288388) briefly reported on a 3 y.o. boy (17DG0776) with central hypotonia, neonatal respiratory distress, failure to thrive, global DD and microcephaly and a skeletal survey suggestive of osteopenia. After non-diagnostic prior investigations (CMA revealing a 1p duplication classified as VUS, extensive metabolic workup), WES revealed a homozygous SLC12A2 splicing variant [NM_001046.2:c.2617-2A>G].

► Macnamara et al (2019 - PMID: 30740830) described a 5.5 y.o. male with sensorineural hearing loss, profound delays in all developmental areas among several other features (choanal atresia, failure to thrive, respiratory problems, absent sweat and tear production or salivation, GI abnormalities). Genetic testing for several disorders considered (cystic fibrosis, spinal muscular atrophy, sequencing and del/dup analysis of mtDNA) was normal. CMA revealed paternal uniparental isodisomy for chr. 5 and WGS a homozygous 22kb deletion in SLC12A2. This was followed by confirmation of homozygosity in the proband, heterozygosity of the unaffected father, delineation of breakpoints (chr5:127441491-127471419). mRNA studies in patient fibroblasts confirmed deletion of ex2-7, splicing of ex1 directly to ex8 and introduction of a premature stop codon in ex9. qRT-PCR confirmed that mRNA is likely subjected to NMD (expression ~80% of control). Western blot confirmed absence of the protein in the patient's fibroblasts. Again mouse models are thought to recapitulate the hearing defect but also the deficient saliva production (cited Evans et al 2000 - PMID: 10831596). Again the authors speculate a role of SLC12A2 in brain development based on evidence from murine models (migration, dendritic growth, increse in neuron density through regulation of GABAergic signalling (Young et al 2012 - PMID: 23015452). Hypotheses are also made on a regulatory relationship between NKCC1 and CFTR based on mRNA data from the ko mouse model.

► Stödberg et al (2020 - PMID: 32754646) reported 2 sibs with a complex neurodevelopmental disorder due to compound heterozygosity for a frameshift SLC12A2 variant and a splicing one (NM_001046:c.1431delT and c.2006-1G>A). Both presented hypotonia, neonatal S. aureus parotitis and respiratory problems (incl. apneas). While the older sib died at the age of 22 days, the younger one had persistent respiratory issues incl. a dry respiratory mucosa motivating metabolic, immunology investigations and testing for CF. She displayed microcephaly (OFC -2.5 SD, H was also -3.5SD), severe intellectual disability. MRI was suggestive of white matter and basal ganglia abnormalities. Other features incl. hearing impairment, and lack of tears,saliva and sweat, constipation and intestinal malrotation. There was facial dysmorphism. The variants were the only retained following WGS of the 2 affected sisters, parents and an unaffected brother. The splicing variant was shown to result in skipping of exon 13, while the indel in NMD. Again the authors discuss that the deficient saliva production, impaired hearing and GI problems are recapitulated in the mouse model (several refs provided).; Changed rating: GREEN; Changed publications: 28135719, 32658972, 27900370, 32294086, 29288388, 30740830, 32754646; Changed phenotypes: Kilquist syndrome, deafness, intellectual disability, dysmorphic features, absent salivation, ectodermal dysplasia, constipation, intestinal malrotation, multiple congenital anomalies; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3019 SLC12A2 Zornitza Stark Publications for gene: SLC12A2 were set to 30740830
Intellectual disability syndromic and non-syndromic v0.3018 SLC12A2 Zornitza Stark Mode of inheritance for gene: SLC12A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3017 SLC12A2 Konstantinos Varvagiannis reviewed gene: SLC12A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28135719, 32658972, 27900370, 32294086, 29288388, 30740830, 32754646; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pharmacogenomics_Paediatric v0.50 HLA-B David Metz changed review comment from:
HLA-B*15:02:
Increased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increase oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).
Increased phenytoin-induced SJS/TEN (moderate association, 23692434).

PMID 26094938
HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701 and Abacavir hypersensitivity.
25934581, 22378157

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810

PMID 32714190 (review article)
HLA-B*57:01, carbamazepine and SJS/TEN.
HLA-B*15:11, carbamazepine and SJS/TEN.
HLA-B*31:01, carbamazepine and DRESS.

HLA-B*13:01, dapsone and DRESS (29458119)

PMID 32714190 (review article)
Phenytoin and B*15:02, B*13:01, B*51:01 (? strength)
Others (beta-lactams, fluclox, augmentin, nevirapine).; to:
HLA-B*15:02:
Increased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increase oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).
Increased phenytoin-induced SJS/TEN (moderate association, 23692434).

PMID 26094938
HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701 and Abacavir hypersensitivity.
25934581, 22378157

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810

PMID 32714190 (review article)
HLA-B*57:01, carbamazepine and SJS/TEN.
HLA-B*15:11, carbamazepine and SJS/TEN.

HLA-B*13:01, dapsone and DRESS (29458119)
Pharmacogenomics_Paediatric v0.50 HLA-B David Metz changed review comment from:
HLA-B*15:02:
Increased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increase oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).
Increased phenytoin-induced SJS/TEN (moderate association, 23692434).

PMID 26094938
HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701 and Abacavir hypersensitivity.
25934581, 22378157
HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810

PMID 32714190 (review article)
HLA-B*57:01, carbamazepine and SJS/TEN.
HLA-B*15:11, carbamazepine and SJS/TEN.
HLA-B*31:01, carbamazepine and DRESS.

HLA-B*13:01, dapsone and DRESS (29458119)

PMID 32714190 (review article)
Phenytoin and B*15:02, B*13:01, B*51:01 (? strength)
Others (beta-lactams, fluclox, augmentin, nevirapine).; to:
HLA-B*15:02:
Increased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increase oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).
Increased phenytoin-induced SJS/TEN (moderate association, 23692434).

PMID 26094938
HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701 and Abacavir hypersensitivity.
25934581, 22378157

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810

PMID 32714190 (review article)
HLA-B*57:01, carbamazepine and SJS/TEN.
HLA-B*15:11, carbamazepine and SJS/TEN.
HLA-B*31:01, carbamazepine and DRESS.

HLA-B*13:01, dapsone and DRESS (29458119)

PMID 32714190 (review article)
Phenytoin and B*15:02, B*13:01, B*51:01 (? strength)
Others (beta-lactams, fluclox, augmentin, nevirapine).
Pharmacogenomics_Paediatric v0.50 HLA-B David Metz changed review comment from:
HLA-B*15:02 positive:
Increased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increase oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).

PMID 26094938
Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701 and Abacavir hypersensitivity.
PMID: 25934581
PMID: 22378157

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810; to:
HLA-B*15:02:
Increased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increase oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).
Increased phenytoin-induced SJS/TEN (moderate association, 23692434).

PMID 26094938
HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701 and Abacavir hypersensitivity.
25934581, 22378157
HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810

PMID 32714190 (review article)
HLA-B*57:01, carbamazepine and SJS/TEN.
HLA-B*15:11, carbamazepine and SJS/TEN.
HLA-B*31:01, carbamazepine and DRESS.

HLA-B*13:01, dapsone and DRESS (29458119)

PMID 32714190 (review article)
Phenytoin and B*15:02, B*13:01, B*51:01 (? strength)
Others (beta-lactams, fluclox, augmentin, nevirapine).
Pharmacogenomics_Paediatric v0.50 HLA-B David Metz changed review comment from: PMID 29392710
HLA-B*15:02 positive:
Greater risk of carbamazepine-induced SJS/TEN.
Greater risk of oxcarbazepine induced SJS/TEN

PMID 26094938
Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701 and Abacavir hypersensitivity.

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810; to:
HLA-B*15:02 positive:
Increased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increase oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).

PMID 26094938
Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701 and Abacavir hypersensitivity.
PMID: 25934581
PMID: 22378157

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810
Hereditary Spastic Paraplegia - adult onset v0.35 GJC2 Zornitza Stark Marked gene: GJC2 as ready
Hereditary Spastic Paraplegia - adult onset v0.35 GJC2 Zornitza Stark Gene: gjc2 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia - adult onset v0.35 GJC2 Zornitza Stark Phenotypes for gene: GJC2 were changed from Spastic paraplegia 44, autosomal recessive; Leukodystrophy, hypomyelinating, 2, 608804, AR; Spastic paraplegia 44, autosomal recessive 613206, AR to Leukodystrophy, hypomyelinating, 2, 608804, AR; Spastic paraplegia 44, autosomal recessive 613206, AR
Hereditary Spastic Paraplegia - adult onset v0.34 GJC2 Zornitza Stark Publications for gene: GJC2 were set to
Hereditary Spastic Paraplegia - adult onset v0.33 GJC2 Zornitza Stark Classified gene: GJC2 as Amber List (moderate evidence)
Hereditary Spastic Paraplegia - adult onset v0.33 GJC2 Zornitza Stark Gene: gjc2 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia - adult onset v0.32 GJC2 Zornitza Stark reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19056803, 23684670; Phenotypes: Spastic paraplegia 44, autosomal recessive, MIM# 613206; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - adult onset v0.32 GCH1 Zornitza Stark Marked gene: GCH1 as ready
Hereditary Spastic Paraplegia - adult onset v0.32 GCH1 Zornitza Stark Gene: gch1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.32 GCH1 Zornitza Stark Classified gene: GCH1 as Green List (high evidence)
Hereditary Spastic Paraplegia - adult onset v0.32 GCH1 Zornitza Stark Gene: gch1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.31 GCH1 Zornitza Stark gene: GCH1 was added
gene: GCH1 was added to Hereditary Spastic Paraplegia - adult onset. Sources: Expert list
Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GCH1 were set to 21935284; 24509643
Phenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230
Review for gene: GCH1 was set to GREEN
Added comment: Misdiagnosis as spasticity/CP documented. Treatable disorder. Include on panel due to phenotypic overlap.
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.30 CPT1C Zornitza Stark Publications for gene: CPT1C were set to 25751282; 30911584; 30564185
Hereditary Spastic Paraplegia - adult onset v0.29 CPT1C Zornitza Stark Marked gene: CPT1C as ready
Hereditary Spastic Paraplegia - adult onset v0.29 CPT1C Zornitza Stark Gene: cpt1c has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.29 CPT1C Zornitza Stark Phenotypes for gene: CPT1C were changed from ?Spastic paraplegia 73, autosomal dominant, 616282 to Spastic paraplegia 73, autosomal dominant, MIM#616282
Hereditary Spastic Paraplegia - adult onset v0.28 CPT1C Zornitza Stark Publications for gene: CPT1C were set to 25751282; 30911584
Hereditary Spastic Paraplegia - adult onset v0.27 CPT1C Zornitza Stark reviewed gene: CPT1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 30564185; Phenotypes: Spastic paraplegia 73, autosomal dominant 616282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - adult onset v0.27 C19orf12 Zornitza Stark Marked gene: C19orf12 as ready
Hereditary Spastic Paraplegia - adult onset v0.27 C19orf12 Zornitza Stark Gene: c19orf12 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.27 C19orf12 Zornitza Stark Classified gene: C19orf12 as Green List (high evidence)
Hereditary Spastic Paraplegia - adult onset v0.27 C19orf12 Zornitza Stark Gene: c19orf12 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.26 C19orf12 Zornitza Stark gene: C19orf12 was added
gene: C19orf12 was added to Hereditary Spastic Paraplegia - adult onset. Sources: Expert list
Mode of inheritance for gene: C19orf12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: C19orf12 were set to 20039086; 21981780; 23269600; 31087512
Phenotypes for gene: C19orf12 were set to Neurodegeneration with brain iron accumulation 4, MIM# 614298; Spastic paraplegia 43, autosomal recessive, MIM# 615043
Review for gene: C19orf12 was set to GREEN
Added comment: Single family reported with SPG phenotype. However, spasticity is also a feature of the NBIA phenotype, which can be of variable age of onset, including in young adults.
Sources: Expert list
Mackenzie's Mission_Reproductive Carrier Screening v0.23 VPS37A Zornitza Stark reviewed gene: VPS37A: Rating: AMBER; Mode of pathogenicity: None; Publications: 22717650; Phenotypes: Spastic paraplegia 53, autosomal recessive, MIM# 614898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4520 VPS37A Zornitza Stark Marked gene: VPS37A as ready
Mendeliome v0.4520 VPS37A Zornitza Stark Gene: vps37a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4520 VPS37A Zornitza Stark Phenotypes for gene: VPS37A were changed from to Spastic paraplegia 53, autosomal recessive, MIM# 614898
Mendeliome v0.4519 VPS37A Zornitza Stark Publications for gene: VPS37A were set to
Mendeliome v0.4518 VPS37A Zornitza Stark Mode of inheritance for gene: VPS37A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4517 VPS37A Zornitza Stark Classified gene: VPS37A as Amber List (moderate evidence)
Mendeliome v0.4517 VPS37A Zornitza Stark Gene: vps37a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4516 VPS37A Zornitza Stark reviewed gene: VPS37A: Rating: AMBER; Mode of pathogenicity: None; Publications: 22717650; Phenotypes: Spastic paraplegia 53, autosomal recessive, MIM# 614898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.150 VPS37A Zornitza Stark Marked gene: VPS37A as ready
Hereditary Spastic Paraplegia - paediatric v0.150 VPS37A Zornitza Stark Gene: vps37a has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia - paediatric v0.150 VPS37A Zornitza Stark Phenotypes for gene: VPS37A were changed from Spastic paraplegia 53, autosomal recessive; Spastic paraplegia 53, autosomal recessive, 614898, AR to Spastic paraplegia 53, autosomal recessive, MIM# 614898, AR
Hereditary Spastic Paraplegia - paediatric v0.149 VPS37A Zornitza Stark Classified gene: VPS37A as Amber List (moderate evidence)
Hereditary Spastic Paraplegia - paediatric v0.149 VPS37A Zornitza Stark Gene: vps37a has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia - paediatric v0.148 VPS37A Zornitza Stark reviewed gene: VPS37A: Rating: AMBER; Mode of pathogenicity: None; Publications: 22717650; Phenotypes: Spastic paraplegia 53, autosomal recessive, MIM# 614898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.148 VAMP1 Zornitza Stark changed review comment from: Spasticity is a prominent feature of this condition. Single founder variant in multiple families from Newfoundland.
Sources: Expert list; to: Spasticity is a prominent feature of this condition. Single founder variant in multiple families from Newfoundland. Bi-allelic variants cause a myasthenic syndrome.
Sources: Expert list
Hereditary Spastic Paraplegia - paediatric v0.148 VAMP1 Zornitza Stark Publications for gene: VAMP1 were set to
Hereditary Spastic Paraplegia - paediatric v0.147 VAMP1 Zornitza Stark Classified gene: VAMP1 as Amber List (moderate evidence)
Hereditary Spastic Paraplegia - paediatric v0.147 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia - paediatric v0.146 VAMP1 Zornitza Stark Tag founder tag was added to gene: VAMP1.
Hereditary Spastic Paraplegia - paediatric v0.146 VAMP1 Zornitza Stark changed review comment from: Spasticity is a prominent feature of this condition.
Sources: Expert list; to: Spasticity is a prominent feature of this condition. Single founder variant in multiple families from Newfoundland.
Sources: Expert list
Hereditary Spastic Paraplegia - paediatric v0.146 VAMP1 Zornitza Stark edited their review of gene: VAMP1: Changed rating: AMBER
Hereditary Spastic Paraplegia - paediatric v0.146 VAMP1 Zornitza Stark edited their review of gene: VAMP1: Changed publications: 22958904; Changed phenotypes: Spastic ataxia 1, autosomal dominant, MIM# 108600
Hereditary Spastic Paraplegia - paediatric v0.146 UNC80 Zornitza Stark Marked gene: UNC80 as ready
Hereditary Spastic Paraplegia - paediatric v0.146 UNC80 Zornitza Stark Gene: unc80 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia - paediatric v0.146 UNC80 Zornitza Stark Publications for gene: UNC80 were set to
Hereditary Spastic Paraplegia - paediatric v0.145 UNC80 Zornitza Stark Classified gene: UNC80 as Amber List (moderate evidence)
Hereditary Spastic Paraplegia - paediatric v0.145 UNC80 Zornitza Stark Gene: unc80 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia - paediatric v0.144 UNC80 Zornitza Stark reviewed gene: UNC80: Rating: AMBER; Mode of pathogenicity: None; Publications: 27513830; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.144 TTR Zornitza Stark Marked gene: TTR as ready
Hereditary Spastic Paraplegia - paediatric v0.144 TTR Zornitza Stark Gene: ttr has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia - paediatric v0.144 TTR Zornitza Stark Phenotypes for gene: TTR were changed from Amyloidogenic transthyretin amyloidosis to Amyloidosis, hereditary, transthyretin-related, MIM# 105210
Hereditary Spastic Paraplegia - paediatric v0.143 TTR Zornitza Stark Classified gene: TTR as Red List (low evidence)
Hereditary Spastic Paraplegia - paediatric v0.143 TTR Zornitza Stark Gene: ttr has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia - paediatric v0.142 TTR Zornitza Stark reviewed gene: TTR: Rating: RED; Mode of pathogenicity: None; Publications: 8960746; Phenotypes: Amyloidosis, hereditary, transthyretin-related, MIM# 105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3017 TECPR2 Zornitza Stark Marked gene: TECPR2 as ready
Intellectual disability syndromic and non-syndromic v0.3017 TECPR2 Zornitza Stark Gene: tecpr2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3017 TECPR2 Zornitza Stark Phenotypes for gene: TECPR2 were changed from to Spastic paraplegia 49, autosomal recessive, 615031; Autonomic-sensory neuropathy; Intellectual disability
Intellectual disability syndromic and non-syndromic v0.3016 TECPR2 Zornitza Stark Publications for gene: TECPR2 were set to
Intellectual disability syndromic and non-syndromic v0.3015 TECPR2 Zornitza Stark Mode of inheritance for gene: TECPR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3014 TECPR2 Zornitza Stark reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176824, 26542466; Phenotypes: Spastic paraplegia 49, autosomal recessive, 615031, Autonomic-sensory neuropathy, Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4516 TECPR2 Zornitza Stark Marked gene: TECPR2 as ready
Mendeliome v0.4516 TECPR2 Zornitza Stark Gene: tecpr2 has been classified as Green List (High Evidence).
Mendeliome v0.4516 TECPR2 Zornitza Stark Phenotypes for gene: TECPR2 were changed from to Spastic paraplegia 49, autosomal recessive, MIM# 615031; Autonomic-sensory neuropathy
Mendeliome v0.4515 TECPR2 Zornitza Stark Publications for gene: TECPR2 were set to
Mendeliome v0.4514 TECPR2 Zornitza Stark Mode of inheritance for gene: TECPR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4513 TECPR2 Zornitza Stark reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176824, 26542466; Phenotypes: Spastic paraplegia 49, autosomal recessive, MIM# 615031, Autonomic-sensory neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.142 TECPR2 Zornitza Stark Marked gene: TECPR2 as ready
Hereditary Spastic Paraplegia - paediatric v0.142 TECPR2 Zornitza Stark Gene: tecpr2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.142 TECPR2 Zornitza Stark Phenotypes for gene: TECPR2 were changed from Spastic paraplegia 49, autosomal recessive, 615031; Spastic paraplegia 49, autosomal recessive,615031, AR to Spastic paraplegia 49, autosomal recessive, 615031; Autonomic-sensory neuropathy
Hereditary Spastic Paraplegia - paediatric v0.141 TECPR2 Zornitza Stark Publications for gene: TECPR2 were set to
Hereditary Spastic Paraplegia - paediatric v0.140 TECPR2 Zornitza Stark reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176824, 26542466; Phenotypes: Spastic paraplegia 49, autosomal recessive, MIM# 615031; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.140 STXBP1 Zornitza Stark Classified gene: STXBP1 as Red List (low evidence)
Hereditary Spastic Paraplegia - paediatric v0.140 STXBP1 Zornitza Stark Gene: stxbp1 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia - paediatric v0.139 STXBP1 Zornitza Stark edited their review of gene: STXBP1: Changed rating: RED
Hereditary Spastic Paraplegia - paediatric v0.139 STXBP1 Zornitza Stark Marked gene: STXBP1 as ready
Hereditary Spastic Paraplegia - paediatric v0.139 STXBP1 Zornitza Stark Gene: stxbp1 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia - paediatric v0.139 STXBP1 Zornitza Stark Phenotypes for gene: STXBP1 were changed from Early infantile epileptic encephalopathy 4 to Spasticity; Early infantile epileptic encephalopathy 4
Hereditary Spastic Paraplegia - paediatric v0.138 STXBP1 Zornitza Stark Publications for gene: STXBP1 were set to
Hereditary Spastic Paraplegia - paediatric v0.137 STXBP1 Zornitza Stark Classified gene: STXBP1 as Amber List (moderate evidence)
Hereditary Spastic Paraplegia - paediatric v0.137 STXBP1 Zornitza Stark Gene: stxbp1 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia - paediatric v0.136 STXBP1 Zornitza Stark reviewed gene: STXBP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32815282; Phenotypes: Spasticity; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - paediatric v0.136 SOX10 Zornitza Stark Marked gene: SOX10 as ready
Hereditary Spastic Paraplegia - paediatric v0.136 SOX10 Zornitza Stark Gene: sox10 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia - paediatric v0.136 SOX10 Zornitza Stark Mode of inheritance for gene: SOX10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - paediatric v0.135 SOX10 Zornitza Stark Classified gene: SOX10 as Amber List (moderate evidence)
Hereditary Spastic Paraplegia - paediatric v0.135 SOX10 Zornitza Stark Gene: sox10 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia - paediatric v0.134 SOX10 Zornitza Stark reviewed gene: SOX10: Rating: AMBER; Mode of pathogenicity: None; Publications: 28534044; Phenotypes: PCWH syndrome, MIM# 609136; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - paediatric v0.134 SARS2 Zornitza Stark Marked gene: SARS2 as ready
Hereditary Spastic Paraplegia - paediatric v0.134 SARS2 Zornitza Stark Gene: sars2 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia - paediatric v0.134 SARS2 Zornitza Stark gene: SARS2 was added
gene: SARS2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature
Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SARS2 were set to 27279129
Phenotypes for gene: SARS2 were set to Progressive spastic paraplegia
Review for gene: SARS2 was set to RED
Added comment: Single individual reported with homozygous splicing mutation in SARS2 and with progressive spastic paresis rather than HUPRA syndrome (hyperuricemia, pulmonary hypertension, renal failure in infancy, and alkalosis) which is generally associated with missense variants in this gene.
Sources: Literature
Hereditary Spastic Paraplegia - paediatric v0.133 SAMHD1 Zornitza Stark Marked gene: SAMHD1 as ready
Hereditary Spastic Paraplegia - paediatric v0.133 SAMHD1 Zornitza Stark Gene: samhd1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.133 SAMHD1 Zornitza Stark Phenotypes for gene: SAMHD1 were changed from Aicardi Goutieres syndrome 5 to Aicardi Goutieres syndrome 5, MIM# 612952
Hereditary Spastic Paraplegia - paediatric v0.132 SAMHD1 Zornitza Stark reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 5, MIM# 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.132 RNASEH2B Zornitza Stark Marked gene: RNASEH2B as ready
Hereditary Spastic Paraplegia - paediatric v0.132 RNASEH2B Zornitza Stark Gene: rnaseh2b has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.132 RNASEH2B Zornitza Stark Phenotypes for gene: RNASEH2B were changed from Aicardi Goutieres syndrome 2 to Aicardi Goutieres syndrome 2, MIM# 610181
Hereditary Spastic Paraplegia - paediatric v0.131 RNASEH2B Zornitza Stark Publications for gene: RNASEH2B were set to
Hereditary Spastic Paraplegia - paediatric v0.130 RNASEH2B Zornitza Stark reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29691679, 30223285, 29239743, 28762473; Phenotypes: Aicardi-Goutieres syndrome 2, MIM# 610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4513 SMOC2 Zornitza Stark Marked gene: SMOC2 as ready
Mendeliome v0.4513 SMOC2 Zornitza Stark Gene: smoc2 has been classified as Green List (High Evidence).
Mendeliome v0.4513 SMOC2 Zornitza Stark Phenotypes for gene: SMOC2 were changed from to Dentin dysplasia, type I, with microdontia and misshapen teeth, MIM# 125400
Mendeliome v0.4512 SMOC2 Zornitza Stark Publications for gene: SMOC2 were set to
Mendeliome v0.4511 SMOC2 Zornitza Stark Mode of inheritance for gene: SMOC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4510 SMOC2 Zornitza Stark reviewed gene: SMOC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152679, 23317772, 32908163; Phenotypes: Dentin dysplasia, type I, with microdontia and misshapen teeth, MIM# 125400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - adult onset v0.25 POLR3A Zornitza Stark Marked gene: POLR3A as ready
Hereditary Spastic Paraplegia - adult onset v0.25 POLR3A Zornitza Stark Gene: polr3a has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.25 POLR3A Zornitza Stark Tag deep intronic tag was added to gene: POLR3A.
Hereditary Spastic Paraplegia - adult onset v0.25 POLR3A Zornitza Stark Phenotypes for gene: POLR3A were changed from Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Autosomal Recessive Ataxia to Spastic ataxia
Hereditary Spastic Paraplegia - adult onset v0.24 POLR3A Zornitza Stark Publications for gene: POLR3A were set to
Hereditary Spastic Paraplegia - adult onset v0.23 POLR3A Zornitza Stark reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31637490; Phenotypes: Spastic ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.130 PCYT2 Zornitza Stark Marked gene: PCYT2 as ready
Hereditary Spastic Paraplegia - paediatric v0.130 PCYT2 Zornitza Stark Gene: pcyt2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.130 PCYT2 Zornitza Stark Classified gene: PCYT2 as Green List (high evidence)
Hereditary Spastic Paraplegia - paediatric v0.130 PCYT2 Zornitza Stark Gene: pcyt2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.129 PCYT2 Zornitza Stark gene: PCYT2 was added
gene: PCYT2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCYT2 were set to 31637422
Phenotypes for gene: PCYT2 were set to global developmental delay; regression; spastic parapesis or tetraparesis; epilepsy; progressive cerebral and cerebellar atrophy
Review for gene: PCYT2 was set to GREEN
Added comment: Biallelic hypomorph variants in 5 affected cases from 4 families with complicated hereditary spastic paraplegia, onset between 2 and 16 years of age. Zebrafish model similar to previous HSP zebrafish models.
Sources: Expert list
Ataxia - paediatric v0.259 MAG Zornitza Stark Marked gene: MAG as ready
Ataxia - paediatric v0.259 MAG Zornitza Stark Gene: mag has been classified as Green List (High Evidence).
Ataxia - paediatric v0.259 MAG Zornitza Stark Classified gene: MAG as Green List (high evidence)
Ataxia - paediatric v0.259 MAG Zornitza Stark Gene: mag has been classified as Green List (High Evidence).
Ataxia - paediatric v0.258 MAG Zornitza Stark gene: MAG was added
gene: MAG was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: MAG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAG were set to 32629324; 32340215
Phenotypes for gene: MAG were set to Spastic paraplegia 75, autosomal recessive, MIM# 616680; Cerebellar ataxia; Oculomotor apraxia
Review for gene: MAG was set to GREEN
Added comment: At least 5 families reported where ataxia was a prominent feature.
Sources: Literature
Mendeliome v0.4510 MAG Zornitza Stark Marked gene: MAG as ready
Mendeliome v0.4510 MAG Zornitza Stark Gene: mag has been classified as Green List (High Evidence).
Mendeliome v0.4510 MAG Zornitza Stark Phenotypes for gene: MAG were changed from to Spastic paraplegia 75, autosomal recessive, MIM# 616680
Mendeliome v0.4509 MAG Zornitza Stark Publications for gene: MAG were set to
Mendeliome v0.4508 MAG Zornitza Stark Mode of inheritance for gene: MAG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4507 MAG Zornitza Stark reviewed gene: MAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 26179919, 31402626, 32629324; Phenotypes: Spastic paraplegia 75, autosomal recessive, MIM# 616680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.128 MAG Zornitza Stark Marked gene: MAG as ready
Hereditary Spastic Paraplegia - paediatric v0.128 MAG Zornitza Stark Gene: mag has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.128 MAG Zornitza Stark Publications for gene: MAG were set to 31402626; 24482476; 26179919
Hereditary Spastic Paraplegia - paediatric v0.127 MAG Zornitza Stark reviewed gene: MAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 26179919, 31402626, 32629324; Phenotypes: Spastic paraplegia 75, autosomal recessive, MIM# 616680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.127 GAN Zornitza Stark Marked gene: GAN as ready
Hereditary Spastic Paraplegia - paediatric v0.127 GAN Zornitza Stark Gene: gan has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.127 GAN Zornitza Stark Phenotypes for gene: GAN were changed from Giant axonal neuropathy to Giant axonal neuropathy-1, MIM# 256850
Hereditary Spastic Paraplegia - paediatric v0.126 GAN Zornitza Stark Publications for gene: GAN were set to 26381321
Hereditary Spastic Paraplegia - paediatric v0.125 GAN Zornitza Stark reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: None; Publications: 11062483; Phenotypes: Giant axonal neuropathy-1, MIM# 256850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.125 EXOSC3 Zornitza Stark Marked gene: EXOSC3 as ready
Hereditary Spastic Paraplegia - paediatric v0.125 EXOSC3 Zornitza Stark Gene: exosc3 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia - paediatric v0.125 EXOSC3 Zornitza Stark Phenotypes for gene: EXOSC3 were changed from Pontocerebellar hypoplasia, type 1b to Pontocerebellar hypoplasia, type 1b; Complicated hereditary spastic paraplegia
Mendeliome v0.4507 DSTYK Zornitza Stark Tag SV/CNV tag was added to gene: DSTYK.
Mendeliome v0.4507 DSTYK Zornitza Stark Marked gene: DSTYK as ready
Mendeliome v0.4507 DSTYK Zornitza Stark Gene: dstyk has been classified as Green List (High Evidence).
Mendeliome v0.4507 DSTYK Zornitza Stark Phenotypes for gene: DSTYK were changed from to Congenital anomalies of kidney and urinary tract 1, MIM# 610805; Spastic paraplegia 23, MIM# 270750
Mendeliome v0.4506 DSTYK Zornitza Stark Publications for gene: DSTYK were set to
Mendeliome v0.4505 DSTYK Zornitza Stark Mode of inheritance for gene: DSTYK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.4504 DSTYK Zornitza Stark reviewed gene: DSTYK: Rating: GREEN; Mode of pathogenicity: None; Publications: 23862974, 23862974, 28618409, 28157540, 23862974; Phenotypes: Congenital anomalies of kidney and urinary tract 1, MIM# 610805, Spastic paraplegia 23, MIM# 270750; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.4504 ZMYM2 Zornitza Stark Marked gene: ZMYM2 as ready
Mendeliome v0.4504 ZMYM2 Zornitza Stark Gene: zmym2 has been classified as Green List (High Evidence).
Mendeliome v0.4504 ZMYM2 Zornitza Stark Classified gene: ZMYM2 as Green List (high evidence)
Mendeliome v0.4504 ZMYM2 Zornitza Stark Gene: zmym2 has been classified as Green List (High Evidence).
Mendeliome v0.4503 ZMYM2 Zornitza Stark gene: ZMYM2 was added
gene: ZMYM2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ZMYM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMYM2 were set to 32891193
Phenotypes for gene: ZMYM2 were set to Congenital anomalies of kidney and urinary tract; Neurodevelopmental disorder
Review for gene: ZMYM2 was set to GREEN
Added comment: Heterozygous pathogenic (pLoF) ZMYM2 variants have been reported in individuals with syndromic presentation including CAKUT (in several cases) and variable neurological manifestations among extra-renal features.

--

Connaughton et al (2020 - PMID: 32891193) report on 19 individuals (from 15 unrelated families) with heterozygous pathogenic ZMYM2 variants.

Affected individuals from 7 families presented with CAKUT while all of them displayed extra-renal features. Neurological manifestations were reported in 16 individuals from 14 families (data not available for 1 fam), among others hypotonia (3/14 fam), speech delay (4/14 fam), global DD (9/14 fam), ID (4/14 fam), microcephaly (4/14 fam). ASD was reported in 4 fam (4 indiv). Seizures were reported in 2 fam (2 indiv). Variable other features included cardiac defects, facial dysmorphisms, small hands and feet with dys-/hypo-plastic nails and clinodactyly.

14 pLoF variants were identified, in most cases as de novo events (8 fam). In 2 families the variant was inherited from an affected parent. Germline mosaicism occurred in 1 family.

The human disease features were recapitulated in a X. tropicalis morpholino knockdown, with expression of truncating variants failing to rescue renal and craniofacial defects. Heterozygous Zmym2-deficient mice also recapitulated the features of CAKUT.

ZMYM2 (previously ZNF198) encodes a nuclear zinc finger protein localizing to the nucleus (and PML nuclear body).

It has previously been identified as transcriptional corepressor interacting with nuclear receptors and the LSD1-CoREST-HDAC1 complex. It has also been shown to interact with FOXP transcription factors.

The authors provide evidence for loss of interaction of the truncated ZMYM2 with FOXP1 (mutations in the latter having recently been reported in syndromic CAKUT).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3014 ZMYM2 Zornitza Stark edited their review of gene: ZMYM2: Changed rating: GREEN; Changed publications: 32891193; Changed phenotypes: Congenital anomalies of kidney and urinary tract, Neurodevelopmental disorder; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3014 ZMYM2 Zornitza Stark Marked gene: ZMYM2 as ready
Intellectual disability syndromic and non-syndromic v0.3014 ZMYM2 Zornitza Stark Added comment: Comment when marking as ready: Syndromic CAKUT, variable extra-renal phenotype but sufficient families with ID for Green rating.
Intellectual disability syndromic and non-syndromic v0.3014 ZMYM2 Zornitza Stark Gene: zmym2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3014 ZMYM2 Zornitza Stark Classified gene: ZMYM2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3014 ZMYM2 Zornitza Stark Gene: zmym2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.69 ZMYM2 Zornitza Stark Marked gene: ZMYM2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.69 ZMYM2 Zornitza Stark Gene: zmym2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.69 ZMYM2 Zornitza Stark Classified gene: ZMYM2 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.69 ZMYM2 Zornitza Stark Gene: zmym2 has been classified as Green List (High Evidence).
Mandibulofacial Acrofacial dysostosis v0.16 MTX2 Zornitza Stark Marked gene: MTX2 as ready
Mandibulofacial Acrofacial dysostosis v0.16 MTX2 Zornitza Stark Gene: mtx2 has been classified as Green List (High Evidence).
Mandibulofacial Acrofacial dysostosis v0.16 MTX2 Zornitza Stark Classified gene: MTX2 as Green List (high evidence)
Mandibulofacial Acrofacial dysostosis v0.16 MTX2 Zornitza Stark Gene: mtx2 has been classified as Green List (High Evidence).
Mandibulofacial Acrofacial dysostosis v0.15 MTX2 Zornitza Stark gene: MTX2 was added
gene: MTX2 was added to Mandibulofacial Acrofacial dysostosis. Sources: Literature
Mode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTX2 were set to 32917887
Phenotypes for gene: MTX2 were set to Mandibuloacral dysplasia; lipodystrophy; arterial calcification
Review for gene: MTX2 was set to GREEN
Added comment: Seven individuals from 5 unrelated families reported with severe progeroid form of MAD with growth retardation, small viscerocranium with mandibular underdevelopment, distal acro-osteolyses, lipodystrophy, altered skin pigmentation, renal focal glomerulosclerosis, and extremely severe hypertension in most cases, eventually associated with disseminated arterial calcification. Loss of MTX2 in patients' primary fibroblasts led to loss of Metaxin-1 (MTX1) and mitochondrial dysfunction, including network fragmentation and oxidative phosphorylation impairment. Furthermore, patients' fibroblasts were resistant to induced apoptosis, leading to increased cell senescence and mitophagy and reduced proliferation.
Sources: Literature
Skeletal dysplasia v0.46 MTX2 Zornitza Stark Marked gene: MTX2 as ready
Skeletal dysplasia v0.46 MTX2 Zornitza Stark Gene: mtx2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.46 MTX2 Zornitza Stark Classified gene: MTX2 as Green List (high evidence)
Skeletal dysplasia v0.46 MTX2 Zornitza Stark Gene: mtx2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.45 MTX2 Zornitza Stark gene: MTX2 was added
gene: MTX2 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTX2 were set to 32917887
Phenotypes for gene: MTX2 were set to Mandibuloacral dysplasia; lipodystrophy; arterial calcification
Review for gene: MTX2 was set to GREEN
Added comment: Seven individuals from 5 unrelated families reported with severe progeroid form of MAD with growth retardation, small viscerocranium with mandibular underdevelopment, distal acro-osteolyses, lipodystrophy, altered skin pigmentation, renal focal glomerulosclerosis, and extremely severe hypertension in most cases, eventually associated with disseminated arterial calcification. Loss of MTX2 in patients' primary fibroblasts led to loss of Metaxin-1 (MTX1) and mitochondrial dysfunction, including network fragmentation and oxidative phosphorylation impairment. Furthermore, patients' fibroblasts were resistant to induced apoptosis, leading to increased cell senescence and mitophagy and reduced proliferation.
Sources: Literature
Lipodystrophy_Lipoatrophy v0.6 MTX2 Zornitza Stark Marked gene: MTX2 as ready
Lipodystrophy_Lipoatrophy v0.6 MTX2 Zornitza Stark Gene: mtx2 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.6 MTX2 Zornitza Stark Classified gene: MTX2 as Green List (high evidence)
Lipodystrophy_Lipoatrophy v0.6 MTX2 Zornitza Stark Gene: mtx2 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.5 MTX2 Zornitza Stark gene: MTX2 was added
gene: MTX2 was added to Lipodystrophy_Lipoatrophy. Sources: Literature
Mode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTX2 were set to 32917887
Phenotypes for gene: MTX2 were set to Mandibuloacral dysplasia; lipodystrophy; arterial calcification
Review for gene: MTX2 was set to GREEN
Added comment: Seven individuals from 5 unrelated families reported with severe progeroid form of MAD with growth retardation, small viscerocranium with mandibular underdevelopment, distal acro-osteolyses, lipodystrophy, altered skin pigmentation, renal focal glomerulosclerosis, and extremely severe hypertension in most cases, eventually associated with disseminated arterial calcification. Loss of MTX2 in patients' primary fibroblasts led to loss of Metaxin-1 (MTX1) and mitochondrial dysfunction, including network fragmentation and oxidative phosphorylation impairment. Furthermore, patients' fibroblasts were resistant to induced apoptosis, leading to increased cell senescence and mitophagy and reduced proliferation.
Sources: Literature
Mendeliome v0.4502 MTX2 Zornitza Stark Marked gene: MTX2 as ready
Mendeliome v0.4502 MTX2 Zornitza Stark Gene: mtx2 has been classified as Green List (High Evidence).
Mendeliome v0.4502 MTX2 Zornitza Stark Classified gene: MTX2 as Green List (high evidence)
Mendeliome v0.4502 MTX2 Zornitza Stark Gene: mtx2 has been classified as Green List (High Evidence).
Mendeliome v0.4501 MTX2 Zornitza Stark gene: MTX2 was added
gene: MTX2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTX2 were set to 32917887
Phenotypes for gene: MTX2 were set to Mandibuloacral dysplasia; lipodystrophy; arterial calcification
Review for gene: MTX2 was set to GREEN
Added comment: Seven individuals from 5 unrelated families reported with severe progeroid form of MAD with growth retardation, small viscerocranium with mandibular underdevelopment, distal acro-osteolyses, lipodystrophy, altered skin pigmentation, renal focal glomerulosclerosis, and extremely severe hypertension in most cases, eventually associated with disseminated arterial calcification. Loss of MTX2 in patients' primary fibroblasts led to loss of Metaxin-1 (MTX1) and mitochondrial dysfunction, including network fragmentation and oxidative phosphorylation impairment. Furthermore, patients' fibroblasts were resistant to induced apoptosis, leading to increased cell senescence and mitophagy and reduced proliferation.
Sources: Literature
Rasopathy v0.87 RREB1 Zornitza Stark Marked gene: RREB1 as ready
Rasopathy v0.87 RREB1 Zornitza Stark Gene: rreb1 has been classified as Red List (Low Evidence).
Rasopathy v0.87 RREB1 Zornitza Stark Tag SV/CNV tag was added to gene: RREB1.
Rasopathy v0.87 RREB1 Zornitza Stark gene: RREB1 was added
gene: RREB1 was added to Rasopathy. Sources: Literature
Mode of inheritance for gene: RREB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RREB1 were set to 32938917
Phenotypes for gene: RREB1 were set to Noonan syndrome-like disorder
Review for gene: RREB1 was set to RED
Added comment: Single individual reported with Noonan syndrome-like features and a deletion encompassing RREB1. Overlapping deletions in publicly reported databases examined, and RREB1 postulated to be the key gene. Rreb1 hemizygous mice display orbital hypertelorism and age dependent cardiac hypertrophy. RREB1 recruits SIN3A and KDM1A to an RRE in target promoters in human and murine cells to control histone H3K4 methylation of MAPK pathway genes. In summary, single well phenotyped individual with a CNV and experimental data to support gene-disease association.
Sources: Literature
Mendeliome v0.4500 RREB1 Zornitza Stark Marked gene: RREB1 as ready
Mendeliome v0.4500 RREB1 Zornitza Stark Gene: rreb1 has been classified as Red List (Low Evidence).
Mendeliome v0.4500 RREB1 Zornitza Stark gene: RREB1 was added
gene: RREB1 was added to Mendeliome. Sources: Literature
SV/CNV tags were added to gene: RREB1.
Mode of inheritance for gene: RREB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RREB1 were set to 32938917
Phenotypes for gene: RREB1 were set to Noonan syndrome-like disorder
Review for gene: RREB1 was set to RED
Added comment: Single individual reported with Noonan syndrome-like features and a deletion encompassing RREB1. Overlapping deletions in publicly reported databases examined, and RREB1 postulated to be the key gene. Rreb1 hemizygous mice display orbital hypertelorism and age dependent cardiac hypertrophy. RREB1 recruits SIN3A and KDM1A to an RRE in target promoters in human and murine cells to control histone H3K4 methylation of MAPK pathway genes.

In summary, single well phenotyped individual with a CNV and experimental data to support gene-disease association.
Sources: Literature
Combined Immunodeficiency v0.165 FNIP1 Zornitza Stark Marked gene: FNIP1 as ready
Combined Immunodeficiency v0.165 FNIP1 Zornitza Stark Gene: fnip1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.165 FNIP1 Zornitza Stark Classified gene: FNIP1 as Green List (high evidence)
Combined Immunodeficiency v0.165 FNIP1 Zornitza Stark Gene: fnip1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.164 FNIP1 Zornitza Stark gene: FNIP1 was added
gene: FNIP1 was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: FNIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FNIP1 were set to 32181500; 32905580
Phenotypes for gene: FNIP1 were set to Hypertrophic Cardiomyopathy; Primary Immunodeficiency; Agammaglobulinemia; Neutropenia
Review for gene: FNIP1 was set to GREEN
Added comment: - PMID: 32181500 (2020) - Three patients from two independent consanguineous families with homozygous variants (c.3353G>A, p.Ser1118Asn and c.1289delA, p.His430Profs7*) in the FNIP1 gene. Both variants segregated with the disease phenotype in each family. Clinically, patients presented with combined immunodeficiency, cardiac findings (hypertrophic cardiomyopathy, Wolff‐Parkinson‐White syndrome), and myopathy of skeletal muscles with motor DD. Authors note phenotypic overlap with the murine model of FNIP1 deficiency, but no functional analyses of the variants or patient cells were performed.

- PMID: 32905580 (2020) - Three cases from unrelated families, all harbouring novel biallelic variants in FNIP1. Clinical manifestations in all patients include hypertrophic cardiomyopathy, severe and/or recurrent infections, absent circulating B-cells, and agammaglobulinemia; as well as either severe or intermittent neutropenia in two cases. Functional studies showed impairment of B-cell metabolism, including disruptions to mitochondrial numbers/activity and the PI3K/AKT pathway.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.68 ZMYM2 Konstantinos Varvagiannis gene: ZMYM2 was added
gene: ZMYM2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: ZMYM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZMYM2 were set to 32891193
Phenotypes for gene: ZMYM2 were set to Abnormality of the urinary system; Global developmental delay; Intellectual disability; Microcephaly; Abnormality of the cardiovascular system; Autism; Seizures; Abnormality of the head or neck; Abnormality of the nail; Small hand; Short foot; Clinodactyly
Penetrance for gene: ZMYM2 were set to unknown
Review for gene: ZMYM2 was set to GREEN
Added comment: Heterozygous pathogenic (pLoF) ZMYM2 variants have been reported in individuals with syndromic presentation including CAKUT (in several cases) and variable neurological manifestations among extra-renal features. DD and ID were reported in some of the families described to date as summarized below. You might consider inclusion with green/amber rating in the ID panel and green in the panel for CAKUT.

--

Connaughton et al (2020 - PMID: 32891193) report on 19 individuals (from 15 unrelated families) with heterozygous pathogenic ZMYM2 variants. [Article not reviewed in detail].

Affected individuals from 7 families presented with CAKUT while all of them displayed extra-renal features. Neurological manifestations were reported in 16 individuals from 14 families (data not available for 1 fam), among others hypotonia (3/14 fam), speech delay (4/14 fam), global DD (9/14 fam), ID (4/14 fam), microcephaly (4/14 fam). ASD was reported in 4 fam (4 indiv). Seizures were reported in 2 fam (2 indiv). Variable other features included cardiac defects, facial dysmorphisms, small hands and feet with dys-/hypo-plastic nails and clinodactyly.

14 pLoF variants were identified, in most cases as de novo events (8 fam). In 2 families the variant was inherited from an affected parent. Germline mosaicism occurred in 1 family.

The human disease features were recapitulated in a X. tropicalis morpholino knockdown, with expression of truncating variants failing to rescue renal and craniofacial defects. Heterozygous Zmym2-deficient mice also recapitulated the features of CAKUT.

ZMYM2 (previously ZNF198) encodes a nuclear zinc finger protein localizing to the nucleus (and PML nuclear body).

It has previously been identified as transcriptional corepressor interacting with nuclear receptors and the LSD1-CoREST-HDAC1 complex. It has also been shown to interact with FOXP transcription factors.

The authors provide evidence for loss of interaction of the truncated ZMYM2 with FOXP1 (mutations in the latter having recently been reported in syndromic CAKUT).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3013 ZMYM2 Konstantinos Varvagiannis gene: ZMYM2 was added
gene: ZMYM2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ZMYM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZMYM2 were set to 32891193
Phenotypes for gene: ZMYM2 were set to Abnormality of the urinary system; Global developmental delay; Intellectual disability; Microcephaly; Abnormality of the cardiovascular system; Autism; Seizures; Abnormality of the head or neck; Abnormality of the nail; Small hand; Short foot; Clinodactyly
Penetrance for gene: ZMYM2 were set to unknown
Review for gene: ZMYM2 was set to AMBER
Added comment: Heterozygous pathogenic (pLoF) ZMYM2 variants have been reported in individuals with syndromic presentation including CAKUT (in several cases) and variable neurological manifestations among extra-renal features. DD and ID were reported in some of the families described to date as summarized below. You might consider inclusion with green/amber rating in the ID panel and green in the panel for CAKUT.

--

Connaughton et al (2020 - PMID: 32891193) report on 19 individuals (from 15 unrelated families) with heterozygous pathogenic ZMYM2 variants. [Article not reviewed in detail].

Affected individuals from 7 families presented with CAKUT while all of them displayed extra-renal features. Neurological manifestations were reported in 16 individuals from 14 families (data not available for 1 fam), among others hypotonia (3/14 fam), speech delay (4/14 fam), global DD (9/14 fam), ID (4/14 fam), microcephaly (4/14 fam). ASD was reported in 4 fam (4 indiv). Seizures were reported in 2 fam (2 indiv). Variable other features included cardiac defects, facial dysmorphisms, small hands and feet with dys-/hypo-plastic nails and clinodactyly.

14 pLoF variants were identified, in most cases as de novo events (8 fam). In 2 families the variant was inherited from an affected parent. Germline mosaicism occurred in 1 family.

The human disease features were recapitulated in a X. tropicalis morpholino knockdown, with expression of truncating variants failing to rescue renal and craniofacial defects. Heterozygous Zmym2-deficient mice also recapitulated the features of CAKUT.

ZMYM2 (previously ZNF198) encodes a nuclear zinc finger protein localizing to the nucleus (and PML nuclear body).

It has previously been identified as transcriptional corepressor interacting with nuclear receptors and the LSD1-CoREST-HDAC1 complex. It has also been shown to interact with FOXP transcription factors.

The authors provide evidence for loss of interaction of the truncated ZMYM2 with FOXP1 (mutations in the latter having recently been reported in syndromic CAKUT).
Sources: Literature
Cardiomyopathy_Paediatric v0.11 FNIP1 Zornitza Stark Marked gene: FNIP1 as ready
Cardiomyopathy_Paediatric v0.11 FNIP1 Zornitza Stark Gene: fnip1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.11 FNIP1 Zornitza Stark Classified gene: FNIP1 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.11 FNIP1 Zornitza Stark Gene: fnip1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.10 FNIP1 Zornitza Stark gene: FNIP1 was added
gene: FNIP1 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: FNIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FNIP1 were set to 32181500; 32905580
Phenotypes for gene: FNIP1 were set to Hypertrophic Cardiomyopathy; Primary Immunodeficiency; Agammaglobulinemia; Neutropenia
Review for gene: FNIP1 was set to GREEN
Added comment: - PMID: 32181500 (2020) - Three patients from two independent consanguineous families with homozygous variants (c.3353G>A, p.Ser1118Asn and c.1289delA, p.His430Profs7*) in the FNIP1 gene. Both variants segregated with the disease phenotype in each family. Clinically, patients presented with combined immunodeficiency, cardiac findings (hypertrophic cardiomyopathy, Wolff‐Parkinson‐White syndrome), and myopathy of skeletal muscles with motor DD. Authors note phenotypic overlap with the murine model of FNIP1 deficiency, but no functional analyses of the variants or patient cells were performed.

- PMID: 32905580 (2020) - Three cases from unrelated families, all harbouring novel biallelic variants in FNIP1. Clinical manifestations in all patients include hypertrophic cardiomyopathy, severe and/or recurrent infections, absent circulating B-cells, and agammaglobulinemia; as well as either severe or intermittent neutropenia in two cases. Functional studies showed impairment of B-cell metabolism, including disruptions to mitochondrial numbers/activity and the PI3K/AKT pathway.
Sources: Literature
Mendeliome v0.4499 FNIP1 Zornitza Stark Marked gene: FNIP1 as ready
Mendeliome v0.4499 FNIP1 Zornitza Stark Gene: fnip1 has been classified as Green List (High Evidence).
Mendeliome v0.4499 FNIP1 Zornitza Stark Classified gene: FNIP1 as Green List (high evidence)
Mendeliome v0.4499 FNIP1 Zornitza Stark Gene: fnip1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.79 NEMF Zornitza Stark Marked gene: NEMF as ready
Hereditary Neuropathy - complex v0.79 NEMF Zornitza Stark Gene: nemf has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.79 NEMF Zornitza Stark Classified gene: NEMF as Green List (high evidence)
Hereditary Neuropathy - complex v0.79 NEMF Zornitza Stark Gene: nemf has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.78 NEMF Zornitza Stark gene: NEMF was added
gene: NEMF was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: NEMF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEMF were set to 32934225
Phenotypes for gene: NEMF were set to Intellectual disability; neuropathy
Review for gene: NEMF was set to GREEN
Added comment: Nine individuals from 7 unrelated families reported with a mixed CNS/PNS phenotype. 7/9 had ID, 4/9 had formal assessments demonstrating axonal neuropathy, 3/9 had ataxia; muscular atrophy, hypotonia, respiratory distress, scoliosis also described in some. Three independently generated mouse models had progressive motor neuron degeneration.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3013 NEMF Zornitza Stark Marked gene: NEMF as ready
Intellectual disability syndromic and non-syndromic v0.3013 NEMF Zornitza Stark Gene: nemf has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3013 NEMF Zornitza Stark Classified gene: NEMF as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3013 NEMF Zornitza Stark Gene: nemf has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3012 NEMF Zornitza Stark gene: NEMF was added
gene: NEMF was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NEMF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEMF were set to 32934225
Phenotypes for gene: NEMF were set to Intellectual disability; neuropathy
Review for gene: NEMF was set to GREEN
Added comment: Nine individuals from 7 unrelated families reported with a mixed CNS/PNS phenotype. 7/9 had ID, 4/9 had formal assessments demonstrating axonal neuropathy, 3/9 had ataxia; muscular atrophy, hypotonia, respiratory distress, scoliosis also described in some. Three independently generated mouse models had progressive motor neuron degeneration.
Sources: Literature
Mendeliome v0.4498 NEMF Zornitza Stark Marked gene: NEMF as ready
Mendeliome v0.4498 NEMF Zornitza Stark Gene: nemf has been classified as Green List (High Evidence).
Mendeliome v0.4498 NEMF Zornitza Stark Classified gene: NEMF as Green List (high evidence)
Mendeliome v0.4498 NEMF Zornitza Stark Gene: nemf has been classified as Green List (High Evidence).
Mendeliome v0.4497 NEMF Zornitza Stark gene: NEMF was added
gene: NEMF was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NEMF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEMF were set to 32934225
Phenotypes for gene: NEMF were set to Intellectual disability; neuropathy
Review for gene: NEMF was set to GREEN
Added comment: Nine individuals from 7 unrelated families reported with a mixed CNS/PNS phenotype. 7/9 had ID, 4/9 had formal assessments demonstrating axonal neuropathy, 3/9 had ataxia; muscular atrophy, hypotonia, respiratory distress, scoliosis also described in some. Three independently generated mouse models had progressive motor neuron degeneration.
Sources: Literature
Mendeliome v0.4496 FNIP1 Arina Puzriakova gene: FNIP1 was added
gene: FNIP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FNIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FNIP1 were set to 32181500; 32905580
Phenotypes for gene: FNIP1 were set to Hypertrophic Cardiomyopathy; Primary Immunodeficiency; Agammaglobulinemia; Neutropenia
Review for gene: FNIP1 was set to GREEN
Added comment: - PMID: 32181500 (2020) - Three patients from two independent consanguineous families with homozygous variants (c.3353G>A, p.Ser1118Asn and c.1289delA, p.His430Profs7*) in the FNIP1 gene. Both variants segregated with the disease phenotype in each family. Clinically, patients presented with combined immunodeficiency, cardiac findings (hypertrophic cardiomyopathy, Wolff‐Parkinson‐White syndrome), and myopathy of skeletal muscles with motor DD. Authors note phenotypic overlap with the murine model of FNIP1 deficiency, but no functional analyses of the variants or patient cells were performed.

- PMID: 32905580 (2020) - Three cases from unrelated families, all harbouring novel biallelic variants in FNIP1. Clinical manifestations in all patients include hypertrophic cardiomyopathy, severe and/or recurrent infections, absent circulating B-cells, and agammaglobulinemia; as well as either severe or intermittent neutropenia in two cases. Functional studies showed impairment of B-cell metabolism, including disruptions to mitochondrial numbers/activity and the PI3K/AKT pathway.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.77 DSTYK Zornitza Stark Marked gene: DSTYK as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.77 DSTYK Zornitza Stark Gene: dstyk has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.77 DSTYK Zornitza Stark Phenotypes for gene: DSTYK were changed from to Congenital anomalies of kidney and urinary tract 1, MIM# 610805
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.76 DSTYK Zornitza Stark Publications for gene: DSTYK were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.75 DSTYK Zornitza Stark Mode of inheritance for gene: DSTYK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.74 DSTYK Zornitza Stark reviewed gene: DSTYK: Rating: GREEN; Mode of pathogenicity: None; Publications: 23862974, 23862974, 28618409; Phenotypes: Congenital anomalies of kidney and urinary tract 1, MIM# 610805; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mackenzie's Mission_Reproductive Carrier Screening v0.23 DSTYK Zornitza Stark reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: None; Publications: 28157540, 23862974; Phenotypes: Spastic paraplegia 23, MIM# 270750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.124 DSTYK Zornitza Stark Tag SV/CNV tag was added to gene: DSTYK.
Tag founder tag was added to gene: DSTYK.
Hereditary Spastic Paraplegia - paediatric v0.124 DSTYK Zornitza Stark Marked gene: DSTYK as ready
Hereditary Spastic Paraplegia - paediatric v0.124 DSTYK Zornitza Stark Gene: dstyk has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia - paediatric v0.124 DSTYK Zornitza Stark Phenotypes for gene: DSTYK were changed from Congenital anomalies of kidney and urinary tract 1, 610805, AD; Spastic paraplegia 23, 270750; Spastic paraplegia 23, 270750, AR to Spastic paraplegia 23, MIM#270750
Hereditary Spastic Paraplegia - paediatric v0.123 DSTYK Zornitza Stark Publications for gene: DSTYK were set to
Hereditary Spastic Paraplegia - paediatric v0.122 DSTYK Zornitza Stark Mode of inheritance for gene: DSTYK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.121 DSTYK Zornitza Stark Classified gene: DSTYK as Amber List (moderate evidence)
Hereditary Spastic Paraplegia - paediatric v0.121 DSTYK Zornitza Stark Gene: dstyk has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia - paediatric v0.120 DSTYK Zornitza Stark reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: None; Publications: 28157540, 23862974; Phenotypes: Spastic paraplegia 23, MIM# 270750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - adult onset v0.23 CAPN1 Zornitza Stark changed review comment from: 8 individuals from three families reported.
Sources: Expert list; to: 8 individuals from three families reported, predominantly young adult onset.
Sources: Expert list
Mendeliome v0.4496 TAOK1 Zornitza Stark Marked gene: TAOK1 as ready
Mendeliome v0.4496 TAOK1 Zornitza Stark Gene: taok1 has been classified as Green List (High Evidence).
Mendeliome v0.4496 TAOK1 Zornitza Stark Phenotypes for gene: TAOK1 were changed from to TAOK1-related neurodevelopmental disorder
Mendeliome v0.4495 TAOK1 Zornitza Stark Publications for gene: TAOK1 were set to
Mendeliome v0.4494 TAOK1 Zornitza Stark Mode of inheritance for gene: TAOK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4493 TAOK1 Zornitza Stark changed review comment from: Monoallelic de novo variants reported in 8 individuals with nonspecific phenotype of intellectual disability and hypotonia. Most were LOF, 2 missense. 3 had macrocephaly.; to: Monoallelic de novo variants reported in 8 individuals with nonspecific phenotype of intellectual disability and hypotonia; 3 had macrocephaly.
Mendeliome v0.4493 TAOK1 Zornitza Stark reviewed gene: TAOK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31230721; Phenotypes: TAOK1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4493 CSF1R Zornitza Stark Marked gene: CSF1R as ready
Mendeliome v0.4493 CSF1R Zornitza Stark Gene: csf1r has been classified as Green List (High Evidence).
Mendeliome v0.4493 CSF1R Zornitza Stark Phenotypes for gene: CSF1R were changed from to Brain abnormalities, neurodegeneration, and dysosteosclerosis, (MIM#618476); Leukoencephalopathy, diffuse hereditary, with spheroids, (MIM#221820)
Mendeliome v0.4492 CSF1R Zornitza Stark Publications for gene: CSF1R were set to
Mendeliome v0.4491 CSF1R Zornitza Stark Mode of pathogenicity for gene: CSF1R was changed from to Other
Mendeliome v0.4490 CSF1R Zornitza Stark Mode of inheritance for gene: CSF1R was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.4489 TAOK1 Elena Savva reviewed gene: TAOK1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31230721; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.4489 L2HGDH Zornitza Stark Marked gene: L2HGDH as ready
Mendeliome v0.4489 L2HGDH Zornitza Stark Gene: l2hgdh has been classified as Green List (High Evidence).
Mendeliome v0.4489 L2HGDH Zornitza Stark Phenotypes for gene: L2HGDH were changed from to L-2-hydroxyglutaric aciduria, MIM#236792
Mendeliome v0.4488 L2HGDH Zornitza Stark Publications for gene: L2HGDH were set to
Mendeliome v0.4487 L2HGDH Zornitza Stark Mode of inheritance for gene: L2HGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4486 L2HGDH Zornitza Stark reviewed gene: L2HGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 15385440; Phenotypes: L-2-hydroxyglutaric aciduria, MIM#236792; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4486 CSF1R Elena Savva reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 31330095, 24336230; Phenotypes: Brain abnormalities, neurodegeneration, and dysosteosclerosis, (MIM#618476), Leukoencephalopathy, diffuse hereditary, with spheroids, (MIM#221820); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.4486 LMNB1 Zornitza Stark Marked gene: LMNB1 as ready
Mendeliome v0.4486 LMNB1 Zornitza Stark Gene: lmnb1 has been classified as Green List (High Evidence).
Mendeliome v0.4486 LMNB1 Zornitza Stark Mode of inheritance for gene: LMNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4485 LMNB1 Zornitza Stark Mode of pathogenicity for gene: LMNB1 was changed from to Other
Mendeliome v0.4484 LMNB1 Zornitza Stark Publications for gene: LMNB1 were set to
Mendeliome v0.4483 LMNB1 Zornitza Stark Phenotypes for gene: LMNB1 were changed from to Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis; Leukodystrophy, adult-onset, autosomal dominant, MIM#169500
Mendeliome v0.4482 LMNB1 Zornitza Stark Tag SV/CNV tag was added to gene: LMNB1.
Mendeliome v0.4482 LMNB1 Zornitza Stark reviewed gene: LMNB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32910914, 16951681, 19151023; Phenotypes: Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis, Leukodystrophy, adult-onset, autosomal dominant, MIM#169500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.483 LMNB1 Zornitza Stark Marked gene: LMNB1 as ready
Microcephaly v0.483 LMNB1 Zornitza Stark Gene: lmnb1 has been classified as Green List (High Evidence).
Microcephaly v0.483 LMNB1 Zornitza Stark Classified gene: LMNB1 as Green List (high evidence)
Microcephaly v0.483 LMNB1 Zornitza Stark Gene: lmnb1 has been classified as Green List (High Evidence).
Microcephaly v0.482 LMNB1 Zornitza Stark gene: LMNB1 was added
gene: LMNB1 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMNB1 were set to 32910914
Phenotypes for gene: LMNB1 were set to Global developmental delay; Intellectual disability; Microcephaly; Short stature; Seizures; Abnormality of the corpus callosum; Cortical gyral simplification; Feeding difficulties; Scoliosis
Mode of pathogenicity for gene: LMNB1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: LMNB1 was set to GREEN
Added comment: Cristofoli et al (2020 - PMID: 32910914) report 7 individuals (from 5 families) harboring mostly de novo LMNB1 variants. The common phenotype consisted of primary microcephaly (7/7 ranging from -4.4 to -10 SD), DD/ID (7/7), relative short stature in most (+0.7 to -4 SD). Additional features included brain MRI abnormalities (abnormal CC in 3, simplified gyral pattern in 3, small structurally normal brain, etc), seizures (4 individuals from 2 families), limb spasticity (1/7), cortical visual impairment (in 3), feeding difficulties (5/7), scoliosis (4/7). Non-overlapping dysmorphic features were reported in some. Variants were identified by WES or custom-designed gene panel and included 3 missense variants, 1 in-frame deletion and a splice variant. The in-frame deletion was inherited from a similarly affected parent in whom the variant occurred as a dn event. The splice SNV(NM_005573.3:c.939+1G>A) occurred in 3 sibs and was present as mosaic variant (15%) in the parent. This variant was predicted to result to extension of exon 5 by 6 amino-acids (samples were unavailable for mRNA studies). LMNB1 encodes a B-type lamin (the other being encoded by LMNB2). A- and B- type lamins are major components of the nuclear lamina. As the authors comment, LMNB1 is expressed in almost all cell types beginning at the earliest stages of development. Lamin-deficient mouse models support an essential role of B-type lamins in organogenesis, neuronal migration, patterning during brain development. Functional studies performed, demonstrated impaired formation of LMNB1 nuclear lamina in LMNB1-null HeLa cells transfected with cDNAs for 3 missense variants. Two variants (Lys33Glu/Arg42Trp) were shown to result in decreased nuclear localization with increased abundance in the cytosolic fraction. In patient derived LCLs these variants led to abnormal nuclear morphology. A missense variant in another domain (Ala152Gly - 1st coil domain) resulted also in lower abundance of lamin B1, irregular lamin A/C nuclear lamina, as well as more condensed nuclei (HeLa cells). LMNB1 duplications or missense mutations increasing LMNB1 expression are associated with a different presentation of AD leuodystrophy. A variant previously associated with leukodystrophy (Arg29Trp) was shown to behave differently (present in the nuclear extract but not in the cytosol, lamin B1 to A/C ratio in nuclear extract was not significantly altered compared to wt as was the case for Arg42Trp, Lys33Glu). Given the pLI score of 0.55 as well as the phenotype of individuals with deletions (not presenting microcephaly) the authors predict that a dominant-negative effect applies (rather than haploinsufficiency).
Sources: Literature
Mendeliome v0.4482 L2HGDH Elena Savva reviewed gene: L2HGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20052767; Phenotypes: L-2-hydroxyglutaric aciduria MIM#236792; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.862 LMNB1 Zornitza Stark Marked gene: LMNB1 as ready
Genetic Epilepsy v0.862 LMNB1 Zornitza Stark Added comment: Comment when marking as ready: Note different mechanism for LMNB1-related neurodevelopmental phenotype cf Adult-onset leukodystrophy phenotype previously associated with this gene.
Genetic Epilepsy v0.862 LMNB1 Zornitza Stark Gene: lmnb1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.862 LMNB1 Zornitza Stark Mode of pathogenicity for gene: LMNB1 was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Genetic Epilepsy v0.861 LMNB1 Zornitza Stark Classified gene: LMNB1 as Amber List (moderate evidence)
Genetic Epilepsy v0.861 LMNB1 Zornitza Stark Gene: lmnb1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3011 LMNB1 Zornitza Stark Marked gene: LMNB1 as ready
Intellectual disability syndromic and non-syndromic v0.3011 LMNB1 Zornitza Stark Added comment: Comment when marking as ready: Note different mechanism for LMNB1-related neurodevelopmental phenotype cf Adult-onset leukodystrophy phenotype previously associated with this gene.
Intellectual disability syndromic and non-syndromic v0.3011 LMNB1 Zornitza Stark Gene: lmnb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3011 LMNB1 Zornitza Stark Phenotypes for gene: LMNB1 were changed from Leukodystrophy, adult-onset, autosomal dominant, MIM#169500 to Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis; Leukodystrophy, adult-onset, autosomal dominant, MIM#169500
Intellectual disability syndromic and non-syndromic v0.3010 LMNB1 Zornitza Stark Publications for gene: LMNB1 were set to
Intellectual disability syndromic and non-syndromic v0.3009 LMNB1 Zornitza Stark Mode of pathogenicity for gene: LMNB1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability syndromic and non-syndromic v0.3008 LMNB1 Zornitza Stark Classified gene: LMNB1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3008 LMNB1 Zornitza Stark Gene: lmnb1 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v0.162 MAPK8 Zornitza Stark Marked gene: MAPK8 as ready
Aortopathy_Connective Tissue Disorders v0.162 MAPK8 Zornitza Stark Gene: mapk8 has been classified as Amber List (Moderate Evidence).
Aortopathy_Connective Tissue Disorders v0.162 MAPK8 Zornitza Stark Classified gene: MAPK8 as Amber List (moderate evidence)
Aortopathy_Connective Tissue Disorders v0.162 MAPK8 Zornitza Stark Gene: mapk8 has been classified as Amber List (Moderate Evidence).
Aortopathy_Connective Tissue Disorders v0.161 MAPK8 Zornitza Stark gene: MAPK8 was added
gene: MAPK8 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature
Mode of inheritance for gene: MAPK8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAPK8 were set to 31784499
Phenotypes for gene: MAPK8 were set to Chronic mucocutaneous candidiasis; Connective tissue disorders
Review for gene: MAPK8 was set to AMBER
Added comment: PMID: 31784499 (2020) - Three cases in a single family with chronic mucocutaneous candidiasis and a connective tissue disorder that clinically overlaps with hEDS. WES revealed a splice-site variant (c.311+1G>A) in the MAPK8 gene that segregated with the disorder. Includes supportive functional data using patient-derived fibroblasts, showing that the variant impairs IL-17A/F immunity and the development of Th17 cells.

Single family with high level of supportive functional data.
Sources: Literature
Mendeliome v0.4482 MAPK8 Zornitza Stark reviewed gene: MAPK8: Rating: AMBER; Mode of pathogenicity: None; Publications: 31784499; Phenotypes: Chronic mucocutaneous candidiasis, Connective tissue disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4482 MAPK8 Zornitza Stark Marked gene: MAPK8 as ready
Mendeliome v0.4482 MAPK8 Zornitza Stark Gene: mapk8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4482 MAPK8 Zornitza Stark Classified gene: MAPK8 as Amber List (moderate evidence)
Mendeliome v0.4482 MAPK8 Zornitza Stark Gene: mapk8 has been classified as Amber List (Moderate Evidence).
Common Variable Immunodeficiency v0.94 CTNNBL1 Zornitza Stark Marked gene: CTNNBL1 as ready
Common Variable Immunodeficiency v0.94 CTNNBL1 Zornitza Stark Gene: ctnnbl1 has been classified as Amber List (Moderate Evidence).
Common Variable Immunodeficiency v0.94 CTNNBL1 Zornitza Stark Classified gene: CTNNBL1 as Amber List (moderate evidence)
Common Variable Immunodeficiency v0.94 CTNNBL1 Zornitza Stark Gene: ctnnbl1 has been classified as Amber List (Moderate Evidence).
Common Variable Immunodeficiency v0.93 CTNNBL1 Zornitza Stark gene: CTNNBL1 was added
gene: CTNNBL1 was added to Common Variable Immunodeficiency. Sources: Literature
Mode of inheritance for gene: CTNNBL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNNBL1 were set to 32484799
Phenotypes for gene: CTNNBL1 were set to Primary Immunodeficiency; Autoimmune Cytopenias; Common variable immunodeficiency
Review for gene: CTNNBL1 was set to AMBER
Added comment: PMID: 32484799 (2020) - One patient with common variable immunodeficiency associated with autoimmune cytopenia (CVID+AIC), associated with a homozygous missense M466V variant in the CTNNBL1 gene. Functional studies showed that the variant impaired interaction with AID, in turn disrupting AID-mediated antibody diversification in activated B-cells.
Sources: Literature
Mendeliome v0.4481 CTNNBL1 Zornitza Stark Marked gene: CTNNBL1 as ready
Mendeliome v0.4481 CTNNBL1 Zornitza Stark Gene: ctnnbl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4481 CTNNBL1 Zornitza Stark Classified gene: CTNNBL1 as Amber List (moderate evidence)
Mendeliome v0.4481 CTNNBL1 Zornitza Stark Gene: ctnnbl1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.860 LMNB1 Konstantinos Varvagiannis edited their review of gene: LMNB1: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability syndromic and non-syndromic v0.3007 LMNB1 Konstantinos Varvagiannis edited their review of gene: LMNB1: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Genetic Epilepsy v0.860 LMNB1 Konstantinos Varvagiannis gene: LMNB1 was added
gene: LMNB1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LMNB1 were set to 32910914
Phenotypes for gene: LMNB1 were set to Global developmental delay; Intellectual disability; Microcephaly; Short stature; Seizures; Abnormality of the corpus callosum; Cortical gyral simplification; Feeding difficulties; Scoliosis
Penetrance for gene: LMNB1 were set to unknown
Mode of pathogenicity for gene: LMNB1 was set to Other
Review for gene: LMNB1 was set to AMBER
Added comment: Cristofoli et al (2020 - PMID: 32910914) report 7 individuals (from 5 families) harboring mostly de novo LMNB1 variants.

The common phenotype consisted of primary microcephaly (7/7 ranging from -4.4 to -10 SD), DD/ID (7/7), relative short stature in most (+0.7 to -4 SD). Additional features included brain MRI abnormalities (abnormal CC in 3, simplified gyral pattern in 3, small structurally normal brain, etc), seizures (4 individuals from 2 families), limb spasticity (1/7), cortical visual impairment (in 3), feeding difficulties (5/7), scoliosis (4/7). Non-overlapping dysmorphic features were reported in some.

Variants were identified by WES or custom-designed gene panel and included 3 missense variants, 1 in-frame deletion and a splice variant. The in-frame deletion was inherited from a similarly affected parent in whom the variant occurred as a dn event. The splice SNV(NM_005573.3:c.939+1G>A) occurred in 3 sibs and was present as mosaic variant (15%) in the parent. This variant was predicted to result to extension of exon 5 by 6 amino-acids (samples were unavailable for mRNA studies).

LMNB1 encodes a B-type lamin (the other being encoded by LMNB2). A- and B- type lamins are major components of the nuclear lamina. As the authors comment, LMNB1 is expressed in almost all cell types beginning at the earliest stages of development.

Lamin-deficient mouse models support an essential role of B-type lamins in organogenesis, neuronal migration, patterning during brain development.

Functional studies performed, demonstrated impaired formation of LMNB1 nuclear lamina in LMNB1-null HeLa cells transfected with cDNAs for 3 missense variants.

Two variants (Lys33Glu/Arg42Trp) were shown to result in decreased nuclear localization with increased abundance in the cytosolic fraction. In patient derived LCLs these variants led to abnormal nuclear morphology. A missense variant in another domain (Ala152Gly - 1st coil domain) resulted also in lower abundance of lamin B1, irregular lamin A/C nuclear lamina, as well as more condensed nuclei (HeLa cells).

LMNB1 duplications or missense mutations increasing LMNB1 expression are associated with a different presentation of AD leuodystrophy. A variant previously associated with leukodystrophy (Arg29Trp) was shown to behave differently (present in the nuclear extract but not in the cytosol, lamin B1 to A/C ratio in nuclear extract was not significantly altered compared to wt as was the case for Arg42Trp, Lys33Glu).

Given the pLI score of 0.55 as well as the phenotype of individuals with deletions (not presenting microcephaly) the authors predict that a dominant-negative effect applies (rather than haploinsufficiency).

Consider inclusion in the following panels : DD/ID (green), epilepsy (amber - 4 of 7 patients belonging to 2 families), primary microcephaly (green), callosome (amber/green - 3 individuals belonging to 3 families), mendeliome (green), etc.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3007 LMNB1 Konstantinos Varvagiannis edited their review of gene: LMNB1: Changed mode of pathogenicity: Other
Intellectual disability syndromic and non-syndromic v0.3007 LMNB1 Konstantinos Varvagiannis reviewed gene: LMNB1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 32910914; Phenotypes: Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.4480 MAPK8 Arina Puzriakova gene: MAPK8 was added
gene: MAPK8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAPK8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAPK8 were set to 31784499
Phenotypes for gene: MAPK8 were set to Chronic mucocutaneous candidiasis; Connective tissue disorders
Added comment: PMID: 31784499 (2020) - Three cases in a single family with chronic mucocutaneous candidiasis and a connective tissue disorder that clinically overlaps with hEDS. WES revealed a splice-site variant (c.311+1G>A) in the MAPK8 gene that segregated with the disorder. Includes supportive functional data using patient-derived fibroblasts, showing that the variant impairs IL-17A/F immunity and the development of Th17 cells.
Sources: Literature
Mendeliome v0.4480 CTNNBL1 Arina Puzriakova gene: CTNNBL1 was added
gene: CTNNBL1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CTNNBL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNNBL1 were set to 32484799
Phenotypes for gene: CTNNBL1 were set to Primary Immunodeficiency; Autoimmune Cytopenias; Common variable immunodeficiency
Added comment: PMID: 32484799 (2020) - One patient with common variable immunodeficiency associated with autoimmune cytopenia (CVID+AIC), associated with a homozygous missense M466V variant in the CTNNBL1 gene. Functional studies showed that the variant impaired interaction with AID, in turn disrupting AID-mediated antibody diversification in activated B-cells.
Sources: Literature
Hereditary Spastic Paraplegia - paediatric v0.120 ATAD3A Zornitza Stark Marked gene: ATAD3A as ready
Hereditary Spastic Paraplegia - paediatric v0.120 ATAD3A Zornitza Stark Gene: atad3a has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.120 ATAD3A Zornitza Stark Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome to Harel-Yoon syndrome, MIM# 617183
Hereditary Spastic Paraplegia - paediatric v0.119 ATAD3A Zornitza Stark Publications for gene: ATAD3A were set to
Hereditary Spastic Paraplegia - paediatric v0.118 ATAD3A Zornitza Stark reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28158749, 27640307; Phenotypes: Harel-Yoon syndrome, MIM# 617183; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.147 ZEB2 Bryony Thompson Marked gene: ZEB2 as ready
Craniosynostosis v0.147 ZEB2 Bryony Thompson Gene: zeb2 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.147 ZEB2 Bryony Thompson Classified gene: ZEB2 as Amber List (moderate evidence)
Craniosynostosis v0.147 ZEB2 Bryony Thompson Gene: zeb2 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.146 ZEB2 Bryony Thompson Mode of inheritance for gene: ZEB2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.145 ZEB2 Bryony Thompson edited their review of gene: ZEB2: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.145 ZEB2 Bryony Thompson gene: ZEB2 was added
gene: ZEB2 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: ZEB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZEB2 were set to 25123255; 18076118
Phenotypes for gene: ZEB2 were set to Mowat-Wilson syndrome MIM#235730
Review for gene: ZEB2 was set to AMBER
Added comment: Identified 3 unrelated cases with cranionsynostosis as a prominent feature of the condition. However, the last report was in 2014.
Sources: Literature
Craniosynostosis v0.144 SCARF2 Bryony Thompson Marked gene: SCARF2 as ready
Craniosynostosis v0.144 SCARF2 Bryony Thompson Gene: scarf2 has been classified as Red List (Low Evidence).
Craniosynostosis v0.144 SCARF2 Bryony Thompson gene: SCARF2 was added
gene: SCARF2 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCARF2 were set to 23808541
Phenotypes for gene: SCARF2 were set to Van den Ende-Gupta syndrome MIM#600920
Review for gene: SCARF2 was set to RED
Added comment: A single family reported with craniosynostosis as a feature of the condition.
Sources: Literature
Craniosynostosis v0.143 LMX1B Bryony Thompson Marked gene: LMX1B as ready
Craniosynostosis v0.143 LMX1B Bryony Thompson Gene: lmx1b has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.143 LMX1B Bryony Thompson Classified gene: LMX1B as Amber List (moderate evidence)
Craniosynostosis v0.143 LMX1B Bryony Thompson Gene: lmx1b has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.142 LMX1B Bryony Thompson gene: LMX1B was added
gene: LMX1B was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMX1B were set to 29852132; 20643727
Phenotypes for gene: LMX1B were set to Coronal craniosynostosis
Review for gene: LMX1B was set to AMBER
Added comment: A single case reported with p.L203F and craniosynostosis. Supporting mouse model.
Sources: Literature
Craniosynostosis v0.141 IRX5 Bryony Thompson Marked gene: IRX5 as ready
Craniosynostosis v0.141 IRX5 Bryony Thompson Gene: irx5 has been classified as Red List (Low Evidence).
Craniosynostosis v0.141 IRX5 Bryony Thompson gene: IRX5 was added
gene: IRX5 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: IRX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IRX5 were set to 22581230
Phenotypes for gene: IRX5 were set to Hamamy syndrome MIM#611174
Review for gene: IRX5 was set to RED
Added comment: A single consanguineous family reported with craniosynostosis as a feature of the condition.
Sources: Literature
Craniosynostosis v0.140 GPC3 Bryony Thompson Classified gene: GPC3 as Amber List (moderate evidence)
Craniosynostosis v0.140 GPC3 Bryony Thompson Gene: gpc3 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.139 GPC3 Bryony Thompson gene: GPC3 was added
gene: GPC3 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GPC3 were set to 24115482; 28796105; 19372699
Phenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome, type 1 MIM#312870
Review for gene: GPC3 was set to AMBER
Added comment: At least 2 unrelated cases reported with craniosynostosis as a feature of the condition. Supporting in vitro functional assays.
Sources: Literature
Craniosynostosis v0.138 FBN1 Bryony Thompson Classified gene: FBN1 as Green List (high evidence)
Craniosynostosis v0.138 FBN1 Bryony Thompson Gene: fbn1 has been classified as Green List (High Evidence).
Craniosynostosis v0.137 FBN1 Bryony Thompson gene: FBN1 was added
gene: FBN1 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBN1 were set to 8563763; 16596670; 24039054; 27884935
Phenotypes for gene: FBN1 were set to Shprintzen-Goldberg syndrome; Marfan syndrome MIM#154700
Review for gene: FBN1 was set to GREEN
Added comment: At least 5 unrelated cases have been reported, usually de novo with craniosynostosis (coronoal and sagittal) as a feature of the condition.
Sources: Literature
Mendeliome v0.4480 PDIA5 Zornitza Stark Marked gene: PDIA5 as ready
Mendeliome v0.4480 PDIA5 Zornitza Stark Gene: pdia5 has been classified as Red List (Low Evidence).
Mendeliome v0.4480 PDIA5 Zornitza Stark Classified gene: PDIA5 as Red List (low evidence)
Mendeliome v0.4480 PDIA5 Zornitza Stark Gene: pdia5 has been classified as Red List (Low Evidence).
Arthrogryposis v0.211 TNNI2 Zornitza Stark Marked gene: TNNI2 as ready
Arthrogryposis v0.211 TNNI2 Zornitza Stark Gene: tnni2 has been classified as Green List (High Evidence).
Arthrogryposis v0.211 TNNI2 Zornitza Stark Phenotypes for gene: TNNI2 were changed from to Arthrogryposis, distal, type 2B1, MIM# 601680
Arthrogryposis v0.210 TNNI2 Zornitza Stark Publications for gene: TNNI2 were set to
Arthrogryposis v0.209 TNNI2 Zornitza Stark Mode of pathogenicity for gene: TNNI2 was changed from to Other
Arthrogryposis v0.208 TNNI2 Zornitza Stark Mode of inheritance for gene: TNNI2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.207 TNNI2 Zornitza Stark reviewed gene: TNNI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17194691, 25340332, 12592607; Phenotypes: Arthrogryposis, distal, type 2B1, MIM# 601680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4479 TNNI2 Zornitza Stark Marked gene: TNNI2 as ready
Mendeliome v0.4479 TNNI2 Zornitza Stark Gene: tnni2 has been classified as Green List (High Evidence).
Mendeliome v0.4479 TNNI2 Zornitza Stark Phenotypes for gene: TNNI2 were changed from to Arthrogryposis, distal, type 2B1 (MIM#601680)
Mendeliome v0.4478 TNNI2 Zornitza Stark Publications for gene: TNNI2 were set to
Mendeliome v0.4477 TNNI2 Zornitza Stark Mode of pathogenicity for gene: TNNI2 was changed from to Other
Mendeliome v0.4476 TNNI2 Zornitza Stark Mode of inheritance for gene: TNNI2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4475 MEIS2 Michelle Torres reviewed gene: MEIS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25712757; Phenotypes: Cleft palate, cardiac defects, and mental retardation (MIM#600987); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4475 TNNI2 Michelle Torres changed review comment from: Only a handful of variants reported, with a cluster of pathogenic missense in the C-terminal (between p.165 and 175). Missense, nonsense (not NMD) and an inframe-deletion have been shown to result in gain of function.; to: Only a handful of variants reported, with a cluster of pathogenic missense in the C-terminal (between p.165 and 175). Missense, nonsense (not NMD) and an inframe-deletion have been shown to result in gain of function (PMIDs: 17194691, 25340332).
Mendeliome v0.4475 PDIA5 Ain Roesley reviewed gene: PDIA5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.4475 TNNI2 Michelle Torres reviewed gene: TNNI2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17194691, 25340332; Phenotypes: Arthrogryposis, distal, type 2B1 (MIM#601680); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4475 MMP23A Bryony Thompson Marked gene: MMP23A as ready
Mendeliome v0.4475 MMP23A Bryony Thompson Gene: mmp23a has been classified as Red List (Low Evidence).
Mendeliome v0.4475 MMP23A Bryony Thompson Classified gene: MMP23A as Red List (low evidence)
Mendeliome v0.4475 MMP23A Bryony Thompson Gene: mmp23a has been classified as Red List (Low Evidence).
Mendeliome v0.4474 MMP23A Bryony Thompson reviewed gene: MMP23A: Rating: RED; Mode of pathogenicity: None; Publications: 15483646, 18924166; Phenotypes: Craniosynostosis; Mode of inheritance: Unknown
Mendeliome v0.4474 TAF2 Zornitza Stark Publications for gene: TAF2 were set to 21937992; 22633631; 26350204
Mendeliome v0.4473 TAF2 Zornitza Stark edited their review of gene: TAF2: Added comment: Evidence for gene-disease association is limited. Families reported as part of large cohorts with limited phenotypic data, and variants are homozygous missense without functional validation. Borderline Amber/Green.; Changed publications: 21937992, 22633631, 26350204, 24084144
Mendeliome v0.4473 TAF2 Elena Savva reviewed gene: TAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24084144, 21937992, 22633631, 26350204; Phenotypes: Mental retardation, autosomal recessive 40 615599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.118 ABCD1 Zornitza Stark Marked gene: ABCD1 as ready
Hereditary Spastic Paraplegia - paediatric v0.118 ABCD1 Zornitza Stark Gene: abcd1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.118 ABCD1 Zornitza Stark Classified gene: ABCD1 as Green List (high evidence)
Hereditary Spastic Paraplegia - paediatric v0.118 ABCD1 Zornitza Stark Gene: abcd1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.117 ABCD1 Zornitza Stark gene: ABCD1 was added
gene: ABCD1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCD1 were set to Adrenoleukodystrophy, MIM# 300100
Review for gene: ABCD1 was set to GREEN
Added comment: Variable age of onset. Spasticity is a feature. Well established gene-disease association.
Sources: Expert list
Clefting disorders v0.0 YAP1 Zornitza Stark gene: YAP1 was added
gene: YAP1 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: YAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: YAP1 were set to 24462371
Phenotypes for gene: YAP1 were set to COB1; COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION
Clefting disorders v0.0 WNT3 Zornitza Stark gene: WNT3 was added
gene: WNT3 was added to Clefting_GEL. Sources: Expert Review Red
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 TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE; TETAMS
Clefting disorders v0.0 WASHC5 Zornitza Stark gene: WASHC5 was added
gene: WASHC5 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: WASHC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WASHC5 were set to 24065355
Phenotypes for gene: WASHC5 were set to RTSC1; RITSCHER-SCHINZEL SYNDROME 1
Clefting disorders v0.0 VAX1 Zornitza Stark gene: VAX1 was added
gene: VAX1 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: VAX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VAX1 were set to 22095910
Phenotypes for gene: VAX1 were set to MCOPS11; MICROPHTHALMIA, SYNDROMIC 11
Clefting disorders v0.0 UQCC2 Zornitza Stark gene: UQCC2 was added
gene: UQCC2 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: UQCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCC2 were set to 24385928
Phenotypes for gene: UQCC2 were set to MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7
Clefting disorders v0.0 UBB Zornitza Stark gene: UBB was added
gene: UBB was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: UBB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: UBB were set to Cleft palate, isolated, 119540
Clefting disorders v0.0 TWIST2 Zornitza Stark gene: TWIST2 was added
gene: TWIST2 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: TWIST2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TWIST2 were set to BARBER-SAY SYNDROME; BBRSAY
Clefting disorders v0.0 TSR2 Zornitza Stark gene: TSR2 was added
gene: TSR2 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: TSR2 was set to Unknown
Phenotypes for gene: TSR2 were set to Cleft palate
Clefting disorders v0.0 TGFB2 Zornitza Stark gene: TGFB2 was added
gene: TGFB2 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TGFB2 were set to 29392890
Phenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome 4, 614816
Clefting disorders v0.0 TFAP2B Zornitza Stark gene: TFAP2B was added
gene: TFAP2B was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: TFAP2B was set to Unknown
Phenotypes for gene: TFAP2B were set to Cleft lip
Clefting disorders v0.0 SUMO1 Zornitza Stark gene: SUMO1 was added
gene: SUMO1 was added to Clefting_GEL. Sources: Illumina TruGenome Clinical Sequencing Services,Expert Review Red,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: SUMO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SUMO1 were set to 22492558
Phenotypes for gene: SUMO1 were set to Cleft Lip with or without Cleft Palate; Orofacial cleft 10, 613705
Clefting disorders v0.0 STXBP1 Zornitza Stark gene: STXBP1 was added
gene: STXBP1 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: STXBP1 were set to EIEE4; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4
Clefting disorders v0.0 STRA6 Zornitza Stark gene: STRA6 was added
gene: STRA6 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRA6 were set to MCOPS9; MICROPHTHALMIA, SYNDROMIC 9
Clefting disorders v0.0 STIL Zornitza Stark gene: STIL was added
gene: STIL was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: STIL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STIL were set to MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE; MCPH7
Clefting disorders v0.0 SOX2 Zornitza Stark gene: SOX2 was added
gene: SOX2 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX2 were set to MICROPHTHALMIA, SYNDROMIC 3; MCOPS3
Clefting disorders v0.0 SMOC1 Zornitza Stark gene: SMOC1 was added
gene: SMOC1 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: SMOC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMOC1 were set to MLA; MICROPHTHALMIA WITH LIMB ANOMALIES
Clefting disorders v0.0 SMAD2 Zornitza Stark gene: SMAD2 was added
gene: SMAD2 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD2 were set to 29967133; 29392890
Phenotypes for gene: SMAD2 were set to Loeys-Dietz syndrome
Clefting disorders v0.0 SELENOI Zornitza Stark gene: SELENOI was added
gene: SELENOI was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: SELENOI was set to Unknown
Phenotypes for gene: SELENOI were set to Cleft palate
Clefting disorders v0.0 RSPO2 Zornitza Stark gene: RSPO2 was added
gene: RSPO2 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: RSPO2 was set to Unknown
Phenotypes for gene: RSPO2 were set to Cleft lip
Clefting disorders v0.0 RPS19 Zornitza Stark gene: RPS19 was added
gene: RPS19 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS19 were set to DBA1; DIAMOND-BLACKFAN ANEMIA 1
Clefting disorders v0.0 RPS17 Zornitza Stark gene: RPS17 was added
gene: RPS17 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS17 were set to DIAMOND-BLACKFAN ANEMIA 4; DBA4
Clefting disorders v0.0 RPL11 Zornitza Stark gene: RPL11 was added
gene: RPL11 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: RPL11 was set to Unknown
Phenotypes for gene: RPL11 were set to Cleft palate
Clefting disorders v0.0 RBM8A Zornitza Stark gene: RBM8A was added
gene: RBM8A was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBM8A were set to TAR; THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
Clefting disorders v0.0 RAI1 Zornitza Stark gene: RAI1 was added
gene: RAI1 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: RAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAI1 were set to SMS; SMITH-MAGENIS SYNDROME
Clefting disorders v0.0 PTDSS1 Zornitza Stark gene: PTDSS1 was added
gene: PTDSS1 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PTDSS1 were set to 25363158; 15194948; 26117586; 24241535
Phenotypes for gene: PTDSS1 were set to broad prominent forehead; delayed closure of the fontanelles; dental enamel hypoplasia; growth restriction; Lenz-Majewski hyperostotic dwarfism, 151050; choanal atresia; proximal symphalangism cutis laxa; progressive sclerosis and hyperostosis of skull, vertebra and tubular bones; brachydactyly of fingers and toes
Mode of pathogenicity for gene: PTDSS1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Clefting disorders v0.0 PSAT1 Zornitza Stark gene: PSAT1 was added
gene: PSAT1 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSAT1 were set to 25152457
Phenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2, 616038
Clefting disorders v0.0 PQBP1 Zornitza Stark gene: PQBP1 was added
gene: PQBP1 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PQBP1 were set to 7943045
Phenotypes for gene: PQBP1 were set to Renpenning syndrome, 309500
Clefting disorders v0.0 POMT2 Zornitza Stark gene: POMT2 was added
gene: POMT2 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMT2 were set to 15894594
Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
Clefting disorders v0.0 POMT1 Zornitza Stark gene: POMT1 was added
gene: POMT1 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMT1 were set to 12369018
Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670
Clefting disorders v0.0 PLEKHA5 Zornitza Stark gene: PLEKHA5 was added
gene: PLEKHA5 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: PLEKHA5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PLEKHA5 were set to 29805042
Phenotypes for gene: PLEKHA5 were set to cleft lip
Clefting disorders v0.0 PLCB4 Zornitza Stark gene: PLCB4 was added
gene: PLCB4 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: PLCB4 was set to Unknown
Phenotypes for gene: PLCB4 were set to Cleft palate
Clefting disorders v0.0 PIK3R2 Zornitza Stark gene: PIK3R2 was added
gene: PIK3R2 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PIK3R2 were set to MPPH1; MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1
Clefting disorders v0.0 PIGL Zornitza Stark gene: PIGL was added
gene: PIGL was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGL were set to 28371479
Phenotypes for gene: PIGL were set to CHIME; COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME
Clefting disorders v0.0 PIGA Zornitza Stark gene: PIGA was added
gene: PIGA was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PIGA were set to 22305531; 22514539
Phenotypes for gene: PIGA were set to MCAHS2; MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
Clefting disorders v0.0 PGM1 Zornitza Stark gene: PGM1 was added
gene: PGM1 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: PGM1 was set to Unknown
Phenotypes for gene: PGM1 were set to Cleft palate
Clefting disorders v0.0 PGAP2 Zornitza Stark gene: PGAP2 was added
gene: PGAP2 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: PGAP2 was set to Unknown
Phenotypes for gene: PGAP2 were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3
Clefting disorders v0.0 NSDHL Zornitza Stark gene: NSDHL was added
gene: NSDHL was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NSDHL were set to CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
Clefting disorders v0.0 NKX2-6 Zornitza Stark gene: NKX2-6 was added
gene: NKX2-6 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: NKX2-6 was set to Unknown
Phenotypes for gene: NKX2-6 were set to CTHM; CONOTRUNCAL HEART MALFORMATIONS
Clefting disorders v0.0 NKX2-5 Zornitza Stark gene: NKX2-5 was added
gene: NKX2-5 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: NKX2-5 was set to Unknown
Publications for gene: NKX2-5 were set to 22155005
Phenotypes for gene: NKX2-5 were set to CTHM; CONOTRUNCAL HEART MALFORMATIONS
Clefting disorders v0.0 NBN Zornitza Stark gene: NBN was added
gene: NBN was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBN were set to 3857858; 22373003
Phenotypes for gene: NBN were set to Nijmegen breakage syndrome, 251260; NBS
Clefting disorders v0.0 METTL23 Zornitza Stark gene: METTL23 was added
gene: METTL23 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: METTL23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: METTL23 were set to 24501276
Phenotypes for gene: METTL23 were set to Mental retardation, autosomal recessive 44, 615942; MRT44
Clefting disorders v0.0 MED12 Zornitza Stark gene: MED12 was added
gene: MED12 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MED12 were set to 12784307
Phenotypes for gene: MED12 were set to Opitz-Kaveggia syndrome, 305450; Lujan-Fryns syndrome, 309520; OKS; submucous cleft palate
Clefting disorders v0.0 LMX1B Zornitza Stark gene: LMX1B was added
gene: LMX1B was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LMX1B were set to 2012138
Phenotypes for gene: LMX1B were set to Nail-patella syndrome, 161200
Clefting disorders v0.0 KIF22 Zornitza Stark gene: KIF22 was added
gene: KIF22 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: KIF22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIF22 were set to 22653704
Phenotypes for gene: KIF22 were set to SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546
Clefting disorders v0.0 KAT6B Zornitza Stark gene: KAT6B was added
gene: KAT6B was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KAT6B were set to 20182757; 27031267
Phenotypes for gene: KAT6B were set to Genitopatellar syndrome, 606170; GTPTS
Clefting disorders v0.0 KANSL1 Zornitza Stark gene: KANSL1 was added
gene: KANSL1 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KANSL1 were set to 20301783; 22544363
Phenotypes for gene: KANSL1 were set to KDVS; Koolen-De Vries syndrome, 610443
Clefting disorders v0.0 INTS1 Zornitza Stark gene: INTS1 was added
gene: INTS1 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: INTS1 was set to Unknown
Phenotypes for gene: INTS1 were set to Cleft palate
Clefting disorders v0.0 HOXA2 Zornitza Stark gene: HOXA2 was added
gene: HOXA2 was added to Clefting_GEL. Sources: Illumina TruGenome Clinical Sequencing Services,Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: HOXA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HOXA2 were set to 18394579; 23775976; 27503514
Phenotypes for gene: HOXA2 were set to Ear anomalies and orofacial clefting; Microtia, Hearing Impairment, and Cleft Palate; Cleft palate; ?Microtia with or without hearing impairment (includes clefting), 612290, (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown); ?Microtia with or without hearing impairment (includes clefting), 612290, (BIALLELIC, autosomal or pseudoautosomal)
Clefting disorders v0.0 GYPE Zornitza Stark gene: GYPE was added
gene: GYPE was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: GYPE was set to Unknown
Clefting disorders v0.0 GRIP1 Zornitza Stark gene: GRIP1 was added
gene: GRIP1 was added to Clefting_GEL. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Expert Review Red,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: GRIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GRIP1 were set to 22510445; 16894541; 18000968
Phenotypes for gene: GRIP1 were set to Fraser syndrome, 219000
Clefting disorders v0.0 GNAI3 Zornitza Stark gene: GNAI3 was added
gene: GNAI3 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: GNAI3 was set to Unknown
Phenotypes for gene: GNAI3 were set to Cleft palate
Clefting disorders v0.0 GMNN Zornitza Stark gene: GMNN was added
gene: GMNN was added to Clefting_GEL. Sources: Expert list,Expert Review Red,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: GMNN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GMNN were set to 26637980
Phenotypes for gene: GMNN were set to Meier-Gorlin syndrome 6, 616835
Clefting disorders v0.0 GDF1 Zornitza Stark gene: GDF1 was added
gene: GDF1 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: GDF1 was set to Unknown
Publications for gene: GDF1 were set to 16564040
Phenotypes for gene: GDF1 were set to CTHM; CONOTRUNCAL HEART MALFORMATIONS
Clefting disorders v0.0 GATA6 Zornitza Stark gene: GATA6 was added
gene: GATA6 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: GATA6 was set to Unknown
Publications for gene: GATA6 were set to 27391658
Phenotypes for gene: GATA6 were set to CTHM; CONOTRUNCAL HEART MALFORMATIONS
Clefting disorders v0.0 FREM2 Zornitza Stark gene: FREM2 was added
gene: FREM2 was added to Clefting_GEL. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Expert Review Red,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FREM2 were set to 15838507; 16894541; 18671281; 18203166
Phenotypes for gene: FREM2 were set to Fraser syndrome, 219000
Clefting disorders v0.0 FOXE1 Zornitza Stark gene: FOXE1 was added
gene: FOXE1 was added to Clefting_GEL. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXE1 was set to Unknown
Phenotypes for gene: FOXE1 were set to Cleft palate
Clefting disorders v0.0 FANCL Zornitza Stark gene: FANCL was added
gene: FANCL was added to Clefting_GEL. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Expert Review Red
Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCL were set to 25754594
Phenotypes for gene: FANCL were set to Fanconi anemia, complementation group L, 614083
Clefting disorders v0.0 FAM111A Zornitza Stark gene: FAM111A was added
gene: FAM111A was added to Clefting_GEL. Sources: Expert list,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FAM111A were set to 23684011; 16086393
Phenotypes for gene: FAM111A were set to 602361; Gracile bone dysplasia
Clefting disorders v0.0 EDN1 Zornitza Stark gene: EDN1 was added
gene: EDN1 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: EDN1 was set to Unknown
Phenotypes for gene: EDN1 were set to Cleft palate
Clefting disorders v0.0 DNMT3B Zornitza Stark gene: DNMT3B was added
gene: DNMT3B was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNMT3B were set to 17893117; 23486536
Phenotypes for gene: DNMT3B were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 267000
Clefting disorders v0.0 DLG1 Zornitza Stark gene: DLG1 was added
gene: DLG1 was added to Clefting_GEL. Sources: Literature,Expert Review Red
Mode of inheritance for gene: DLG1 was set to Unknown
Publications for gene: DLG1 were set to PMID: 28926086
Phenotypes for gene: DLG1 were set to Non-syndromic cleft lip with or without cleft palate
Clefting disorders v0.0 DIS3L2 Zornitza Stark gene: DIS3L2 was added
gene: DIS3L2 was added to Clefting_GEL. Sources: Expert list,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 23486540; 22306653; 28328139
Phenotypes for gene: DIS3L2 were set to Perlman syndrome, 267000
Clefting disorders v0.0 COL9A3 Zornitza Stark gene: COL9A3 was added
gene: COL9A3 was added to Clefting_GEL. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: COL9A3 was set to Unknown
Phenotypes for gene: COL9A3 were set to Cleft palate
Clefting disorders v0.0 CKAP2L Zornitza Stark gene: CKAP2L was added
gene: CKAP2L was added to Clefting_GEL. Sources: Expert list,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CKAP2L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CKAP2L were set to 12416644; 15365457
Phenotypes for gene: CKAP2L were set to Filippi syndrome, 272440
Clefting disorders v0.0 CHSY1 Zornitza Stark gene: CHSY1 was added
gene: CHSY1 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHSY1 were set to 15365460
Phenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome, 605282; TPBS
Clefting disorders v0.0 CHD1 Zornitza Stark gene: CHD1 was added
gene: CHD1 was added to Clefting_GEL. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: CHD1 was set to Unknown
Phenotypes for gene: CHD1 were set to Cleft palate
Clefting disorders v0.0 CASK Zornitza Stark gene: CASK was added
gene: CASK was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: CASK was set to Unknown
Phenotypes for gene: CASK were set to MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH
Clefting disorders v0.0 CANT1 Zornitza Stark gene: CANT1 was added
gene: CANT1 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: CANT1 was set to Unknown
Publications for gene: CANT1 were set to 27881841
Phenotypes for gene: CANT1 were set to DBQD1; DESBUQUOIS DYSPLASIA 1
Clefting disorders v0.0 BMP4 Zornitza Stark gene: BMP4 was added
gene: BMP4 was added to Clefting_GEL. Sources: Illumina TruGenome Clinical Sequencing Services,Expert Review Red,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services
Mode of inheritance for gene: BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BMP4 were set to Cleft lip with or without cleft palate, non syndromic, 11; MCOPS6, OROFACIAL CLEFT 11; OFC11; Orofacial Cleft; Cleft Lip with or without Cleft Palate; Cleft lip; MICROPHTHALMIA, SYNDROMIC 6; Orofacial cleft 11, 600625
Clefting disorders v0.0 B3GAT3 Zornitza Stark gene: B3GAT3 was added
gene: B3GAT3 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: B3GAT3 was set to Unknown
Phenotypes for gene: B3GAT3 were set to JDSCD; MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
Clefting disorders v0.0 ATRX Zornitza Stark gene: ATRX was added
gene: ATRX was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: ATRX was set to Unknown
Publications for gene: ATRX were set to 9788563
Phenotypes for gene: ATRX were set to MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1
Clefting disorders v0.0 ARCN1 Zornitza Stark gene: ARCN1 was added
gene: ARCN1 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: ARCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARCN1 were set to 27476655
Phenotypes for gene: ARCN1 were set to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 617164
Clefting disorders v0.0 ALG9 Zornitza Stark gene: ALG9 was added
gene: ALG9 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG9 were set to GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS
Clefting disorders v0.0 ACBD5 Zornitza Stark gene: ACBD5 was added
gene: ACBD5 was added to Clefting_GEL. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: ACBD5 was set to Unknown
Phenotypes for gene: ACBD5 were set to Cleft palate
Clefting disorders v0.0 ZMPSTE24 Zornitza Stark gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZMPSTE24 were set to RESTRICTIVE DERMOPATHY, LETHAL
Clefting disorders v0.0 ZBTB24 Zornitza Stark gene: ZBTB24 was added
gene: ZBTB24 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB24 were set to 23486536
Phenotypes for gene: ZBTB24 were set to IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2
Clefting disorders v0.0 WDR60 Zornitza Stark gene: WDR60 was added
gene: WDR60 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: WDR60 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR60 were set to SRTD8; SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
Clefting disorders v0.0 WDR35 Zornitza Stark gene: WDR35 was added
gene: WDR35 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR35 were set to SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7
Clefting disorders v0.0 WDR34 Zornitza Stark gene: WDR34 was added
gene: WDR34 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR34 were set to SRTD11; SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY
Clefting disorders v0.0 WDR19 Zornitza Stark gene: WDR19 was added
gene: WDR19 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR19 were set to SRTD5; SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
Clefting disorders v0.0 TTC21B Zornitza Stark gene: TTC21B was added
gene: TTC21B was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC21B were set to SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY; SRTD4
Clefting disorders v0.0 TBX15 Zornitza Stark gene: TBX15 was added
gene: TBX15 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: TBX15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBX15 were set to COUSIN SYNDROME
Clefting disorders v0.0 TBX1 Zornitza Stark gene: TBX1 was added
gene: TBX1 was added to Clefting_GEL. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX1 were set to CTHM; CONOTRUNCAL HEART MALFORMATIONS; Cleft palate
Clefting disorders v0.0 SMG9 Zornitza Stark gene: SMG9 was added
gene: SMG9 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: SMG9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMG9 were set to 27018474
Phenotypes for gene: SMG9 were set to HBMS; HEART AND BRAIN MALFORMATION SYNDROME
Clefting disorders v0.0 SEC23A Zornitza Stark gene: SEC23A was added
gene: SEC23A was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: SEC23A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEC23A were set to CLSD; CRANIOLENTICULOSUTURAL DYSPLASIA
Clefting disorders v0.0 RYR1 Zornitza Stark gene: RYR1 was added
gene: RYR1 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RYR1 were set to 23553484
Phenotypes for gene: RYR1 were set to CCD; CENTRAL CORE DISEASE OF MUSCLE
Clefting disorders v0.0 RPS28 Zornitza Stark gene: RPS28 was added
gene: RPS28 was added to Clefting_GEL. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS28 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS28 were set to DBA15; DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; Cleft palate
Clefting disorders v0.0 RBPJ Zornitza Stark gene: RBPJ was added
gene: RBPJ was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: RBPJ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RBPJ were set to 28160419; 22883147
Phenotypes for gene: RBPJ were set to ADAMS-OLIVER SYNDROME
Clefting disorders v0.0 RARB Zornitza Stark gene: RARB was added
gene: RARB was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: RARB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARB were set to MICROPHTHALMIA, SYNDROMIC 12; MCOPS12
Clefting disorders v0.0 POLR1A Zornitza Stark gene: POLR1A was added
gene: POLR1A was added to Clefting_GEL. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: POLR1A were set to 25913037
Phenotypes for gene: POLR1A were set to cleft palte
Clefting disorders v0.0 PLEKHA7 Zornitza Stark gene: PLEKHA7 was added
gene: PLEKHA7 was added to Clefting_GEL. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: PLEKHA7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PLEKHA7 were set to 29805042
Phenotypes for gene: PLEKHA7 were set to cleft lip
Clefting disorders v0.0 PHGDH Zornitza Stark gene: PHGDH was added
gene: PHGDH was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHGDH were set to 25152457; 24836451
Phenotypes for gene: PHGDH were set to NEU-LAXOVA SYNDROME 1; NLS1
Clefting disorders v0.0 MEOX1 Zornitza Stark gene: MEOX1 was added
gene: MEOX1 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: MEOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MEOX1 were set to 23290072; 24073994
Phenotypes for gene: MEOX1 were set to KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE; KFS2
Clefting disorders v0.0 MED25 Zornitza Stark gene: MED25 was added
gene: MED25 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED25 were set to 25792360
Phenotypes for gene: MED25 were set to BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME; BVSYS
Clefting disorders v0.0 MED13L Zornitza Stark gene: MED13L was added
gene: MED13L was added to Clefting_GEL. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MED13L were set to 25712080; 25137640
Phenotypes for gene: MED13L were set to Mental retardation and distinctive facial features with or without cardiac defects, 616789; Cleft palate; MRFACD
Clefting disorders v0.0 LMNA Zornitza Stark gene: LMNA was added
gene: LMNA was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: LMNA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMNA were set to RESTRICTIVE DERMOPATHY, LETHAL
Clefting disorders v0.0 KDM1A Zornitza Stark gene: KDM1A was added
gene: KDM1A was added to Clefting_GEL. Sources: Expert Review Amber,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: KDM1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KDM1A were set to 23020937; 24838796; 26656649
Phenotypes for gene: KDM1A were set to Cleft palate,psychomotor retardation,distinctive facial features, 616728
Clefting disorders v0.0 IFT52 Zornitza Stark gene: IFT52 was added
gene: IFT52 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: IFT52 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT52 were set to SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY; SRTD16
Clefting disorders v0.0 GNB1 Zornitza Stark gene: GNB1 was added
gene: GNB1 was added to Clefting_GEL. Sources: Expert list,Expert Review Amber,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNB1 were set to 27108799
Phenotypes for gene: GNB1 were set to Mental retardation, autosomal dominant 42, 616973
Clefting disorders v0.0 GATA3 Zornitza Stark gene: GATA3 was added
gene: GATA3 was added to Clefting_GEL. Sources: Expert list,Expert Review Amber,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GATA3 were set to 10935639; 11389161; 28303854; 21834031; 19659764
Phenotypes for gene: GATA3 were set to HDR syndrome; Barakat syndrome; Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255
Clefting disorders v0.0 FTO Zornitza Stark gene: FTO was added
gene: FTO was added to Clefting_GEL. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FTO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FTO were set to 26378117; 19559399
Phenotypes for gene: FTO were set to Growth retardation, developmental delay, facial dysmorphism, 612938; Lethal polymalformative syndrome, Boissel type
Clefting disorders v0.0 FOXP2 Zornitza Stark gene: FOXP2 was added
gene: FOXP2 was added to Clefting_GEL. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FOXP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXP2 were set to 27734906; 15326624
Phenotypes for gene: FOXP2 were set to Speech-language disorder-1, 602081
Clefting disorders v0.0 FBXO11 Zornitza Stark gene: FBXO11 was added
gene: FBXO11 was added to Clefting_GEL. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: FBXO11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXO11 were set to 17035249; 30057029; 30679813
Phenotypes for gene: FBXO11 were set to Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089; cleft lip
Clefting disorders v0.0 ESRP2 Zornitza Stark gene: ESRP2 was added
gene: ESRP2 was added to Clefting_GEL. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: ESRP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ESRP2 were set to 29805042
Phenotypes for gene: ESRP2 were set to cleft lip
Clefting disorders v0.0 DLX4 Zornitza Stark gene: DLX4 was added
gene: DLX4 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: DLX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DLX4 were set to 25954033
Phenotypes for gene: DLX4 were set to nonsyndromic cleft/lip palate (CL/P); OFC15; OROFACIAL CLEFT 15; ?Orofacial cleft 15, 616788
Clefting disorders v0.0 DDX59 Zornitza Stark gene: DDX59 was added
gene: DDX59 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDX59 were set to OROFACIODIGITAL SYNDROME V; OFD5
Clefting disorders v0.0 DDX3X Zornitza Stark gene: DDX3X was added
gene: DDX3X was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: DDX3X 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: DDX3X were set to MRX102; MENTAL RETARDATION, X-LINKED 102
Clefting disorders v0.0 COL9A2 Zornitza Stark gene: COL9A2 was added
gene: COL9A2 was added to Clefting_GEL. Sources: Expert Review Amber,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL9A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL9A2 were set to 21671392
Phenotypes for gene: COL9A2 were set to Stickler syndrome; Orofacial Clefting with skeletal features; ?Stickler syndrome type V, 614284; Cleft palate
Clefting disorders v0.0 CDC45 Zornitza Stark gene: CDC45 was added
gene: CDC45 was added to Clefting_GEL. Sources: Expert list,Expert Review Amber,Radboud University Medical Center, Nijmegen
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 Meier-Gorlin syndrome 7, 617063; MGORS7
Clefting disorders v0.0 BUB1B Zornitza Stark gene: BUB1B was added
gene: BUB1B was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BUB1B were set to MVA1; MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1
Clefting disorders v0.0 B4GALT7 Zornitza Stark gene: B4GALT7 was added
gene: B4GALT7 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GALT7 were set to 24755949
Phenotypes for gene: B4GALT7 were set to EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES; EDSSLA
Clefting disorders v0.0 B3GALT6 Zornitza Stark gene: B3GALT6 was added
gene: B3GALT6 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: B3GALT6 was set to Unknown
Phenotypes for gene: B3GALT6 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES; Ehlers-Danlos syndrome, progeroid type, 2 615349; SEMDJL1
Clefting disorders v0.0 ATR Zornitza Stark gene: ATR was added
gene: ATR was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: ATR was set to Unknown
Phenotypes for gene: ATR were set to SECKEL SYNDROME 1; SCKL1
Clefting disorders v0.0 ALX3 Zornitza Stark gene: ALX3 was added
gene: ALX3 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: ALX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALX3 were set to 19409524; 22106187; 19401770
Phenotypes for gene: ALX3 were set to FND1; Frontorhiny; FRONTONASAL DYSPLASIA 1
Clefting disorders v0.0 ALX1 Zornitza Stark gene: ALX1 was added
gene: ALX1 was added to Clefting_GEL. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: ALX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALX1 were set to 26610632; 20451171; 27324866
Phenotypes for gene: ALX1 were set to ?Frontonasal dysplasia 3, 613456
Clefting disorders v0.0 ZSWIM6 Zornitza Stark gene: ZSWIM6 was added
gene: ZSWIM6 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZSWIM6 were set to 25105228
Phenotypes for gene: ZSWIM6 were set to AFND; ACROMELIC FRONTONASAL DYSOSTOSIS
Clefting disorders v0.0 ZIC3 Zornitza Stark gene: ZIC3 was added
gene: ZIC3 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZIC3 were set to VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX
Clefting disorders v0.0 ZIC2 Zornitza Stark gene: ZIC2 was added
gene: ZIC2 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZIC2 were set to 19955556
Phenotypes for gene: ZIC2 were set to HOLOPROSENCEPHALY 5; HPE5
Clefting disorders v0.0 ZEB2 Zornitza Stark gene: ZEB2 was added
gene: ZEB2 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZEB2 were set to MOWAT-WILSON SYNDROME; MOWS
Clefting disorders v0.0 XYLT1 Zornitza Stark gene: XYLT1 was added
gene: XYLT1 was added to Clefting_GEL. Sources: 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; DBQD2
Clefting disorders v0.0 WNT5A Zornitza Stark gene: WNT5A was added
gene: WNT5A was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WNT5A were set to DRS1; ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
Clefting disorders v0.0 USP9X Zornitza Stark gene: USP9X was added
gene: USP9X was added to Clefting_GEL. Sources: Expert Review Green,Literature
Mode of inheritance for gene: USP9X 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: USP9X were set to 26833328
Phenotypes for gene: USP9X were set to Mental retardation, X-linked 99 300919 XLR; Mental retardation, X-linked 99, syndromic, female-restricted 300968
Clefting disorders v0.0 TXNL4A Zornitza Stark gene: TXNL4A was added
gene: TXNL4A was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TXNL4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TXNL4A were set to 25434003
Phenotypes for gene: TXNL4A were set to BURN-MCKEOWN SYNDROME; BMKS; Cleft palate
Clefting disorders v0.0 TUBB Zornitza Stark gene: TUBB was added
gene: TUBB was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: TUBB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB were set to CSCSC1; SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1
Clefting disorders v0.0 TRIM37 Zornitza Stark gene: TRIM37 was added
gene: TRIM37 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM37 were set to MULIBREY NANISM
Clefting disorders v0.0 TRAPPC9 Zornitza Stark gene: TRAPPC9 was added
gene: TRAPPC9 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC9 were set to 20004764
Phenotypes for gene: TRAPPC9 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13
Clefting disorders v0.0 TP63 Zornitza Stark gene: TP63 was added
gene: TP63 was added to Clefting_GEL. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TP63 were set to Orofacial cleft 8, EEC SYNDROME 3, Rapp Hodgkins syndrome, 129400; EEC3; Limb-mammary syndrome, 603543; AEC (Ankyloblepharon filiforme adnatum, Ectodermal defects and Clefting), Hay Wells syndrome 106260; EEC syndrome (Ectrodactyly, Ectodermal dysplasia and Clefting); ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; Cleft lip; Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3, 604292
Clefting disorders v0.0 TMCO1 Zornitza Stark gene: TMCO1 was added
gene: TMCO1 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMCO1 were set to CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME; CFSMR; Cleft palate
Clefting disorders v0.0 TGFBR2 Zornitza Stark gene: TGFBR2 was added
gene: TGFBR2 was added to Clefting_GEL. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TGFBR2 were set to 12975342; 15731757; 16928994
Phenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome; Loeys-Dietz syndrome 2, 610168
Clefting disorders v0.0 TGFBR1 Zornitza Stark gene: TGFBR1 was added
gene: TGFBR1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGFBR1 were set to LOEYS-DIETZ SYNDROME 1; LDS1
Clefting disorders v0.0 TGFB3 Zornitza Stark gene: TGFB3 was added
gene: TGFB3 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGFB3 were set to LDS5; LOEYS-DIETZ SYNDROME 5
Clefting disorders v0.0 TGDS Zornitza Stark gene: TGDS was added
gene: TGDS was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
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; Cleft palate; CATMANS
Clefting disorders v0.0 TFAP2A Zornitza Stark gene: TFAP2A was added
gene: TFAP2A was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TFAP2A were set to 10767004
Phenotypes for gene: TFAP2A were set to BRANCHIOOCULOFACIAL SYNDROME; BOFS; Cleft lip
Clefting disorders v0.0 TELO2 Zornitza Stark gene: TELO2 was added
gene: TELO2 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TELO2 were set to YHFS; YOU-HOOVER-FONG SYNDROME
Clefting disorders v0.0 TCTN3 Zornitza Stark gene: TCTN3 was added
gene: TCTN3 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN3 were set to OFD4; OROFACIODIGITAL SYNDROME IV
Clefting disorders v0.0 TCOF1 Zornitza Stark gene: TCOF1 was added
gene: TCOF1 was added to Clefting_GEL. Sources: Expert Review Green
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; TCS1
Clefting disorders v0.0 TBX22 Zornitza Stark gene: TBX22 was added
gene: TBX22 was added to Clefting_GEL. Sources: Expert Review Green,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBX22 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: TBX22 were set to 19648124; 17846996; 21248356; 12374769; 11559848; 19648291; 22784330; 14729838
Phenotypes for gene: TBX22 were set to Cleft palate with ankyloglossia, 303400; Cleft palate; CPX; cleft lip; palate; CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED; sub mucous cleft
Clefting disorders v0.0 STAMBP Zornitza Stark gene: STAMBP was added
gene: STAMBP was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAMBP were set to MICCAP; MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME
Clefting disorders v0.0 SPECC1L Zornitza Stark gene: SPECC1L was added
gene: SPECC1L was added to Clefting_GEL. Sources: Expert Review Green,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: SPECC1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPECC1L were set to 8849002; 21703590; 25412741; 1897571
Phenotypes for gene: SPECC1L were set to GBBB2; ?Facial clefting, oblique, 1, 600251; Opitz GBBB syndrome, type II (with clefting), 145410; OPITZ GBBB SYNDROME, TYPE II
Clefting disorders v0.0 SOX9 Zornitza Stark gene: SOX9 was added
gene: SOX9 was added to Clefting_GEL. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOX9 were set to 7485151; 7990924; 24038782; 12783851; 19449405; 15806394; 8894698
Phenotypes for gene: SOX9 were set to CAMPOMELIC DYSPLASIA,114290; Campomelic dysplasia with autosomal sex reversal, 114290; CAMPOMELIC DYSPLASIA; Cleft palate; Cleft palate with skeletal abnormalities; Orofacial Clefting with Skeletal Features; Acampomelic campomelic dysplasia, 114290
Clefting disorders v0.0 SON Zornitza Stark gene: SON was added
gene: SON was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: SON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SON were set to 27545680
Phenotypes for gene: SON were set to ZTTK SYNDROME; ZTTKS
Clefting disorders v0.0 SNRPB Zornitza Stark gene: SNRPB was added
gene: SNRPB was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SNRPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SNRPB were set to 25047197
Phenotypes for gene: SNRPB were set to CEREBROCOSTOMANDIBULAR SYNDROME; CCMS; Cleft palate
Clefting disorders v0.0 SMS Zornitza Stark gene: SMS was added
gene: SMS was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: SMS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SMS were set to MRXSSR; MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE
Clefting disorders v0.0 SMC3 Zornitza Stark gene: SMC3 was added
gene: SMC3 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMC3 were set to CORNELIA DE LANGE SYNDROME 3; CDLS3
Clefting disorders v0.0 SMC1A Zornitza Stark gene: SMC1A was added
gene: SMC1A was added to Clefting_GEL. Sources: Expert Review Green
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 CDLS2; CORNELIA DE LANGE SYNDROME 2
Clefting disorders v0.0 SMAD4 Zornitza Stark gene: SMAD4 was added
gene: SMAD4 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMAD4 were set to MYHRE SYNDROME; MYHRS
Clefting disorders v0.0 SMAD3 Zornitza Stark gene: SMAD3 was added
gene: SMAD3 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMAD3 were set to LOEYS-DIETZ SYNDROME 3; LDS3
Clefting disorders v0.0 SLC26A2 Zornitza Stark gene: SLC26A2 was added
gene: SLC26A2 was added to Clefting_GEL. Sources: Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC26A2 were set to 12866518; 25667404; 8931695; 8571951; 10465113; 18708426; 15316973; 11565064; 7923357
Phenotypes for gene: SLC26A2 were set to De la Chapelle dysplasia (includes clefting), 256050; DIASTROPHIC DYSPLASIA; Diastrophic dysplasia (includes clefting), 222600; Atelosteogenesis II (includes clefting), 256050; DTD; Diastrophic dysplasia, broad bonehplatyspondylic variant, 222600; McAlister Dysplasia; Orofacial Clefting with skeletal features
Clefting disorders v0.0 SKI Zornitza Stark gene: SKI was added
gene: SKI was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SKI were set to SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; SGS
Clefting disorders v0.0 SIX5 Zornitza Stark gene: SIX5 was added
gene: SIX5 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIX5 were set to BOR2; BRANCHIOOTORENAL SYNDROME 2
Clefting disorders v0.0 SIX3 Zornitza Stark gene: SIX3 was added
gene: SIX3 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIX3 were set to HOLOPROSENCEPHALY 2; HPE2
Clefting disorders v0.0 SIX1 Zornitza Stark gene: SIX1 was added
gene: SIX1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIX1 were set to BOS3; BRANCHIOOTIC SYNDROME 3
Clefting disorders v0.0 SHH Zornitza Stark gene: SHH was added
gene: SHH was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHH were set to HOLOPROSENCEPHALY 3; HPE3
Clefting disorders v0.0 SF3B4 Zornitza Stark gene: SF3B4 was added
gene: SF3B4 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: SF3B4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SF3B4 were set to 22541558
Phenotypes for gene: SF3B4 were set to ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1
Clefting disorders v0.0 SEPT9 Zornitza Stark gene: SEPT9 was added
gene: SEPT9 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: SEPT9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SEPT9 were set to HNA; AMYOTROPHY, HEREDITARY NEURALGIC
Clefting disorders v0.0 SCARF2 Zornitza Stark gene: SCARF2 was added
gene: SCARF2 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCARF2 were set to VDEGS; VAN DEN ENDE-GUPTA SYNDROME
Clefting disorders v0.0 SATB2 Zornitza Stark gene: SATB2 was added
gene: SATB2 was added to Clefting_GEL. Sources: Expert Review Green,UKGTN,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services
Mode of inheritance for gene: SATB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SATB2 were set to 16179223
Phenotypes for gene: SATB2 were set to Glass syndrome; GLASS SYNDROME; Cleft palate; GLASS; Cleft palate, intellectual disability, poor- absent speech, bone fragility- raised serum alkaline phosphatas; Chromosome 2q32-q33 deletion syndrome; Orofacial Clefting with skeletal features
Clefting disorders v0.0 SALL4 Zornitza Stark gene: SALL4 was added
gene: SALL4 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SALL4 were set to DUANE-RADIAL RAY SYNDROME; DRRS
Clefting disorders v0.0 RPS26 Zornitza Stark gene: RPS26 was added
gene: RPS26 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS26 were set to 20116044
Phenotypes for gene: RPS26 were set to DBA10; DIAMOND-BLACKFAN ANEMIA 10; Cleft palate
Clefting disorders v0.0 RPL5 Zornitza Stark gene: RPL5 was added
gene: RPL5 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL5 were set to 19061985
Phenotypes for gene: RPL5 were set to DIAMOND-BLACKFAN ANEMIA 6; Cleft palate; DBA6
Clefting disorders v0.0 ROR2 Zornitza Stark gene: ROR2 was added
gene: ROR2 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: ROR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ROR2 were set to ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS
Clefting disorders v0.0 RBM10 Zornitza Stark gene: RBM10 was added
gene: RBM10 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RBM10 were set to 20451169
Phenotypes for gene: RBM10 were set to TARPS; Cleft palate; TARP SYNDROME
Clefting disorders v0.0 PTCH1 Zornitza Stark gene: PTCH1 was added
gene: PTCH1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTCH1 were set to HPE7; BCNS, HOLOPROSENCEPHALY 7; BASAL CELL NEVUS SYNDROME
Clefting disorders v0.0 PORCN Zornitza Stark gene: PORCN was added
gene: PORCN was added to Clefting_GEL. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: PORCN 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: PORCN were set to 12071796; 21484999; 20301712; 10602117; 13948891; 18325042
Phenotypes for gene: PORCN were set to GOLTZ SYNDROME; Focal dermal hypoplasia, 305600
Clefting disorders v0.0 POLR1D Zornitza Stark gene: POLR1D was added
gene: POLR1D was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: POLR1D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: POLR1D were set to TCS2; TREACHER COLLINS SYNDROME 2
Clefting disorders v0.0 POLR1C Zornitza Stark gene: POLR1C was added
gene: POLR1C was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR1C were set to TREACHER COLLINS SYNDROME 3; TCS3
Clefting disorders v0.0 PIGV Zornitza Stark gene: PIGV was added
gene: PIGV was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGV were set to 24129430; 21739589
Phenotypes for gene: PIGV were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1
Clefting disorders v0.0 PIGN Zornitza Stark gene: PIGN was added
gene: PIGN was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGN were set to 27038415; 24852103
Phenotypes for gene: PIGN were set to MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1
Clefting disorders v0.0 PIEZO2 Zornitza Stark gene: PIEZO2 was added
gene: PIEZO2 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: PIEZO2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PIEZO2 were set to 24726473
Phenotypes for gene: PIEZO2 were set to MWKS; DA3, MARDEN-WALKER SYNDROME; ARTHROGRYPOSIS, DISTAL, TYPE 3
Clefting disorders v0.0 PHF8 Zornitza Stark gene: PHF8 was added
gene: PHF8 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PHF8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHF8 were set to MRXSSD; SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; Cleft lip
Clefting disorders v0.0 PAX3 Zornitza Stark gene: PAX3 was added
gene: PAX3 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX3 were set to WAARDENBURG
Clefting disorders v0.0 OFD1 Zornitza Stark gene: OFD1 was added
gene: OFD1 was added to Clefting_GEL. Sources: Expert Review Green
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; OFD1
Clefting disorders v0.0 NOTCH1 Zornitza Stark gene: NOTCH1 was added
gene: NOTCH1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NOTCH1 were set to ADAMS-OLIVER SYNDROME
Clefting disorders v0.0 NIPBL Zornitza Stark gene: NIPBL was added
gene: NIPBL was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NIPBL were set to CDLS1; CORNELIA DE LANGE SYNDROME 1
Clefting disorders v0.0 NEK1 Zornitza Stark gene: NEK1 was added
gene: NEK1 was added to Clefting_GEL. Sources: Expert Review Green
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; SRTD6
Clefting disorders v0.0 NEDD4L Zornitza Stark gene: NEDD4L was added
gene: NEDD4L was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services,Literature,Expert Review
Mode of inheritance for gene: NEDD4L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NEDD4L were set to 27694961
Phenotypes for gene: NEDD4L were set to Periventricular nodular heterotopia 7 (includes clefting), 617201; Cleft palate; Cleft palate, toe syndactyly, periventricular nodular heterotopia
Clefting disorders v0.0 NECTIN1 Zornitza Stark gene: NECTIN1 was added
gene: NECTIN1 was added to Clefting_GEL. Sources: Expert Review Green,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services
Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NECTIN1 were set to 10932188; 26953873; 11559849
Phenotypes for gene: NECTIN1 were set to Cleft Lip with or without Cleft Palate; CLP, partial syndactyly of digits, intellectual disability, dysmorphism; Orofacial cleft 7, 225060; Cleft lip/Palate ectodermal dysplasia syndrome, 225060; Ectodermal dysplasia, Margarita Island type; Cleft lip; Zlotogora-Ogur syndrome
Clefting disorders v0.0 MYMK Zornitza Stark gene: MYMK was added
gene: MYMK was added to Clefting_GEL. Sources: Expert Review Green,Literature
Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYMK were set to 28681861
Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome 254940
Clefting disorders v0.0 MSX1 Zornitza Stark gene: MSX1 was added
gene: MSX1 was added to Clefting_GEL. Sources: Expert Review Green,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services
Mode of inheritance for gene: MSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MSX1 were set to 16498076; 10742093; 27228008; 15264286; 12097313; 12807959; 25565750
Phenotypes for gene: MSX1 were set to Tooth agenesis, selective, 1, with or without orofacial cleft, 106600; Orofacial cleft 5, 608874; Cleft lip; CLP with dental anomalies
Clefting disorders v0.0 MKS1 Zornitza Stark gene: MKS1 was added
gene: MKS1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MKS1 were set to 24643152; 26037304; 25182137
Phenotypes for gene: MKS1 were set to Meckel syndrome 1, 249000; Meckel-Gruber Syndrome (MGS); MKS1
Clefting disorders v0.0 MID1 Zornitza Stark gene: MID1 was added
gene: MID1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: MID1 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: MID1 were set to OPITZ GBBB SYNDROME, TYPE I; GBBB1
Clefting disorders v0.0 MEIS2 Zornitza Stark gene: MEIS2 was added
gene: MEIS2 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services,Expert Review
Mode of inheritance for gene: MEIS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MEIS2 were set to 25712757; 27225850; 24678003
Phenotypes for gene: MEIS2 were set to intellectual disability; cardiac defects; Orofacial clefting; Cleft palate
Clefting disorders v0.0 MBTPS2 Zornitza Stark gene: MBTPS2 was added
gene: MBTPS2 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MBTPS2 were set to IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME
Clefting disorders v0.0 MASP1 Zornitza Stark gene: MASP1 was added
gene: MASP1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MASP1 were set to 3MC1; 3MC SYNDROME 1
Clefting disorders v0.0 MAPRE2 Zornitza Stark gene: MAPRE2 was added
gene: MAPRE2 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: MAPRE2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAPRE2 were set to SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2
Clefting disorders v0.0 MAP3K7 Zornitza Stark gene: MAP3K7 was added
gene: MAP3K7 was added to Clefting_GEL. Sources: 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 28498505; 25899317
Phenotypes for gene: MAP3K7 were set to AD-FMD; Frontometaphyseal dysplasia 2, 617137; autosomal dominant FMD; FMD2
Clefting disorders v0.0 KMT2D Zornitza Stark gene: KMT2D was added
gene: KMT2D was added to Clefting_GEL. Sources: Expert Review,Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Expert Review Green,Literature
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2D were set to 22126750; 20711175; 21671394; 26049589; 25142838
Phenotypes for gene: KMT2D were set to Kabuki syndrome 1, 147920
Clefting disorders v0.0 KIF7 Zornitza Stark gene: KIF7 was added
gene: KIF7 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF7 were set to 21552264
Phenotypes for gene: KIF7 were set to ACLS; ACROCALLOSAL SYNDROME
Clefting disorders v0.0 KIF1BP Zornitza Stark gene: KIF1BP was added
gene: KIF1BP was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF1BP were set to 16760737; 7338549
Phenotypes for gene: KIF1BP were set to GOSHS; Goldberg-Shprintzen megacolon syndrome, 609460
Clefting disorders v0.0 KIAA0586 Zornitza Stark gene: KIAA0586 was added
gene: KIAA0586 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIAA0586 were set to SRTD14; SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY
Clefting disorders v0.0 KDM6A Zornitza Stark gene: KDM6A was added
gene: KDM6A was added to Clefting_GEL. Sources: Expert Review,Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: KDM6A 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: KDM6A were set to 24664873; 22197486; 23076834
Phenotypes for gene: KDM6A were set to Kabuki syndrome 2, 300867
Clefting disorders v0.0 KCNJ2 Zornitza Stark gene: KCNJ2 was added
gene: KCNJ2 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNJ2 were set to 12163457
Phenotypes for gene: KCNJ2 were set to ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Cleft palate
Clefting disorders v0.0 KAT6A Zornitza Stark gene: KAT6A was added
gene: KAT6A was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KAT6A were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 32; MRD32
Clefting disorders v0.0 IRF6 Zornitza Stark gene: IRF6 was added
gene: IRF6 was added to Clefting_GEL. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: IRF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: IRF6 were set to lip pits; Cleft palate; Orofacial cleft 6, 608864; VWS1, POPLITEAL PTERYGIUM SYNDROME; Cleft Lip with or without Cleft Palate; VAN DER WOUDE SYNDROME 1; PPS; Cleft lip +/- palate- unilateral or bilateral; Orofacial Clefting with skeletal features; cleft palate
Clefting disorders v0.0 IMPAD1 Zornitza Stark gene: IMPAD1 was added
gene: IMPAD1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: IMPAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IMPAD1 were set to 22887726; 21549340
Phenotypes for gene: IMPAD1 were set to Chondrodysplasia with joint dislocations, GPAPP type, 614078 (includes cleft palate)
Clefting disorders v0.0 IFT80 Zornitza Stark gene: IFT80 was added
gene: IFT80 was added to Clefting_GEL. Sources: 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; SRTD2
Clefting disorders v0.0 IFT172 Zornitza Stark gene: IFT172 was added
gene: IFT172 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT172 were set to SRTD10; SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
Clefting disorders v0.0 IFT140 Zornitza Stark gene: IFT140 was added
gene: IFT140 was added to Clefting_GEL. Sources: 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 OR WITHOUT POLYDACTYLY; SRTD9
Clefting disorders v0.0 ICK Zornitza Stark gene: ICK was added
gene: ICK was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ICK were set to 19185282; 27069622; 24853502
Phenotypes for gene: ICK were set to ECO; Endocrine-cerebroosteodysplasia, 612651 (includes cleft lip, cleft palate)
Clefting disorders v0.0 HYLS1 Zornitza Stark gene: HYLS1 was added
gene: HYLS1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYLS1 were set to 3296755; 22029171; 8322817; 15843405
Phenotypes for gene: HYLS1 were set to Hydrolethalus syndrome, 236680 (includes Cleft palate, Lateral or midline cleft lip, Lower lip cleft)
Clefting disorders v0.0 HDAC8 Zornitza Stark gene: HDAC8 was added
gene: HDAC8 was added to Clefting_GEL. Sources: 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 CDLS5; CORNELIA DE LANGE SYNDROME 5
Clefting disorders v0.0 GRHL3 Zornitza Stark gene: GRHL3 was added
gene: GRHL3 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GRHL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GRHL3 were set to Cleft lip; VAN DER WOUDE SYNDROME 2
Clefting disorders v0.0 GPC3 Zornitza Stark gene: GPC3 was added
gene: GPC3 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: GPC3 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: GPC3 were set to SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1
Clefting disorders v0.0 GLI3 Zornitza Stark gene: GLI3 was added
gene: GLI3 was added to Clefting_GEL. Sources: Expert list,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GLI3 were set to 15739154; 24736735; 7211952; 20301638; 1605268
Phenotypes for gene: GLI3 were set to Pallister-Hall syndrome, 146510
Clefting disorders v0.0 GJA1 Zornitza Stark gene: GJA1 was added
gene: GJA1 was added to Clefting_GEL. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GJA1 were set to 1057461; 12457340; 19338053; 15108203
Phenotypes for gene: GJA1 were set to Oculodentodigital dysplasia,164200; ODDD
Clefting disorders v0.0 FRAS1 Zornitza Stark gene: FRAS1 was added
gene: FRAS1 was added to Clefting_GEL. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRAS1 were set to 17163535; 16894541; 18203166; 18671281
Phenotypes for gene: FRAS1 were set to Fraser syndrome, 219000
Clefting disorders v0.0 FOXC2 Zornitza Stark gene: FOXC2 was added
gene: FOXC2 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXC2 were set to Cleft palate; LYMPHEDEMA-DISTICHIASIS SYNDROME
Clefting disorders v0.0 FLNB Zornitza Stark gene: FLNB was added
gene: FLNB was added to Clefting_GEL. Sources: Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FLNB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FLNB were set to Spondylocarpotarsal synostosis syndrome (includes clefting), BIALLELIC, autosomal or pseudoautosomal, 272460; Atelosteogenesis, type I (includes clefting), MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, 108720; Atelosteogenesis, type III MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown (includes clefting), 108721; Larsen syndrome (includes clefting) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, 150250; Orofacial Clefting with skeletal features; Skeletal dysplasia with midline cleft palate
Clefting disorders v0.0 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to Clefting_GEL. Sources: Expert Review Green,UKGTN
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)
Publications for gene: FLNA were set to 10706363; 20301567; 12612583; 16538226
Phenotypes for gene: FLNA were set to OTOPALATODIGITAL SYNDROME, TYPE I; Otopalatodigital syndrome, type II, 304120 (includes clefting); Orofacial Clefting with skeletal anomalies; OPD1, OTOPALATODIGITAL SYNDROME, TYPE II; OPD2, FRONTOMETAPHYSEAL DYSPLASIA 1; FMD1; Melnick-Needles syndrome, 309350 (includes clefting); Otopalatodigital syndrome, type I, 311300 (includes clefting)
Clefting disorders v0.0 FGFR2 Zornitza Stark gene: FGFR2 was added
gene: FGFR2 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGFR2 were set to APERT SYNDROME
Clefting disorders v0.0 FGFR1 Zornitza Stark gene: FGFR1 was added
gene: FGFR1 was added to Clefting_GEL. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FGFR1 were set to 19504604; 25394172; 1342859; 16606836; 14564207; 12627230
Phenotypes for gene: FGFR1 were set to Kallmann syndrome 2; Hartsfield syndrome, 615465; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950
Clefting disorders v0.0 FGD1 Zornitza Stark gene: FGD1 was added
gene: FGD1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FGD1 were set to 20082460
Phenotypes for gene: FGD1 were set to AARSKOG-SCOTT SYNDROME; AAS
Clefting disorders v0.0 FAM20C Zornitza Stark gene: FAM20C was added
gene: FAM20C was added to Clefting_GEL. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM20C were set to 2194867118000911; 2614802; 25974638; 17924334; 10482879
Phenotypes for gene: FAM20C were set to Raine syndrome, 259775
Clefting disorders v0.0 EYA1 Zornitza Stark gene: EYA1 was added
gene: EYA1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EYA1 were set to BOR1; BRANCHIOOTORENAL SYNDROME 1
Clefting disorders v0.0 ESCO2 Zornitza Stark gene: ESCO2 was added
gene: ESCO2 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESCO2 were set to ROBERTS SYNDROME; RBS, SC PHOCOMELIA SYNDROME
Clefting disorders v0.0 EPG5 Zornitza Stark gene: EPG5 was added
gene: EPG5 was added to Clefting_GEL. Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPG5 were set to 23222957; 26927810; 20583151; 3344762; 17163544
Phenotypes for gene: EPG5 were set to Vici syndrome, 242840
Clefting disorders v0.0 EOGT Zornitza Stark gene: EOGT was added
gene: EOGT was added to Clefting_GEL. Sources: 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
Clefting disorders v0.0 EIF4A3 Zornitza Stark gene: EIF4A3 was added
gene: EIF4A3 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EIF4A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF4A3 were set to 10594883; 29112243; 29922329
Phenotypes for gene: EIF4A3 were set to Richieri-Costa-Pereira syndrome; Robin sequence with cleft mandible and limb anomalies, 268305; Cleft palate
Clefting disorders v0.0 EIF2S3 Zornitza Stark gene: EIF2S3 was added
gene: EIF2S3 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EIF2S3 were set to MRXSBRK; MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORCK TYPE
Clefting disorders v0.0 EFTUD2 Zornitza Stark gene: EFTUD2 was added
gene: EFTUD2 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EFTUD2 were set to MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE; MFDGA
Clefting disorders v0.0 EFNB1 Zornitza Stark gene: EFNB1 was added
gene: EFNB1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: EFNB1 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: EFNB1 were set to CRANIOFRONTONASAL SYNDROME; CFNS
Clefting disorders v0.0 EDNRA Zornitza Stark gene: EDNRA was added
gene: EDNRA was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EDNRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EDNRA were set to MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA; MFDA; Cleft palate
Clefting disorders v0.0 EBP Zornitza Stark gene: EBP was added
gene: EBP was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EBP were set to MEND SYNDROME; MEND
Clefting disorders v0.0 DYNC2LI1 Zornitza Stark gene: DYNC2LI1 was added
gene: DYNC2LI1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2LI1 were set to SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15
Clefting disorders v0.0 DYNC2H1 Zornitza Stark gene: DYNC2H1 was added
gene: DYNC2H1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2H1 were set to SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3
Clefting disorders v0.0 DVL3 Zornitza Stark gene: DVL3 was added
gene: DVL3 was added to Clefting_GEL. Sources: Expert Review Green,Other
Mode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DVL3 were set to 26924530; 29575616
Phenotypes for gene: DVL3 were set to Robinow syndrome, autosomal dominant 3, 616894
Clefting disorders v0.0 DVL1 Zornitza Stark gene: DVL1 was added
gene: DVL1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: DVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DVL1 were set to DRS2; ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
Clefting disorders v0.0 DOCK6 Zornitza Stark gene: DOCK6 was added
gene: DOCK6 was added to Clefting_GEL. Sources: 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
Clefting disorders v0.0 DLL4 Zornitza Stark gene: DLL4 was added
gene: DLL4 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: DLL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DLL4 were set to ADAMS-OLIVER SYNDROME
Clefting disorders v0.0 DHODH Zornitza Stark gene: DHODH was added
gene: DHODH was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHODH were set to POADS = MILLER; POSTAXIAL ACROFACIAL DYSOSTOSIS
Clefting disorders v0.0 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR7 were set to SMITH-LEMLI-OPITZ SYNDROME; SLOS
Clefting disorders v0.0 CTNND1 Zornitza Stark gene: CTNND1 was added
gene: CTNND1 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CTNND1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTNND1 were set to 28301459
Phenotypes for gene: CTNND1 were set to BLEPHAROCHEILODONTIC; Cleft palate
Clefting disorders v0.0 CTCF Zornitza Stark gene: CTCF was added
gene: CTCF was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: CTCF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CTCF were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21
Clefting disorders v0.0 COLEC11 Zornitza Stark gene: COLEC11 was added
gene: COLEC11 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLEC11 were set to 3MC2; 3MC SYNDROME 2
Clefting disorders v0.0 COLEC10 Zornitza Stark gene: COLEC10 was added
gene: COLEC10 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: COLEC10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COLEC10 were set to 21258343
Phenotypes for gene: COLEC10 were set to 3MC SYNDROME 3; 3MC3
Clefting disorders v0.0 COL9A1 Zornitza Stark gene: COL9A1 was added
gene: COL9A1 was added to Clefting_GEL. Sources: Expert Review Green,UKGTN,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL9A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL9A1 were set to 16909383; 21421862
Phenotypes for gene: COL9A1 were set to Autosomal recessive Stickler syndrome; Stickler syndrome, type IV (ophthalmological: myopia, retinal detachment and cataracts, orofacial: micrognathia, midface hypoplasia and cleft palate, auditory:sensorineural hearing loss and articular: epiphyseal dysplasia) symptoms; Orofacial Clefting with skeletal features; Cleft palate
Clefting disorders v0.0 COL2A1 Zornitza Stark gene: COL2A1 was added
gene: COL2A1 was added to Clefting_GEL. Sources: Expert Review Green,UKGTN,Victorian Clinical Genetics Services,Eligibility statement prior genetic testing
Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COL2A1 were set to 16752401; 17721977; 1677770
Phenotypes for gene: COL2A1 were set to STL1; Stickler syndrome (cleft palate,micrognathia,vireo-retinal anomalies, severe myopia, joint problems, hearing loss); Stickler sydrome, type I, non syndromic ocular; Cleft palate; STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE; ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE, AOM; STICKLER SYNDROME, TYPE I; Orofacial Clefting with skeletal features; Stickler Syndrome; STICKLER SYNDROME, TYPE I (STL1), 108300; STICKLER SYNDROME, VITREOUS TYPE 1
Clefting disorders v0.0 COL11A2 Zornitza Stark gene: COL11A2 was added
gene: COL11A2 was added to Clefting_GEL. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: COL11A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL11A2 were set to Cleft palate; OSMED; STL3; Stickler syndrome, type III; Non-ocular Stickler syndrome; STICKLER SYNDROME, NONOCULAR TYPE
Clefting disorders v0.0 COL11A1 Zornitza Stark gene: COL11A1 was added
gene: COL11A1 was added to Clefting_GEL. Sources: Expert Review Green,UKGTN,Victorian Clinical Genetics Services,Eligibility statement prior genetic testing
Mode of inheritance for gene: COL11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL11A1 were set to Orofacial Clefting with skeletal features; Stickler Syndrome; Cleft palate
Clefting disorders v0.0 CHST14 Zornitza Stark gene: CHST14 was added
gene: CHST14 was added to Clefting_GEL. Sources: Expert Review Green
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; EDSMC1
Clefting disorders v0.0 CHRNG Zornitza Stark gene: CHRNG was added
gene: CHRNG was added to Clefting_GEL. Sources: Expert list,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRNG were set to 16826520; 22167768; 27843868
Phenotypes for gene: CHRNG were set to PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE; MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE; Multiple pterygium syndrome, lethal type, 253290; Escobar syndrome, 265000
Clefting disorders v0.0 CHD7 Zornitza Stark gene: CHD7 was added
gene: CHD7 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHD7 were set to CHARGE SYNDROME
Clefting disorders v0.0 CDKN1C Zornitza Stark gene: CDKN1C was added
gene: CDKN1C was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: CDKN1C were set to 20503313
Phenotypes for gene: CDKN1C were set to BECKWITH-WIEDEMANN SYNDROME; BWS
Clefting disorders v0.0 CDH1 Zornitza Stark gene: CDH1 was added
gene: CDH1 was added to Clefting_GEL. Sources: Expert Review Green,Other
Mode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDH1 were set to 27566442; 28301459
Phenotypes for gene: CDH1 were set to Blepharocheilodontic syndrome 1; BLEPHAROCHEILODONTIC
Clefting disorders v0.0 CC2D2A Zornitza Stark gene: CC2D2A was added
gene: CC2D2A was added to Clefting_GEL. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CC2D2A were set to 18513680; 19777577
Phenotypes for gene: CC2D2A were set to MKS6; Meckel-Gruber syndrome; Meckel syndrome 6, 612284
Clefting disorders v0.0 C5orf42 Zornitza Stark gene: C5orf42 was added
gene: C5orf42 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C5orf42 were set to OFD6; OROFACIODIGITAL SYNDROME VI
Clefting disorders v0.0 C2CD3 Zornitza Stark gene: C2CD3 was added
gene: C2CD3 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C2CD3 were set to OFD14; OROFACIODIGITAL SYNDROME XIV
Clefting disorders v0.0 BMP2 Zornitza Stark gene: BMP2 was added
gene: BMP2 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BMP2 were set to 29198724; 21671386
Phenotypes for gene: BMP2 were set to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877; Cleft palate
Clefting disorders v0.0 BCOR Zornitza Stark gene: BCOR was added
gene: BCOR was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: BCOR 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: BCOR were set to MCOPS2; MICROPHTHALMIA, SYNDROMIC 2
Clefting disorders v0.0 B3GLCT Zornitza Stark gene: B3GLCT was added
gene: B3GLCT was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GLCT were set to PETERS-PLUS SYNDROME
Clefting disorders v0.0 ASXL1 Zornitza Stark gene: ASXL1 was added
gene: ASXL1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ASXL1 were set to BOPS; BOHRING-OPITZ SYNDROME
Clefting disorders v0.0 ARHGAP31 Zornitza Stark gene: ARHGAP31 was added
gene: ARHGAP31 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ARHGAP31 were set to AOS1; ADAMS-OLIVER SYNDROME 1
Clefting disorders v0.0 ARHGAP29 Zornitza Stark gene: ARHGAP29 was added
gene: ARHGAP29 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services,Research
Mode of inheritance for gene: ARHGAP29 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARHGAP29 were set to 23008150; 27369588; 25704602; 27350171; 25512736; 27033726; 28029220
Phenotypes for gene: ARHGAP29 were set to cleft lip with or without cleft palate; Cleft palate
Clefting disorders v0.0 ANKRD11 Zornitza Stark gene: ANKRD11 was added
gene: ANKRD11 was added to Clefting_GEL. Sources: Expert Review Green,UKGTN,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANKRD11 were set to 25838844; 2705097; 21782149; 27900361
Phenotypes for gene: ANKRD11 were set to Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome; Orofacial Clefting with skeletal features; KBG syndrome,148050 (orofacial clefting, intellectual disability, dental anomalies, dysmorphism)
Clefting disorders v0.0 AMER1 Zornitza Stark gene: AMER1 was added
gene: AMER1 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
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; OSCS; Cleft palate
Clefting disorders v0.0 ACTG1 Zornitza Stark gene: ACTG1 was added
gene: ACTG1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ACTG1 were set to 22366783
Phenotypes for gene: ACTG1 were set to BARAITSER-WINTER SYNDROME 2; BRWS2
Clefting disorders v0.0 ACTB Zornitza Stark gene: ACTB was added
gene: ACTB was added to Clefting_GEL. Sources: 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 22366783
Phenotypes for gene: ACTB were set to BRWS1; BARAITSER-WINTER SYNDROME 1
Clefting disorders v0.0 Zornitza Stark Added panel Clefting_GEL
Intellectual disability syndromic and non-syndromic v0.3007 VPS11 Zornitza Stark Tag founder tag was added to gene: VPS11.
Genetic Epilepsy v0.860 VPS11 Zornitza Stark Tag founder tag was added to gene: VPS11.
Mendeliome v0.4473 VPS11 Zornitza Stark Marked gene: VPS11 as ready
Mendeliome v0.4473 VPS11 Zornitza Stark Gene: vps11 has been classified as Green List (High Evidence).
Mendeliome v0.4473 VPS11 Zornitza Stark Phenotypes for gene: VPS11 were changed from to Leukodystrophy, hypomyelinating, 12, MIM# 616683
Mendeliome v0.4472 VPS11 Zornitza Stark Publications for gene: VPS11 were set to
Mendeliome v0.4471 VPS11 Zornitza Stark Mode of inheritance for gene: VPS11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4470 VPS11 Zornitza Stark Tag founder tag was added to gene: VPS11.
Mendeliome v0.4470 VPS11 Zornitza Stark reviewed gene: VPS11: Rating: GREEN; Mode of pathogenicity: None; Publications: 27120463, 26307567, 27473128; Phenotypes: Leukodystrophy, hypomyelinating, 12, MIM# 616683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.201 VPS11 Zornitza Stark Marked gene: VPS11 as ready
Leukodystrophy - paediatric v0.201 VPS11 Zornitza Stark Gene: vps11 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.201 VPS11 Zornitza Stark Tag founder tag was added to gene: VPS11.
Leukodystrophy - paediatric v0.201 VPS11 Zornitza Stark Publications for gene: VPS11 were set to
Leukodystrophy - paediatric v0.200 VPS11 Zornitza Stark reviewed gene: VPS11: Rating: GREEN; Mode of pathogenicity: None; Publications: 27120463, 26307567, 27473128; Phenotypes: Leukodystrophy, hypomyelinating, 12, MIM# 616683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.200 WARS2 Zornitza Stark Marked gene: WARS2 as ready
Leukodystrophy - paediatric v0.200 WARS2 Zornitza Stark Gene: wars2 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.200 WARS2 Zornitza Stark Publications for gene: WARS2 were set to
Leukodystrophy - paediatric v0.199 WARS2 Zornitza Stark reviewed gene: WARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31282308, 28650581, 30920170; Phenotypes: Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM# 617710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.199 ZFYVE26 Zornitza Stark Publications for gene: ZFYVE26 were set to
Leukodystrophy - paediatric v0.198 ZFYVE26 Zornitza Stark edited their review of gene: ZFYVE26: Changed publications: 19084844
Leukodystrophy - paediatric v0.198 TWNK Zornitza Stark Marked gene: TWNK as ready
Leukodystrophy - paediatric v0.198 TWNK Zornitza Stark Gene: twnk has been classified as Amber List (Moderate Evidence).
Leukodystrophy - paediatric v0.198 TWNK Zornitza Stark Classified gene: TWNK as Amber List (moderate evidence)
Leukodystrophy - paediatric v0.198 TWNK Zornitza Stark Gene: twnk has been classified as Amber List (Moderate Evidence).
Leukodystrophy - paediatric v0.197 TWNK Zornitza Stark gene: TWNK was added
gene: TWNK was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TWNK were set to 31455269; 19353676
Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM# 271245
Review for gene: TWNK was set to AMBER
Added comment: Two reports of white matter changes: one in a woman diagnosed with PEO and mono-allelic variant and an infant diagnosed with mitochondrial depletion syndrome and bi-allelic variants.
Sources: Expert list
Leukodystrophy - paediatric v0.196 TUFM Zornitza Stark Marked gene: TUFM as ready
Leukodystrophy - paediatric v0.196 TUFM Zornitza Stark Gene: tufm has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.196 TUFM Zornitza Stark Phenotypes for gene: TUFM were changed from Mitochondrial Leukoencephalopathy to Combined oxidative phosphorylation deficiency 4, MIM# 610678; Mitochondrial Leukoencephalopathy
Leukodystrophy - paediatric v0.195 TUFM Zornitza Stark Publications for gene: TUFM were set to
Leukodystrophy - paediatric v0.194 TUFM Zornitza Stark reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132884, 26741492, 17160893; Phenotypes: Combined oxidative phosphorylation deficiency 4, MIM# 610678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.194 TMEM106B Zornitza Stark Deleted their comment
Leukodystrophy - paediatric v0.194 SDHA Zornitza Stark reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22972948; Phenotypes: Mitochondrial respiratory chain complex II deficiency, MIM#252011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.194 PC Zornitza Stark Marked gene: PC as ready
Leukodystrophy - paediatric v0.194 PC Zornitza Stark Gene: pc has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.194 PC Zornitza Stark reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate carboxylase deficiency, MIM# 266150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.194 PAFAH1B1 Zornitza Stark Marked gene: PAFAH1B1 as ready
Leukodystrophy - paediatric v0.194 PAFAH1B1 Zornitza Stark Gene: pafah1b1 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.194 PAFAH1B1 Zornitza Stark Classified gene: PAFAH1B1 as Green List (high evidence)
Leukodystrophy - paediatric v0.194 PAFAH1B1 Zornitza Stark Gene: pafah1b1 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.193 PAFAH1B1 Zornitza Stark gene: PAFAH1B1 was added
gene: PAFAH1B1 was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: PAFAH1B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAFAH1B1 were set to 31370080; 30568308; 20301752
Phenotypes for gene: PAFAH1B1 were set to Lissencephaly 1, MIM# 607432; Subcortical laminar heterotopia, MIM# 607432; MONDO:0011830
Review for gene: PAFAH1B1 was set to GREEN
Added comment: White matter abnormalities are part of the phenotype.
Sources: Expert list
Mendeliome v0.4470 GGT1 Zornitza Stark Marked gene: GGT1 as ready
Mendeliome v0.4470 GGT1 Zornitza Stark Gene: ggt1 has been classified as Red List (Low Evidence).
Mendeliome v0.4470 GGT1 Zornitza Stark Phenotypes for gene: GGT1 were changed from to ?Glutathioninuria 231950
Mendeliome v0.4469 GGT1 Zornitza Stark Publications for gene: GGT1 were set to
Mendeliome v0.4468 GGT1 Zornitza Stark Mode of inheritance for gene: GGT1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.4467 GGT1 Zornitza Stark Classified gene: GGT1 as Red List (low evidence)
Mendeliome v0.4467 GGT1 Zornitza Stark Gene: ggt1 has been classified as Red List (Low Evidence).
Mendeliome v0.4466 GGT1 Elena Savva edited their review of gene: GGT1: Added comment: PMID: 29483667 - 1 family (2 sibs) w/ a homozygous 16.9kb deletion spanning part of the gene and no others. Carrier parents were normal.

PMID: 23615310 - homozygous mutant mouse model have dwarfism, cataracts and coat colour abnormalities. Protein activity reduced to 4% of wildtype. Noted it was for use as a GGT deficiency model.

PMID: 31520399 - 2 families with AD inheritance showing GGT1 deficiency but NO clinical symptoms. Authors call GGTemia a benign condition.; Changed publications: PMID: 29483667, 23615310, 31520399
Leukodystrophy - paediatric v0.192 NFU1 Zornitza Stark Marked gene: NFU1 as ready
Leukodystrophy - paediatric v0.192 NFU1 Zornitza Stark Gene: nfu1 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.192 NFU1 Zornitza Stark Publications for gene: NFU1 were set to 29441221
Leukodystrophy - paediatric v0.191 NFU1 Zornitza Stark reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21944046, 22077971, 32747156, 29441221; Phenotypes: Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4466 NAXE Zornitza Stark Marked gene: NAXE as ready
Mendeliome v0.4466 NAXE Zornitza Stark Gene: naxe has been classified as Green List (High Evidence).
Mendeliome v0.4466 NAXE Zornitza Stark Phenotypes for gene: NAXE were changed from to Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186
Mendeliome v0.4465 NAXE Zornitza Stark Publications for gene: NAXE were set to
Mendeliome v0.4464 NAXE Zornitza Stark Mode of inheritance for gene: NAXE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4463 NAXE Zornitza Stark changed review comment from: Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. More than 5 unrelated families reported.; to: Early-onset progressive encephalopathy with brain oedema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. More than 5 unrelated families reported.
Mendeliome v0.4463 NAXE Zornitza Stark reviewed gene: NAXE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27122014, 27616477, 31758406; Phenotypes: Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.496 NAXE Zornitza Stark Marked gene: NAXE as ready
Mitochondrial disease v0.496 NAXE Zornitza Stark Gene: naxe has been classified as Green List (High Evidence).
Mitochondrial disease v0.496 NAXE Zornitza Stark Phenotypes for gene: NAXE were changed from to Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186
Mitochondrial disease v0.495 NAXE Zornitza Stark Publications for gene: NAXE were set to
Mitochondrial disease v0.494 NAXE Zornitza Stark Mode of inheritance for gene: NAXE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.493 NAXE Zornitza Stark commented on gene: NAXE: Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. More than 5 unrelated families reported.
Mitochondrial disease v0.493 NAXE Zornitza Stark reviewed gene: NAXE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27122014, 27616477, 31758406; Phenotypes: Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.191 NAXE Zornitza Stark Marked gene: NAXE as ready
Leukodystrophy - paediatric v0.191 NAXE Zornitza Stark Gene: naxe has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.191 NAXE Zornitza Stark Publications for gene: NAXE were set to
Leukodystrophy - paediatric v0.190 NAXE Zornitza Stark reviewed gene: NAXE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27122014, 27616477, 31758406; Phenotypes: Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4463 NAXD Zornitza Stark Marked gene: NAXD as ready
Mendeliome v0.4463 NAXD Zornitza Stark Gene: naxd has been classified as Green List (High Evidence).
Mendeliome v0.4463 NAXD Zornitza Stark Phenotypes for gene: NAXD were changed from to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321
Mendeliome v0.4462 NAXD Zornitza Stark Publications for gene: NAXD were set to
Mendeliome v0.4461 NAXD Zornitza Stark Mode of inheritance for gene: NAXD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.190 NAXD Zornitza Stark Publications for gene: NAXD were set to 32462209
Leukodystrophy - paediatric v0.189 NAXD Zornitza Stark edited their review of gene: NAXD: Changed publications: 30576410, 31755961, 32462209
Leukodystrophy - paediatric v0.189 NAXD Zornitza Stark changed review comment from: Variable phenotype: one patient reported with neurodevelopmental disorder, autism spectrum disorder and a muscular-dystrophy-like myopathy; another with progressive encephalopathy with brain oedema.
Sources: Expert list; to: Seven unrelated cases, episodes of fever/infection prior to deterioration reported. Variable phenotype: one patient reported with neurodevelopmental disorder, autism spectrum disorder and a muscular-dystrophy-like myopathy; another with progressive encephalopathy with brain oedema. Patient cells and muscle biopsies also showed impaired mitochondrial function, higher sensitivity to metabolic stress, and decreased mitochondrial reactive oxygen species production. In vitro functional assays also conducted.Sources: Expert list
Mendeliome v0.4460 NAXD Zornitza Stark reviewed gene: NAXD: Rating: GREEN; Mode of pathogenicity: None; Publications: 30576410, 31755961, 32462209; Phenotypes: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.189 NAXD Zornitza Stark edited their review of gene: NAXD: Changed publications: 32462209, 30576410
Leukodystrophy - paediatric v0.189 MEF2C Zornitza Stark Marked gene: MEF2C as ready
Leukodystrophy - paediatric v0.189 MEF2C Zornitza Stark Gene: mef2c has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.189 MEF2C Zornitza Stark Classified gene: MEF2C as Green List (high evidence)
Leukodystrophy - paediatric v0.189 MEF2C Zornitza Stark Gene: mef2c has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.188 MEF2C Zornitza Stark gene: MEF2C was added
gene: MEF2C was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: MEF2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MEF2C were set to 27255693; 20333642
Phenotypes for gene: MEF2C were set to Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443
Review for gene: MEF2C was set to GREEN
Added comment: Delayed myelination and periventricular white matter hyperintensities reported in this syndrome.
Sources: Expert list
Leukodystrophy - paediatric v0.187 KIF5A Zornitza Stark Marked gene: KIF5A as ready
Leukodystrophy - paediatric v0.187 KIF5A Zornitza Stark Gene: kif5a has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.187 KIF5A Zornitza Stark Publications for gene: KIF5A were set to
Leukodystrophy - paediatric v0.186 KIF5A Zornitza Stark reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27463701, 27414745; Phenotypes: Myoclonus, intractable, neonatal, MIM# 617235; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.163 ISCA2 Zornitza Stark Marked gene: ISCA2 as ready
Regression v0.163 ISCA2 Zornitza Stark Gene: isca2 has been classified as Green List (High Evidence).
Regression v0.163 ISCA2 Zornitza Stark Classified gene: ISCA2 as Green List (high evidence)
Regression v0.163 ISCA2 Zornitza Stark Gene: isca2 has been classified as Green List (High Evidence).
Regression v0.162 ISCA2 Zornitza Stark gene: ISCA2 was added
gene: ISCA2 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA2 were set to 25539947; 29297947; 29122497; 29359243
Phenotypes for gene: ISCA2 were set to Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370
Review for gene: ISCA2 was set to GREEN
Added comment: Over 10 unrelated families reported with bi-allelic variants in this gene and a neurodegenerative disorder that usually results in death in early childhood. Affected individuals have normal development for the first months of life, but thereafter show progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus. Patients regress to a vegetative state with lack of eye contact and speech, and poor feeding. Most patients have optic atrophy, and some may develop seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord.
Sources: Expert Review
Mitochondrial disease v0.493 ISCA2 Zornitza Stark Marked gene: ISCA2 as ready
Mitochondrial disease v0.493 ISCA2 Zornitza Stark Gene: isca2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.493 ISCA2 Zornitza Stark Phenotypes for gene: ISCA2 were changed from to Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370
Mitochondrial disease v0.492 ISCA2 Zornitza Stark Publications for gene: ISCA2 were set to
Mitochondrial disease v0.491 ISCA2 Zornitza Stark Mode of inheritance for gene: ISCA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.490 ISCA2 Zornitza Stark reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25539947, 29297947, 29122497, 29359243; Phenotypes: Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4460 ISCA2 Zornitza Stark Marked gene: ISCA2 as ready
Mendeliome v0.4460 ISCA2 Zornitza Stark Gene: isca2 has been classified as Green List (High Evidence).
Mendeliome v0.4460 ISCA2 Zornitza Stark Phenotypes for gene: ISCA2 were changed from to Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370
Mendeliome v0.4459 ISCA2 Zornitza Stark Publications for gene: ISCA2 were set to
Mendeliome v0.4458 ISCA2 Zornitza Stark Mode of inheritance for gene: ISCA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4457 ISCA2 Zornitza Stark reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25539947, 29297947, 29122497, 29359243; Phenotypes: Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.186 ISCA2 Zornitza Stark Marked gene: ISCA2 as ready
Leukodystrophy - paediatric v0.186 ISCA2 Zornitza Stark Gene: isca2 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.186 ISCA2 Zornitza Stark Publications for gene: ISCA2 were set to
Leukodystrophy - paediatric v0.185 ISCA2 Zornitza Stark reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25539947, 29297947, 29122497, 29359243; Phenotypes: Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.23 ISCA1 Zornitza Stark gene: ISCA1 was added
gene: ISCA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA1 were set to 28356563; 32092383; 31016283; 30113620; 30105122
Phenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613
Review for gene: ISCA1 was set to GREEN
Added comment: Multiple unrelated families reported. Severe disorder characterised by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Rat model results in early lethality. Founder variant c.259G > A, p.(Glu87Lys) reported in Indian families.
Sources: Expert Review
Leukodystrophy - paediatric v0.185 HSPD1 Zornitza Stark Marked gene: HSPD1 as ready
Leukodystrophy - paediatric v0.185 HSPD1 Zornitza Stark Gene: hspd1 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.185 HSPD1 Zornitza Stark Publications for gene: HSPD1 were set to
Leukodystrophy - paediatric v0.184 HSPD1 Zornitza Stark Mode of inheritance for gene: HSPD1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.183 HSPD1 Zornitza Stark reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18571143, 27405012, 32532876, 28377887, 27405012; Phenotypes: Leukodystrophy, hypomyelinating, 4, MIM# 612233; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.183 HMGCL Zornitza Stark Marked gene: HMGCL as ready
Leukodystrophy - paediatric v0.183 HMGCL Zornitza Stark Gene: hmgcl has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.183 HMGCL Zornitza Stark Publications for gene: HMGCL were set to
Leukodystrophy - paediatric v0.182 HMGCL Zornitza Stark reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 11461194; Phenotypes: HMG-CoA lyase deficiency, MIM# 246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.182 FA2H Zornitza Stark Marked gene: FA2H as ready
Leukodystrophy - paediatric v0.182 FA2H Zornitza Stark Gene: fa2h has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.182 FA2H Zornitza Stark Publications for gene: FA2H were set to
Leukodystrophy - paediatric v0.181 FA2H Zornitza Stark reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: None; Publications: 31837835, 30446360, 22965561, 21592092; Phenotypes: Spastic paraplegia 35, autosomal recessive, MIM# 612319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.181 CNTNAP1 Zornitza Stark Marked gene: CNTNAP1 as ready
Leukodystrophy - paediatric v0.181 CNTNAP1 Zornitza Stark Gene: cntnap1 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.181 CNTNAP1 Zornitza Stark Phenotypes for gene: CNTNAP1 were changed from Hypomyelinating neuropathy, congenital, 3, MIM#618186 to Hypomyelinating neuropathy, congenital, 3, MIM# 618186; Lethal congenital contracture syndrome 7, MIM# 616286
Leukodystrophy - paediatric v0.180 CNTNAP1 Zornitza Stark Publications for gene: CNTNAP1 were set to
Leukodystrophy - paediatric v0.179 CNTNAP1 Zornitza Stark reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28374019, 29882456; Phenotypes: Hypomyelinating neuropathy, congenital, 3, MIM# 618186, Lethal congenital contracture syndrome 7, MIM# 616286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.179 CLPP Zornitza Stark Marked gene: CLPP as ready
Leukodystrophy - paediatric v0.179 CLPP Zornitza Stark Gene: clpp has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.179 CLPP Zornitza Stark reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: None; Publications: 27899912; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.179 BOLA3 Zornitza Stark Marked gene: BOLA3 as ready
Leukodystrophy - paediatric v0.179 BOLA3 Zornitza Stark Gene: bola3 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.179 BOLA3 Zornitza Stark Publications for gene: BOLA3 were set to
Leukodystrophy - paediatric v0.178 BOLA3 Zornitza Stark reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30302924, 29654549, 30302924; Phenotypes: Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4457 PRIMPOL Zornitza Stark Marked gene: PRIMPOL as ready
Mendeliome v0.4457 PRIMPOL Zornitza Stark Gene: primpol has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4457 PRIMPOL Zornitza Stark Phenotypes for gene: PRIMPOL were changed from to Myopia 22, autosomal dominant, MIM# 615420
Mendeliome v0.4456 PRIMPOL Zornitza Stark Publications for gene: PRIMPOL were set to
Mendeliome v0.4455 PRIMPOL Zornitza Stark Mode of inheritance for gene: PRIMPOL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4454 PRIMPOL Zornitza Stark Classified gene: PRIMPOL as Amber List (moderate evidence)
Mendeliome v0.4454 PRIMPOL Zornitza Stark Gene: primpol has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4453 PRIMPOL Zornitza Stark reviewed gene: PRIMPOL: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopia 22, autosomal dominant, MIM# 615420; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4453 PRIMPOL Teresa Zhao reviewed gene: PRIMPOL: Rating: GREEN; Mode of pathogenicity: None; Publications: 23579484, 25262353, 27230014, 32375772; Phenotypes: Myopia 22 (MIM#615420) AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Leukodystrophy - paediatric v0.178 AIFM1 Zornitza Stark Marked gene: AIFM1 as ready
Leukodystrophy - paediatric v0.178 AIFM1 Zornitza Stark Gene: aifm1 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.178 AIFM1 Zornitza Stark Phenotypes for gene: AIFM1 were changed from hypomyelinating leukodystrophy and spondylometaphyseal dysplasia to Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232
Leukodystrophy - paediatric v0.177 AIFM1 Zornitza Stark Publications for gene: AIFM1 were set to 28842795
Leukodystrophy - paediatric v0.176 AIFM1 Zornitza Stark reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28842795, 27102849; Phenotypes: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Leukodystrophy - paediatric v0.176 ABCD1 Zornitza Stark Marked gene: ABCD1 as ready
Leukodystrophy - paediatric v0.176 ABCD1 Zornitza Stark Gene: abcd1 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.176 ABCD1 Zornitza Stark Classified gene: ABCD1 as Green List (high evidence)
Leukodystrophy - paediatric v0.176 ABCD1 Zornitza Stark Gene: abcd1 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.175 ABCD1 Zornitza Stark gene: ABCD1 was added
gene: ABCD1 was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCD1 were set to Adrenoleukodystrophy, MIM# 300100
Review for gene: ABCD1 was set to GREEN
Added comment: Well established gene-disease association, variable age of onset from childhood to adulthood.
Sources: Expert list
Red cell disorders v0.0 Zornitza Stark Panel deleted
Mendeliome v0.4453 KCNN4 Zornitza Stark Marked gene: KCNN4 as ready
Mendeliome v0.4453 KCNN4 Zornitza Stark Gene: kcnn4 has been classified as Green List (High Evidence).
Mendeliome v0.4453 KCNN4 Zornitza Stark Classified gene: KCNN4 as Green List (high evidence)
Mendeliome v0.4453 KCNN4 Zornitza Stark Gene: kcnn4 has been classified as Green List (High Evidence).
Mendeliome v0.4452 KCNN4 Zornitza Stark gene: KCNN4 was added
gene: KCNN4 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: KCNN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNN4 were set to 26148990; 26198474; 26178367
Phenotypes for gene: KCNN4 were set to Dehydrated hereditary stomatocytosis 2, MIM# 616689
Review for gene: KCNN4 was set to GREEN
Added comment: At least three families reported.
Sources: Expert list
Mendeliome v0.4451 C15orf41 Zornitza Stark Marked gene: C15orf41 as ready
Mendeliome v0.4451 C15orf41 Zornitza Stark Gene: c15orf41 has been classified as Green List (High Evidence).
Mendeliome v0.4451 C15orf41 Zornitza Stark Classified gene: C15orf41 as Green List (high evidence)
Mendeliome v0.4451 C15orf41 Zornitza Stark Gene: c15orf41 has been classified as Green List (High Evidence).
Mendeliome v0.4450 C15orf41 Zornitza Stark gene: C15orf41 was added
gene: C15orf41 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: C15orf41 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C15orf41 were set to 23716552; 32293259; 31191338; 29885034
Phenotypes for gene: C15orf41 were set to Dyserythropoietic anemia, congenital, type Ib, MIM# 615631
Review for gene: C15orf41 was set to GREEN
Added comment: At least 6 families reported, functional data.
Sources: Expert list
Bone Marrow Failure v0.163 C15orf41 Zornitza Stark Marked gene: C15orf41 as ready
Bone Marrow Failure v0.163 C15orf41 Zornitza Stark Gene: c15orf41 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.163 C15orf41 Zornitza Stark Classified gene: C15orf41 as Green List (high evidence)
Bone Marrow Failure v0.163 C15orf41 Zornitza Stark Gene: c15orf41 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.162 C15orf41 Zornitza Stark gene: C15orf41 was added
gene: C15orf41 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: C15orf41 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C15orf41 were set to 23716552; 32293259; 31191338; 29885034
Phenotypes for gene: C15orf41 were set to Dyserythropoietic anemia, congenital, type Ib, MIM# 615631
Review for gene: C15orf41 was set to GREEN
Added comment: At least 6 families reported, functional data.
Sources: Expert list
Red cell disorders v0.0 SF3B1 Zornitza Stark gene: SF3B1 was added
gene: SF3B1 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: SF3B1 was set to Unknown
Publications for gene: SF3B1 were set to 21995386; 28188970
Phenotypes for gene: SF3B1 were set to 605590 Refractory anaemia with ring sideroblasts
Red cell disorders v0.0 HBE1 Zornitza Stark gene: HBE1 was added
gene: HBE1 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: HBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HBE1 were set to 17712794
Phenotypes for gene: HBE1 were set to Epsilon-gamma-delta-beta thalassaemia
Red cell disorders v0.0 GPX1 Zornitza Stark gene: GPX1 was added
gene: GPX1 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: GPX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPX1 were set to 1131421
Phenotypes for gene: GPX1 were set to 614164 Hemolytic anemia due to glutathione peroxidase deficiency
Red cell disorders v0.0 FTCD Zornitza Stark gene: FTCD was added
gene: FTCD was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FTCD were set to 12815595
Phenotypes for gene: FTCD were set to 229100 Glutamate formiminotransferase deficiency
Red cell disorders v0.0 DKC1 Zornitza Stark gene: DKC1 was added
gene: DKC1 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,Yorkshire and North East GLH
Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DKC1 were set to 305000 Dyskeratosis congenita, X-linked
Red cell disorders v0.0 CYB5A Zornitza Stark gene: CYB5A was added
gene: CYB5A was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: CYB5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYB5A were set to 20080843; 8168836
Phenotypes for gene: CYB5A were set to 250790 Methemoglobinemia and ambiguous genitalia
Red cell disorders v0.0 ATRX Zornitza Stark gene: ATRX was added
gene: ATRX was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATRX were set to 19444090; 11449489; 17579672
Phenotypes for gene: ATRX were set to 301040 Alpha-thalassemia/mental retardation syndrome
Red cell disorders v0.0 TSR2 Zornitza Stark gene: TSR2 was added
gene: TSR2 was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Amber,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: TSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TSR2 were set to 24942156; 20301769
Phenotypes for gene: TSR2 were set to 300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis; ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946
Red cell disorders v0.0 STEAP3 Zornitza Stark gene: STEAP3 was added
gene: STEAP3 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Amber,Wessex and West Midlands GLH
Mode of inheritance for gene: STEAP3 was set to Unknown
Phenotypes for gene: STEAP3 were set to hypochromic anaemia
Red cell disorders v0.0 RPS28 Zornitza Stark gene: RPS28 was added
gene: RPS28 was added to Rare anaemia_GEL. Sources: NHS GMS,Yorkshire and North East GLH,Expert Review Amber,Wessex and West Midlands GLH
Mode of inheritance for gene: RPS28 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS28 were set to 24942156; 20301769
Phenotypes for gene: RPS28 were set to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164; 606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis
Red cell disorders v0.0 RPL18 Zornitza Stark gene: RPL18 was added
gene: RPL18 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Amber,Wessex and West Midlands GLH
Mode of inheritance for gene: RPL18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL18 were set to 28280134
Phenotypes for gene: RPL18 were set to Diamond-Blackfan anaemia
Red cell disorders v0.0 PGK1 Zornitza Stark gene: PGK1 was added
gene: PGK1 was added to Rare anaemia_GEL. Sources: NHS GMS,London South GLH,Expert Review Amber
Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PGK1 were set to 6412025; 16740138
Phenotypes for gene: PGK1 were set to 300653 Phosphoglycerate kinase 1 deficiency
Red cell disorders v0.0 NHP2 Zornitza Stark gene: NHP2 was added
gene: NHP2 was added to Rare anaemia_GEL. Sources: NHS GMS,Yorkshire and North East GLH,Expert Review Amber
Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHP2 were set to 613987 Dyskeratosis congenita, autosomal recessive 2
Red cell disorders v0.0 NDUFB11 Zornitza Stark gene: NDUFB11 was added
gene: NDUFB11 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Amber,Wessex and West Midlands GLH
Mode of inheritance for gene: NDUFB11 was set to Unknown
Phenotypes for gene: NDUFB11 were set to sideroblastic anaemia
Red cell disorders v0.0 LARS2 Zornitza Stark gene: LARS2 was added
gene: LARS2 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Amber,Wessex and West Midlands GLH
Mode of inheritance for gene: LARS2 was set to Unknown
Phenotypes for gene: LARS2 were set to hydrops/sideroblastic anaemia
Red cell disorders v0.0 YARS2 Zornitza Stark gene: YARS2 was added
gene: YARS2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YARS2 were set to 23918765; 20598274; 22504945
Phenotypes for gene: YARS2 were set to 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2; Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
Red cell disorders v0.0 XK Zornitza Stark gene: XK was added
gene: XK was added to Rare anaemia_GEL. Sources: NHS GMS,London South GLH,Expert Review Green
Mode of inheritance for gene: XK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: XK were set to 11761473; 17683354
Phenotypes for gene: XK were set to 300842 McLeod syndrome
Red cell disorders v0.0 UMPS Zornitza Stark gene: UMPS was added
gene: UMPS was added to Rare anaemia_GEL. Sources: NHS GMS,London South GLH,Expert Review Green
Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UMPS were set to 9042911
Phenotypes for gene: UMPS were set to 258900 Orotic aciduria with megaloblastic anaemia
Red cell disorders v0.0 TRNT1 Zornitza Stark gene: TRNT1 was added
gene: TRNT1 was added to Rare anaemia_GEL. Sources: NHS GMS,Wessex and West Midlands GLH,Yorkshire and North East GLH,Expert Review Green
Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRNT1 were set to sideroblastic anaemia; 616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Red cell disorders v0.0 TPI1 Zornitza Stark gene: TPI1 was added
gene: TPI1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: TPI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPI1 were set to 9338582; 11698297
Phenotypes for gene: TPI1 were set to Hemolytic anemia due to triosephosphate isomerase deficiency,615512; 615512 Hemolytic anemia due to triosephosphate isomerase deficiency; Enzyme Disorder
Red cell disorders v0.0 TMPRSS6 Zornitza Stark gene: TMPRSS6 was added
gene: TMPRSS6 was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMPRSS6 were set to 18408718
Phenotypes for gene: TMPRSS6 were set to 206200 Iron refractoryirondeficiencyanemia; Iron-Refractory Iron Deficiency Anemia; Iron refractoryirondeficiencyanemia,206200
Red cell disorders v0.0 TF Zornitza Stark gene: TF was added
gene: TF was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: TF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TF were set to 11110675; 1862777; 8187613; 3472216; 10660486
Phenotypes for gene: TF were set to 209300 Congenital hypotransferrinemia; Congenital hypotransferrinemia; Atransferrinemia, 209300
Red cell disorders v0.0 TCN2 Zornitza Stark gene: TCN2 was added
gene: TCN2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCN2 were set to 7849710; 10518276
Phenotypes for gene: TCN2 were set to failure to thrive; neutropenia; hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow; Transcobalamin II deficiency; can have a presentation similar to severe combined immunodeficiency; Agammaglobulinemia; neutropenic colitis; thrombocytopenia; 275350 Transcobalamin II deficiency; megaloblastic bone marrow; pancytopenia
Red cell disorders v0.0 SPTB Zornitza Stark gene: SPTB was added
gene: SPTB was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: SPTB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPTB were set to 8226774; 3276733
Phenotypes for gene: SPTB were set to Elliptocytosis; Anemia, neonatal hemolytic, fatal and near-fatal; 616649 Anemia, neonatal hemolytic, fatal and near-fatal; 617948 Elliptocytosis-3; RBC membrane abnormality; Spherocytosis,616649; 616649 Spherocytosis, type 2
Red cell disorders v0.0 SPTA1 Zornitza Stark gene: SPTA1 was added
gene: SPTA1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: SPTA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPTA1 were set to 1679439; 3940543; 4077050
Phenotypes for gene: SPTA1 were set to 130600 Elliptocytosis-2; 266140 Pyropoikilocytosis; 266140 Pyropoikilocytosis, 270970 Spherocytosis, type 3; Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140; Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970; RBC membrane abnormality; 270970 Spherocytosis, type 3; Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600
Red cell disorders v0.0 SLC4A1 Zornitza Stark gene: SLC4A1 was added
gene: SLC4A1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: SLC4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC4A1 were set to 1722314
Phenotypes for gene: SLC4A1 were set to 166900 Ovalocytosis, SA type; Ovalocytosis, SA type, 166900; 612653 Spherocytosis, type 4; Haemolytic Anemia; Cryohydrocytosis,185020; RBC membrane abnormality; 166900 Ovalocytosis, SA type, 185020 Cryohydrocytosis; Spherocytosis, type 4, 612653
Red cell disorders v0.0 SLC2A1 Zornitza Stark gene: SLC2A1 was added
gene: SLC2A1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC2A1 were set to 22492876; 21791420
Phenotypes for gene: SLC2A1 were set to 608885 Stomatin-deficient cryohydrocytosis with neurologic defects; Pyridoxine-refractory sideroblastic anemia; 612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia; Stomatocytosis
Red cell disorders v0.0 SLC25A38 Zornitza Stark gene: SLC25A38 was added
gene: SLC25A38 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A38 were set to 19412178
Phenotypes for gene: SLC25A38 were set to 205950 Anemia, sideroblastic, 2, pyridoxine-refractory; Anemia, sideroblastic, 2, pyridoxine-refractory, 205950; 205950 Pyridoxine refractory sideroblastic anaemia 2
Red cell disorders v0.0 SLC19A2 Zornitza Stark gene: SLC19A2 was added
gene: SLC19A2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC19A2 were set to 10391221; 10978358
Phenotypes for gene: SLC19A2 were set to 249270 Thiamine-Responsive Megaloblastic Anemia syndrome; Thiamine-Responsive Megaloblastic Anemia syndrome, 249270; 249270 Thiamine-responsive megaloblastic anemia syndrome
Red cell disorders v0.0 SLC11A2 Zornitza Stark gene: SLC11A2 was added
gene: SLC11A2 was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: SLC11A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC11A2 were set to 15459009; 16439678; 16160008
Phenotypes for gene: SLC11A2 were set to Anemia, hypochromic microcytic, with iron overload 1, 206100; 206100 Anemia, hypochromic microcytic, with iron overload 1
Red cell disorders v0.0 SEC23B Zornitza Stark gene: SEC23B was added
gene: SEC23B was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC23B were set to 19561605
Phenotypes for gene: SEC23B were set to 224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; Congenital Dyserythropoietic Anemia; 224100 Congenital dyserythropoietic anaemia type 2; Anemia, dyserythropoieticcongenital, type II, 224100; Congenital dyserythropoietic anemia type II; ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
Red cell disorders v0.0 SBDS Zornitza Stark gene: SBDS was added
gene: SBDS was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
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
Red cell disorders v0.0 RPS7 Zornitza Stark gene: RPS7 was added
gene: RPS7 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS7 were set to 19061985; 27882484; 23718193
Phenotypes for gene: RPS7 were set to Diamond-Blackfan anemia 8, 612563; 612563 Diamond-Blackfan anemia 8; Diamond-Blackfan Anemia; 612563 Diamond_Blackfan Anemia 8; Inherited Bone Marrow Failure Syndromes; Diamond_Blackfan Anemia 8; Diamond Blackfan anemia; DIAMOND-BLACKFAN ANEMIA 8
Red cell disorders v0.0 RPS29 Zornitza Stark gene: RPS29 was added
gene: RPS29 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPS29 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS29 were set to 24829207
Phenotypes for gene: RPS29 were set to Diamond-Blackfan anemia 13, 615909; 615909 Diamond-Blackfan anemia 13
Red cell disorders v0.0 RPS27 Zornitza Stark gene: RPS27 was added
gene: RPS27 was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPS27 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS27 were set to 23718193; 25424902
Phenotypes for gene: RPS27 were set to ?Diamond-Blackfan anemia 17, 617409; 617409 ?Diamond-Blackfan anemia 17,; Diamond-Blackfan anemia
Red cell disorders v0.0 RPS26 Zornitza Stark gene: RPS26 was added
gene: RPS26 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS26 were set to 23812780; 20116044; 24942156
Phenotypes for gene: RPS26 were set to Diamond-Blackfan anemia 10; Diamond_Blackfan Anemia 10; Diamond-Blackfan Anemia; 613309 Diamond_Blackfan Anemia 10; Inherited Bone Marrow Failure Syndromes; 613309 Diamond-Blackfan anemia 10; Diamond-Blackfan anemia 10, 613309; Diamond Blackfan anemia
Red cell disorders v0.0 RPS24 Zornitza Stark gene: RPS24 was added
gene: RPS24 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPS24 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS24 were set to 17186470; 23812780
Phenotypes for gene: RPS24 were set to Diamond-blackfan anemia 3, 610629; DIAMOND-BLACKFAN ANEMIA 3; Diamond-Blackfan Anemia; Diamond_Blackfan Anemia 3; Diamond-Blackfan Anemia 3; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; 610629 Diamond-blackfan anemia 3; 610629 Diamond_Blackfan Anemia 3
Red cell disorders v0.0 RPS19 Zornitza Stark gene: RPS19 was added
gene: RPS19 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS19 were set to 9988267
Phenotypes for gene: RPS19 were set to 105650 Diamond-Blackfan anemia 1; Diamond-Blackfan Anemia; Diamond-Blackfan anemia 1, 105650; Diamond_Blackfan Anemia; 105650 Diamond_Blackfan Anemia 1; Inherited Bone Marrow Failure Syndromes; DIAMOND-BLACKFAN ANEMIA 1; Diamond Blackfan anemia
Red cell disorders v0.0 RPS17 Zornitza Stark gene: RPS17 was added
gene: RPS17 was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS17 were set to 19953637; 19061985; 17647292; 22045982
Phenotypes for gene: RPS17 were set to Diamond-Blackfan anemia 4, 612527; 612527 Diamond-Blackfan anemia 4
Red cell disorders v0.0 RPS10 Zornitza Stark gene: RPS10 was added
gene: RPS10 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPS10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS10 were set to 20116044
Phenotypes for gene: RPS10 were set to 613308 Diamond-Blackfan anemia 9; Diamond-Blackfan Anemia; Diamond-Blackfan Anemia 9; Diamond_Blackfan Anemia 9; DIAMOND-BLACKFAN ANEMIA 9; 613308 Diamond_Blackfan Anemia 9; Inherited Bone Marrow Failure Syndromes; Diamond-Blackfan anemia 9, 613308; Diamond Blackfan anemia
Red cell disorders v0.0 RPL9 Zornitza Stark gene: RPL9 was added
gene: RPL9 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPL9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL9 were set to 29114930
Phenotypes for gene: RPL9 were set to ?Diamond-Blackfan anaemia; N/A Diamond-Blackfan anemia; Diamond-Blackfan anemia
Red cell disorders v0.0 RPL5 Zornitza Stark gene: RPL5 was added
gene: RPL5 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL5 were set to 19061985
Phenotypes for gene: RPL5 were set to Diamond-Blackfan Anemia; Diamond_Blackfan Anemia 6; 612561 Diamond_Blackfan Anemia 6; Diamond-Blackfan Anemia 6; 612561 Diamond-Blackfan anemia 6; DIAMOND-BLACKFAN ANEMIA 6; Inherited Bone Marrow Failure Syndromes; Diamond-Blackfan anemia 6, 612561; Diamond Blackfan anemia
Red cell disorders v0.0 RPL35A Zornitza Stark gene: RPL35A was added
gene: RPL35A was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL35A were set to 18535205
Phenotypes for gene: RPL35A were set to Diamond-Blackfan anemia 5, 612528; Diamond_Blackfan Anemia 5; Diamond-Blackfan Anemia; 612528 Diamond_Blackfan Anemia 5; 612528 Diamond-Blackfan anemia 5; Diamond-Blackfan Anemia 5; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; DIAMOND-BLACKFAN ANEMIA 5
Red cell disorders v0.0 RPL31 Zornitza Stark gene: RPL31 was added
gene: RPL31 was added to Rare anaemia_GEL. Sources: NHS GMS,Wessex and West Midlands GLH,Yorkshire and North East GLH,Expert Review Green
Mode of inheritance for gene: RPL31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL31 were set to 25424902; 25042156
Phenotypes for gene: RPL31 were set to N/A ? Diamond-Blackfan Anaemia
Red cell disorders v0.0 RPL27 Zornitza Stark gene: RPL27 was added
gene: RPL27 was added to Rare anaemia_GEL. Sources: NHS GMS,Wessex and West Midlands GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: RPL27 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL27 were set to 25424902
Phenotypes for gene: RPL27 were set to Diamond-Blackfan anemia 16, 617408; Diamond-Blackfan anemia
Red cell disorders v0.0 RPL26 Zornitza Stark gene: RPL26 was added
gene: RPL26 was added to Rare anaemia_GEL. Sources: NHS GMS,Wessex and West Midlands GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL26 were set to 22431104
Phenotypes for gene: RPL26 were set to ?Diamond-Blackfan anemia 11, 614900; 614900 ?Diamond-Blackfan anemia 11
Red cell disorders v0.0 RPL15 Zornitza Stark gene: RPL15 was added
gene: RPL15 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPL15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL15 were set to 23812780
Phenotypes for gene: RPL15 were set to 615550 ?Diamond-Blackfan anaemia 12; 615550 ?Diamond-Blackfan anemia 1; ?Diamond-Blackfan anemia 12, 615550
Red cell disorders v0.0 RPL11 Zornitza Stark gene: RPL11 was added
gene: RPL11 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL11 were set to 19061985; 23812780; 23718193
Phenotypes for gene: RPL11 were set to Diamond-Blackfan anemia 7, 612562; Diamond-Blackfan Anemia; Diamond_Blackfan Anemia 7; Diamond-Blackfan Anemia 7; Inherited Bone Marrow Failure Syndromes; DIAMOND-BLACKFAN ANEMIA 7; Diamond Blackfan anemia; 612562 Diamond_Blackfan Anemia 7; 612562 Diamond-Blackfan anemia 7
Red cell disorders v0.0 RHAG Zornitza Stark gene: RHAG was added
gene: RHAG was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RHAG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RHAG were set to 18931342
Phenotypes for gene: RHAG were set to 185000 Overhydrated hereditary stomatocytosis; Stomatocytosis; 268150 Anemia, hemolytic, Rh-null, regulator type; Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal), 268150; Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000
Red cell disorders v0.0 PUS1 Zornitza Stark gene: PUS1 was added
gene: PUS1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS1 were set to 15108122; 15772074
Phenotypes for gene: PUS1 were set to 600462 Myopathy, Lactic Acidosis, and Sideroblastic Anemia; 600462 Myopathy, lactic acidosis, and sideroblastic anemia 1; Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462
Red cell disorders v0.0 PKLR Zornitza Stark gene: PKLR was added
gene: PKLR was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKLR were set to 8664896; 14014643; 7706479
Phenotypes for gene: PKLR were set to Enzyme Disorder; 266200 Pyruvate kinase deficiency; 266200 PYRUVATE KINASE DEFICIENCY; Pyruvate kinase deficiency, 266200; PYRUVATE KINASE DEFICIENCY; Pyruvate kinase deficiency
Red cell disorders v0.0 PIEZO1 Zornitza Stark gene: PIEZO1 was added
gene: PIEZO1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: PIEZO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PIEZO1 were set to 22529292; 23695678
Phenotypes for gene: PIEZO1 were set to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Dehydrated hereditary stomatocytosis; 194380 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; 194380 Stomatocytosis; Hereditary xerocytosis; Stomatocytosis; 616843 Lymphatic malformation 6
Red cell disorders v0.0 PFKM Zornitza Stark gene: PFKM was added
gene: PFKM was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PFKM were set to 7513946; 2140573
Phenotypes for gene: PFKM were set to 232800 Glycogen storage disease VII; Glycogen storage disease VII, 232800
Red cell disorders v0.0 NT5C3A Zornitza Stark gene: NT5C3A was added
gene: NT5C3A was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NT5C3A were set to 12714505; 11369620
Phenotypes for gene: NT5C3A were set to 266120 Anemia, hemolytic, due to UMPH1 deficiency; Anemia, hemolytic, due to UMPH1 deficiency, 266120
Red cell disorders v0.0 MTRR Zornitza Stark gene: MTRR was added
gene: MTRR was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTRR were set to 15714522; 12555939
Phenotypes for gene: MTRR were set to Homocystinuria-megaloblastic anemia, cbl E type, 236270; 236270 Homocystinuria-megaloblastic anemia, cbl E type
Red cell disorders v0.0 MTR Zornitza Stark gene: MTR was added
gene: MTR was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTR were set to 9683607; 12068375
Phenotypes for gene: MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; 250940 Homocystinuria-megaloblastic anemia, cblG complementation type
Red cell disorders v0.0 LPIN2 Zornitza Stark gene: LPIN2 was added
gene: LPIN2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LPIN2 were set to 15994876; 17330256
Phenotypes for gene: LPIN2 were set to Majeed syndrome; Congenital dyserythropoietic anemia; Majeed syndrome, 609628; 609628 Majeed syndrome; 609628 Microcytic anemia; CDA; Microcytic anemia
Red cell disorders v0.0 KLF1 Zornitza Stark gene: KLF1 was added
gene: KLF1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KLF1 were set to 21055716; 29200155
Phenotypes for gene: KLF1 were set to 613673 Congenital Dyserythropoietic Anemia; Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type IV, 613673; 613673 Congenital dyserythropoietic anaemia type 4; Dyserythropoietic anemia, congenital, type IV
Red cell disorders v0.0 KIF23 Zornitza Stark gene: KIF23 was added
gene: KIF23 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: KIF23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIF23 were set to 23570799
Phenotypes for gene: KIF23 were set to Anaemia, dyserythropoietic congenital, type III; Enzyme Disorder; CDA III; Congenital dyserythropoietic anemia type III; 605064 Congenital dyserythropoietic anaemia type 3; Congenital dyserythropoietic anemia (CDA)
Red cell disorders v0.0 KCNN4 Zornitza Stark gene: KCNN4 was added
gene: KCNN4 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: KCNN4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNN4 were set to 26148990; 26178367
Phenotypes for gene: KCNN4 were set to Hereditary Xerocytosis; 616689 Dehydrated hereditary stomatocytosis 2
Red cell disorders v0.0 HSPA9 Zornitza Stark gene: HSPA9 was added
gene: HSPA9 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: HSPA9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HSPA9 were set to 26491070
Phenotypes for gene: HSPA9 were set to sideroblastic anaemia; 182170 Sideroblastic anaemia 4; Sideroblastic anaemia type 4, 182170; 182170 sideroblastic anaemia type 4
Red cell disorders v0.0 HK1 Zornitza Stark gene: HK1 was added
gene: HK1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: HK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HK1 were set to 12393545; 7655856
Phenotypes for gene: HK1 were set to 235700 Enzyme Disorder; Enzyme Disorder; Hemolytic anemia due to hexokinase deficiency, 235700; 235700 Hemolytic anemia due to hexokinase deficiency; Hemolytic anemia due to hexokinase deficiency
Red cell disorders v0.0 HBG2 Zornitza Stark gene: HBG2 was added
gene: HBG2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: HBG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HBG2 were set to 26500940
Phenotypes for gene: HBG2 were set to Cyanosis, transient neonatal, 613977; 141749 Hereditary persistance of fetal haemoglobin; Fetal hemoglobin quantitative trait locus 1,141749; 141749 Globin Disorder; Fetal hemoglobin quantitative trait locus 1; Globin Disorder
Red cell disorders v0.0 HBG1 Zornitza Stark gene: HBG1 was added
gene: HBG1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: HBG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HBG1 were set to 26500940
Phenotypes for gene: HBG1 were set to 141749 Hereditary persistance of fetal haemoglobin; 141749 Globin Disorder; Fetal hemoglobin quantitative trait locus 1; Globin Disorder; Fetal hemoglobin quantitative trait locus 1, 141749
Red cell disorders v0.0 HBD Zornitza Stark gene: HBD was added
gene: HBD was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: HBD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HBD were set to 27630894; 25490067
Phenotypes for gene: HBD were set to Thalassemiadue to HbLepore; Thalassemia due to Hb Lepore; 141749 Delta-beta thalassaemia, thalassaemia due to Hb Lepore; Thalassemia,delta; Thalassemia, delta
Red cell disorders v0.0 HBB Zornitza Stark gene: HBB was added
gene: HBB was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: HBB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HBB were set to 20067565; 23637309
Phenotypes for gene: HBB were set to Thalassemias, beta-,(BIALLELIC, autosomal or pseudoautosomal), 613985; Sickle cell anemia (BIALLELIC, autosomal or pseudoautosomal),603903; 141749 Delta-beta thalassaemia; 613985 Thalassemia, beta; Hereditary persistence of fetal hemoglobin,(MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown),141749; Erythremias, beta-; 603902 Dominand inclusion body beta thalassaemia; 613985 Beta thalassaemia; Heinz body anemias, beta- (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 140700; 603902 Thalassemia-beta, dominant inclusion-body; Globin Disorder; 603903 Sickle cell disease; Thalassemia-beta, dominant inclusion-body, 603902; Delta-beta thalassemia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 141749; Methemoglobinemias, beta-
Red cell disorders v0.0 HBA2 Zornitza Stark gene: HBA2 was added
gene: HBA2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: HBA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HBA2 were set to 2050764
Phenotypes for gene: HBA2 were set to Heinz body anemia,140700; Hemoglobin H disease, nondeletional, 613978; 60413 Thalassemia, alpha; Globin Disorder; Hypochromic microcytic anemia; 604131 Alpha thalassaemia; Erythrocytosis; Thalassemia, alpha-, 604131
Red cell disorders v0.0 HBA1 Zornitza Stark gene: HBA1 was added
gene: HBA1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: HBA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HBA1 were set to 2050764
Phenotypes for gene: HBA1 were set to Heinz body anemias, alpha-, 140700; Thalassemias, alpha-, 604131; Hemoglobin H disease, nondeletional, 613978; Erythremias, alpha-; Methemoglobinemias, alpha-; Globin Disorder; 604131 Alpha thalassaemia; 604131 Thalassemias, alpha
Red cell disorders v0.0 GSS Zornitza Stark gene: GSS was added
gene: GSS was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSS were set to 8896573
Phenotypes for gene: GSS were set to Glutathione synthetase deficiency, 266130; Enzyme Disorder; Hemolytic anemia due to glutathione synthetase deficiency; 231900 Enzyme Disorder; 266130 Glutathione synthetase deficiency; Hemolytic anemia due to glutathione synthetase deficiency, 231900
Red cell disorders v0.0 GSR Zornitza Stark gene: GSR was added
gene: GSR was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: GSR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSR were set to 8533822
Phenotypes for gene: GSR were set to Enzyme Disorder; Hemolytic anemia due to glutathione reductase deficiency; NA Enzyme Disorder
Red cell disorders v0.0 GPI Zornitza Stark gene: GPI was added
gene: GPI was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: GPI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPI were set to 411100
Phenotypes for gene: GPI were set to Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470; 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency
Red cell disorders v0.0 GLRX5 Zornitza Stark gene: GLRX5 was added
gene: GLRX5 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: GLRX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLRX5 were set to 25342667; 20364084; 17485548
Phenotypes for gene: GLRX5 were set to 205950 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950; 616860 Pyridoxine refractory sideroblastic anaemia 3
Red cell disorders v0.0 GIF Zornitza Stark gene: GIF was added
gene: GIF was added to Rare anaemia_GEL. Sources: NHS GMS,London South GLH,Expert Review Green
Mode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GIF were set to 15738392; 14576042
Phenotypes for gene: GIF were set to 261000 Intrinsic factor deficiency
Red cell disorders v0.0 GCLC Zornitza Stark gene: GCLC was added
gene: GCLC was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: GCLC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCLC were set to 10515893
Phenotypes for gene: GCLC were set to Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450; Enzyme Disorder; 230450 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency; 230450 Glutamate-cysteine ligase deficiency; Glutamate-cysteine ligase deficiency
Red cell disorders v0.0 GATA1 Zornitza Stark gene: GATA1 was added
gene: GATA1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GATA1 were set to 22706301; 24766296; 30228860
Phenotypes for gene: GATA1 were set to 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; 300367 Diamond Blackfan Anaemia; Myelodysplastic syndrome (MDS), Paediatric; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367; Diamond Blackfan Anaemia; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities; Diamond-Blackfan anaemia; 300835 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835
Red cell disorders v0.0 G6PD Zornitza Stark gene: G6PD was added
gene: G6PD was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: G6PD 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: G6PD were set to 18177777
Phenotypes for gene: G6PD were set to Hemolytic anemia due to G6PD deficiency, 300908; 300908 Hemolytic anemia due to G6PD deficiency; Enzyme Disorder; 300908 Hemolytic anemia, G6PD deficient (favism)
Red cell disorders v0.0 EPB42 Zornitza Stark gene: EPB42 was added
gene: EPB42 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: EPB42 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPB42 were set to 1558976; 7772513; 12176912
Phenotypes for gene: EPB42 were set to Elliptocytosis; Hereditary spherocytosis type 5; Spherocytosis, type 5, 612690; Spherocytosis, Recessive; EPB42-related hereditary spherocytosis; RBC membrane abnormality; 612690 Hereditary spherocytosis type 5; Minkowski-Chauffard disease; 612690 Spherocytosis, type 5
Red cell disorders v0.0 EPB41 Zornitza Stark gene: EPB41 was added
gene: EPB41 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: EPB41 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EPB41 were set to 8423235; 1430200; 3134067
Phenotypes for gene: EPB41 were set to Elliptocytosis; 611804 Elliptocytosis-1; Elliptocytosis-1,611804; Hereditary elliptocytosis; 611804 Hereditary elliptocytosis; RBC membrane abnormality
Red cell disorders v0.0 DHFR Zornitza Stark gene: DHFR was added
gene: DHFR was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHFR were set to 21310276; 21310277
Phenotypes for gene: DHFR were set to Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839; 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency
Red cell disorders v0.0 CYB5R3 Zornitza Stark gene: CYB5R3 was added
gene: CYB5R3 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: CYB5R3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYB5R3 were set to 18318771; 15921385
Phenotypes for gene: CYB5R3 were set to Methaemoglobinaemia type I and II, 250800; 250800 Methemoglobinemia; 250800 Methaemoglobinaemia type I and II; Methaemoglobinaemia
Red cell disorders v0.0 CUBN Zornitza Stark gene: CUBN was added
gene: CUBN was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CUBN were set to 17285242; 15024727
Phenotypes for gene: CUBN were set to 261100 Megaloblastic anemia-1, Finnish type; Megaloblastic Anemia; Megaloblastic anemia-1, Finnish type, 261100
Red cell disorders v0.0 COX4I2 Zornitza Stark gene: COX4I2 was added
gene: COX4I2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: COX4I2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX4I2 were set to 19268275
Phenotypes for gene: COX4I2 were set to Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis; Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis; 612714 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis; 612714 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis; Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
Red cell disorders v0.0 CDAN1 Zornitza Stark gene: CDAN1 was added
gene: CDAN1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDAN1 were set to 16098079; 12434312
Phenotypes for gene: CDAN1 were set to 224120 Congenital dyserythropoietic anaemia type 1a; Dyserythropoietic anemia, congenital, type Ia, 224120; 224120 Dyserythropoietic anemia, congenital, type Ia
Red cell disorders v0.0 CD59 Zornitza Stark gene: CD59 was added
gene: CD59 was added to Rare anaemia_GEL. Sources: NHS GMS,North West GLH,Yorkshire and North East GLH,Expert Review Green
Mode of inheritance for gene: CD59 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD59 were set to 23149847; 1382994; 24382084
Phenotypes for gene: CD59 were set to Dyskeratosis congenita, X-linked, 305000; 305000 Dyskeratosis congenita, X-linked
Red cell disorders v0.0 C15orf41 Zornitza Stark gene: C15orf41 was added
gene: C15orf41 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: C15orf41 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C15orf41 were set to 29885034; 29031773; 23716552
Phenotypes for gene: C15orf41 were set to Dyserythropoietic anemia, congenital, type Ib, 615631; 615631 Congenital dyserythropoietic anaemia type 1b; Congenital Dyserythropoietic Anemia; 615631 Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type Ib
Red cell disorders v0.0 ANK1 Zornitza Stark gene: ANK1 was added
gene: ANK1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: ANK1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ANK1 were set to 9590147; 7883994; 11167760
Phenotypes for gene: ANK1 were set to 182900 Spherocytosis, type 1; 182900 RBC membrane abnormality; Spherocytosis, type 1; RBC membrane abnormality; Spherocytosis, type 1,182900
Red cell disorders v0.0 AMN Zornitza Stark gene: AMN was added
gene: AMN was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMN were set to 17285242; 12590260
Phenotypes for gene: AMN were set to Megaloblastic anemia-1, Norwegian type, 261100; 261100 Megaloblastic anemia-1, Norwegian type
Red cell disorders v0.0 ALDOA Zornitza Stark gene: ALDOA was added
gene: ALDOA was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDOA were set to 7331996; 8598869
Phenotypes for gene: ALDOA were set to Glycogen storage disease due to aldolase A deficiency; Enzyme Disorder; Glycogen storage disease; 611881 Glycogen storage disease XII; Aldolase A deficiency; 611881 Aldolase A deficiency; Glycogen storage disease XII, 611881
Red cell disorders v0.0 ALAS2 Zornitza Stark gene: ALAS2 was added
gene: ALAS2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ALAS2 were set to 10029606
Phenotypes for gene: ALAS2 were set to 300751 Sideroblastic anaemia 1; Anemia, sideroblastic, 1 300751; Anemia, sideroblastic, 1, 300751; 300751 Anemia, sideroblastic, 1
Red cell disorders v0.0 AK1 Zornitza Stark gene: AK1 was added
gene: AK1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: AK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AK1 were set to 28211224
Phenotypes for gene: AK1 were set to Hemolytic anemia due to adenylate kinase deficiency, 612631; 612631 Hemolytic anemia due to adenylate kinase deficiency
Red cell disorders v0.0 ADA2 Zornitza Stark gene: ADA2 was added
gene: ADA2 was added to Rare anaemia_GEL. Sources: NHS GMS,Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADA2 were set to Diamond Blackfan anaemia
Red cell disorders v0.0 ABCG8 Zornitza Stark gene: ABCG8 was added
gene: ABCG8 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: ABCG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCG8 were set to sitosterolaemia; 210250 sitosterolaemia
Red cell disorders v0.0 ABCG5 Zornitza Stark gene: ABCG5 was added
gene: ABCG5 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCG5 were set to sitosterolaemia; 210250 sitosterolaemia
Red cell disorders v0.0 ABCB7 Zornitza Stark gene: ABCB7 was added
gene: ABCB7 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ABCB7 were set to 11050011; 11843825; 4045952
Phenotypes for gene: ABCB7 were set to 301310 Sideroblastic Anemia and Ataxia; Anemia, sideroblastic, with ataxia, 301310; Anemia, sideroblastic, with ataxia; Sideroblastic Anemia and Ataxia; 301310 Sideroblastic anaemia
Red cell disorders v0.0 Zornitza Stark Added panel Rare anaemia_GEL
Chromosome Breakage Disorders v0.28 XRCC2 Zornitza Stark Marked gene: XRCC2 as ready
Chromosome Breakage Disorders v0.28 XRCC2 Zornitza Stark Gene: xrcc2 has been classified as Amber List (Moderate Evidence).
Chromosome Breakage Disorders v0.28 XRCC2 Zornitza Stark Classified gene: XRCC2 as Amber List (moderate evidence)
Chromosome Breakage Disorders v0.28 XRCC2 Zornitza Stark Gene: xrcc2 has been classified as Amber List (Moderate Evidence).
Chromosome Breakage Disorders v0.27 XRCC2 Zornitza Stark gene: XRCC2 was added
gene: XRCC2 was added to Chromosome Breakage Disorders. Sources: Expert list
Mode of inheritance for gene: XRCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC2 were set to 27208205; 22232082; 11118202
Phenotypes for gene: XRCC2 were set to Fanconi anemia, complementation group U, MIM# 617247
Review for gene: XRCC2 was set to AMBER
Added comment: Single family reported, functional data.
Sources: Expert list
Mendeliome v0.4449 XRCC2 Zornitza Stark Marked gene: XRCC2 as ready
Mendeliome v0.4449 XRCC2 Zornitza Stark Gene: xrcc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4449 XRCC2 Zornitza Stark Phenotypes for gene: XRCC2 were changed from to Fanconi anemia, complementation group U, MIM# 617247
Mendeliome v0.4448 XRCC2 Zornitza Stark Publications for gene: XRCC2 were set to
Mendeliome v0.4447 XRCC2 Zornitza Stark Mode of inheritance for gene: XRCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4446 XRCC2 Zornitza Stark Classified gene: XRCC2 as Amber List (moderate evidence)
Mendeliome v0.4446 XRCC2 Zornitza Stark Gene: xrcc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4445 XRCC2 Zornitza Stark reviewed gene: XRCC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27208205, 22232082, 11118202; Phenotypes: Fanconi anemia, complementation group U, MIM# 617247; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.161 XRCC2 Zornitza Stark Marked gene: XRCC2 as ready
Bone Marrow Failure v0.161 XRCC2 Zornitza Stark Gene: xrcc2 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.161 XRCC2 Zornitza Stark Phenotypes for gene: XRCC2 were changed from to Fanconi anemia, complementation group U, MIM# 617247
Bone Marrow Failure v0.160 XRCC2 Zornitza Stark Publications for gene: XRCC2 were set to
Bone Marrow Failure v0.159 XRCC2 Zornitza Stark Mode of inheritance for gene: XRCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.158 XRCC2 Zornitza Stark Classified gene: XRCC2 as Amber List (moderate evidence)
Bone Marrow Failure v0.158 XRCC2 Zornitza Stark Gene: xrcc2 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.157 XRCC2 Zornitza Stark reviewed gene: XRCC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27208205, 22232082, 11118202; Phenotypes: Fanconi anemia, complementation group U, MIM# 617247; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.197 WIPF1 Zornitza Stark Marked gene: WIPF1 as ready
Bleeding and Platelet Disorders v0.197 WIPF1 Zornitza Stark Gene: wipf1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.197 WIPF1 Zornitza Stark Classified gene: WIPF1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.197 WIPF1 Zornitza Stark Gene: wipf1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.196 WIPF1 Zornitza Stark gene: WIPF1 was added
gene: WIPF1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: WIPF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WIPF1 were set to 27742395; 11869681; 22231303; 14757742; 9405671
Phenotypes for gene: WIPF1 were set to Wiskott-Aldrich syndrome 2, MIM# 614493
Review for gene: WIPF1 was set to GREEN
Added comment: Two unrelated families reported, one with 4 affected individuals. Extensive functional data.
Sources: Expert list
Bone Marrow Failure v0.157 WIPF1 Zornitza Stark Marked gene: WIPF1 as ready
Bone Marrow Failure v0.157 WIPF1 Zornitza Stark Gene: wipf1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.157 WIPF1 Zornitza Stark Classified gene: WIPF1 as Green List (high evidence)
Bone Marrow Failure v0.157 WIPF1 Zornitza Stark Gene: wipf1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.156 WIPF1 Zornitza Stark gene: WIPF1 was added
gene: WIPF1 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: WIPF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WIPF1 were set to 27742395; 11869681; 22231303; 14757742; 9405671
Phenotypes for gene: WIPF1 were set to Wiskott-Aldrich syndrome 2, MIM# 614493
Review for gene: WIPF1 was set to GREEN
Added comment: Two unrelated families reported, one with 4 affected individuals. Extensive functional data.
Sources: Expert list
Pierre Robin Sequence v0.16 TSR2 Zornitza Stark Marked gene: TSR2 as ready
Pierre Robin Sequence v0.16 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Pierre Robin Sequence v0.16 TSR2 Zornitza Stark Phenotypes for gene: TSR2 were changed from to Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946
Pierre Robin Sequence v0.15 TSR2 Zornitza Stark Publications for gene: TSR2 were set to
Pierre Robin Sequence v0.14 TSR2 Zornitza Stark Mode of inheritance for gene: TSR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Pierre Robin Sequence v0.13 TSR2 Zornitza Stark Classified gene: TSR2 as Red List (low evidence)
Pierre Robin Sequence v0.13 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Pierre Robin Sequence v0.12 TSR2 Zornitza Stark reviewed gene: TSR2: Rating: RED; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.4445 TSR2 Zornitza Stark Marked gene: TSR2 as ready
Mendeliome v0.4445 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Mendeliome v0.4445 TSR2 Zornitza Stark Phenotypes for gene: TSR2 were changed from to Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946
Mendeliome v0.4444 TSR2 Zornitza Stark Publications for gene: TSR2 were set to
Mendeliome v0.4443 TSR2 Zornitza Stark Mode of inheritance for gene: TSR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.4442 TSR2 Zornitza Stark Classified gene: TSR2 as Red List (low evidence)
Mendeliome v0.4442 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Mendeliome v0.4441 TSR2 Zornitza Stark reviewed gene: TSR2: Rating: RED; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mandibulofacial Acrofacial dysostosis v0.14 TSR2 Zornitza Stark Marked gene: TSR2 as ready
Mandibulofacial Acrofacial dysostosis v0.14 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Mandibulofacial Acrofacial dysostosis v0.14 TSR2 Zornitza Stark Phenotypes for gene: TSR2 were changed from to Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946
Mandibulofacial Acrofacial dysostosis v0.13 TSR2 Zornitza Stark Publications for gene: TSR2 were set to
Mandibulofacial Acrofacial dysostosis v0.12 TSR2 Zornitza Stark Mode of inheritance for gene: TSR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mandibulofacial Acrofacial dysostosis v0.11 TSR2 Zornitza Stark Classified gene: TSR2 as Red List (low evidence)
Mandibulofacial Acrofacial dysostosis v0.11 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Mandibulofacial Acrofacial dysostosis v0.10 TSR2 Zornitza Stark reviewed gene: TSR2: Rating: RED; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Diamond Blackfan anaemia v0.32 TSR2 Zornitza Stark Marked gene: TSR2 as ready
Diamond Blackfan anaemia v0.32 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v0.32 TSR2 Zornitza Stark Phenotypes for gene: TSR2 were changed from to Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946
Diamond Blackfan anaemia v0.31 TSR2 Zornitza Stark Publications for gene: TSR2 were set to
Diamond Blackfan anaemia v0.30 TSR2 Zornitza Stark Mode of inheritance for gene: TSR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Diamond Blackfan anaemia v0.29 TSR2 Zornitza Stark Classified gene: TSR2 as Red List (low evidence)
Diamond Blackfan anaemia v0.29 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v0.28 TSR2 Zornitza Stark reviewed gene: TSR2: Rating: RED; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.155 TSR2 Zornitza Stark Marked gene: TSR2 as ready
Bone Marrow Failure v0.155 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.155 TSR2 Zornitza Stark Phenotypes for gene: TSR2 were changed from to Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946
Bone Marrow Failure v0.154 TSR2 Zornitza Stark Publications for gene: TSR2 were set to
Bone Marrow Failure v0.154 TSR2 Zornitza Stark Mode of inheritance for gene: TSR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.153 TSR2 Zornitza Stark Classified gene: TSR2 as Red List (low evidence)
Bone Marrow Failure v0.153 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.152 TSR2 Zornitza Stark reviewed gene: TSR2: Rating: RED; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.4441 SRP72 Zornitza Stark Tag disputed tag was added to gene: SRP72.
Mendeliome v0.4441 SRP72 Zornitza Stark Marked gene: SRP72 as ready
Mendeliome v0.4441 SRP72 Zornitza Stark Gene: srp72 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4441 SRP72 Zornitza Stark Phenotypes for gene: SRP72 were changed from to Bone marrow failure syndrome 1, MIM# 614675
Mendeliome v0.4440 SRP72 Zornitza Stark Publications for gene: SRP72 were set to
Mendeliome v0.4439 SRP72 Zornitza Stark Mode of inheritance for gene: SRP72 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4438 SRP72 Zornitza Stark Classified gene: SRP72 as Amber List (moderate evidence)
Mendeliome v0.4438 SRP72 Zornitza Stark Gene: srp72 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4437 SRP72 Zornitza Stark reviewed gene: SRP72: Rating: AMBER; Mode of pathogenicity: None; Publications: 22541560, 31254415; Phenotypes: Bone marrow failure syndrome 1, MIM# 614675; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.152 SRP72 Zornitza Stark Marked gene: SRP72 as ready
Bone Marrow Failure v0.152 SRP72 Zornitza Stark Gene: srp72 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.152 SRP72 Zornitza Stark Phenotypes for gene: SRP72 were changed from to Bone marrow failure syndrome 1, MIM# 614675
Bone Marrow Failure v0.151 SRP72 Zornitza Stark Publications for gene: SRP72 were set to
Bone Marrow Failure v0.150 SRP72 Zornitza Stark Mode of inheritance for gene: SRP72 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.149 SRP72 Zornitza Stark Classified gene: SRP72 as Amber List (moderate evidence)
Bone Marrow Failure v0.149 SRP72 Zornitza Stark Gene: srp72 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.148 SRP72 Zornitza Stark Tag disputed tag was added to gene: SRP72.
Bone Marrow Failure v0.148 SRP72 Zornitza Stark reviewed gene: SRP72: Rating: AMBER; Mode of pathogenicity: None; Publications: 22541560, 31254415; Phenotypes: Bone marrow failure syndrome 1, MIM# 614675; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.148 SMARCAL1 Zornitza Stark Marked gene: SMARCAL1 as ready
Bone Marrow Failure v0.148 SMARCAL1 Zornitza Stark Gene: smarcal1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.148 SMARCAL1 Zornitza Stark Phenotypes for gene: SMARCAL1 were changed from to Schimke immunoosseous dysplasia, MIM# 242900
Bone Marrow Failure v0.147 SMARCAL1 Zornitza Stark Publications for gene: SMARCAL1 were set to
Bone Marrow Failure v0.146 SMARCAL1 Zornitza Stark Mode of inheritance for gene: SMARCAL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.145 SMARCAL1 Zornitza Stark reviewed gene: SMARCAL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11799392, 17089404; Phenotypes: Schimke immunoosseous dysplasia, MIM# 242900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.145 SLX4 Zornitza Stark Marked gene: SLX4 as ready
Bone Marrow Failure v0.145 SLX4 Zornitza Stark Gene: slx4 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.145 SLX4 Zornitza Stark Phenotypes for gene: SLX4 were changed from to Fanconi anemia, complementation group P, MIM# 613951
Bone Marrow Failure v0.144 SLX4 Zornitza Stark Publications for gene: SLX4 were set to
Bone Marrow Failure v0.143 SLX4 Zornitza Stark Mode of inheritance for gene: SLX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.142 SLX4 Zornitza Stark reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21240275, 21240277; Phenotypes: Fanconi anemia, complementation group P, MIM# 613951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.142 SLC37A4 Zornitza Stark Marked gene: SLC37A4 as ready
Bone Marrow Failure v0.142 SLC37A4 Zornitza Stark Gene: slc37a4 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.142 SLC37A4 Zornitza Stark Phenotypes for gene: SLC37A4 were changed from to Glycogen storage disease Ib, MIM# 232220
Bone Marrow Failure v0.141 SLC37A4 Zornitza Stark Publications for gene: SLC37A4 were set to
Bone Marrow Failure v0.140 SLC37A4 Zornitza Stark Mode of inheritance for gene: SLC37A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.139 SLC37A4 Zornitza Stark reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31788408, 31536830; Phenotypes: Glycogen storage disease Ib, MIM# 232220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4437 SLC25A38 Zornitza Stark Marked gene: SLC25A38 as ready
Mendeliome v0.4437 SLC25A38 Zornitza Stark Gene: slc25a38 has been classified as Green List (High Evidence).
Mendeliome v0.4437 SLC25A38 Zornitza Stark Phenotypes for gene: SLC25A38 were changed from to Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950
Mendeliome v0.4436 SLC25A38 Zornitza Stark Publications for gene: SLC25A38 were set to
Mendeliome v0.4435 SLC25A38 Zornitza Stark Mode of inheritance for gene: SLC25A38 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4434 SLC25A38 Zornitza Stark reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: None; Publications: 19412178; Phenotypes: Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.139 SLC25A38 Zornitza Stark Marked gene: SLC25A38 as ready
Bone Marrow Failure v0.139 SLC25A38 Zornitza Stark Gene: slc25a38 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.139 SLC25A38 Zornitza Stark Phenotypes for gene: SLC25A38 were changed from to Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950
Bone Marrow Failure v0.138 SLC25A38 Zornitza Stark Publications for gene: SLC25A38 were set to
Bone Marrow Failure v0.137 SLC25A38 Zornitza Stark Mode of inheritance for gene: SLC25A38 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.136 SLC25A38 Zornitza Stark reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: None; Publications: 19412178; Phenotypes: Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.389 SLC19A2 Zornitza Stark Marked gene: SLC19A2 as ready
Deafness_IsolatedAndComplex v0.389 SLC19A2 Zornitza Stark Gene: slc19a2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.389 SLC19A2 Zornitza Stark Classified gene: SLC19A2 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.389 SLC19A2 Zornitza Stark Gene: slc19a2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.388 SLC19A2 Zornitza Stark gene: SLC19A2 was added
gene: SLC19A2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC19A2 were set to 10391221; 10978358
Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270
Review for gene: SLC19A2 was set to GREEN
Added comment: Over 5 unrelated families reported, sensorineural deafness is part of the phenotype.
Sources: Expert Review
Mendeliome v0.4434 SLC19A2 Zornitza Stark Marked gene: SLC19A2 as ready
Mendeliome v0.4434 SLC19A2 Zornitza Stark Gene: slc19a2 has been classified as Green List (High Evidence).
Mendeliome v0.4434 SLC19A2 Zornitza Stark Phenotypes for gene: SLC19A2 were changed from to Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270
Mendeliome v0.4433 SLC19A2 Zornitza Stark Publications for gene: SLC19A2 were set to
Mendeliome v0.4432 SLC19A2 Zornitza Stark Mode of inheritance for gene: SLC19A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4431 SLC19A2 Zornitza Stark reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10391221, 10978358; Phenotypes: Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.136 SLC19A2 Zornitza Stark Marked gene: SLC19A2 as ready
Bone Marrow Failure v0.136 SLC19A2 Zornitza Stark Gene: slc19a2 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.136 SLC19A2 Zornitza Stark Phenotypes for gene: SLC19A2 were changed from to Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270
Bone Marrow Failure v0.135 SLC19A2 Zornitza Stark Publications for gene: SLC19A2 were set to
Bone Marrow Failure v0.134 SLC19A2 Zornitza Stark Mode of inheritance for gene: SLC19A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.133 SLC19A2 Zornitza Stark reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10391221, 10978358; Phenotypes: Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.80 ATP7B Zornitza Stark Classified gene: ATP7B as Amber List (moderate evidence)
Paroxysmal Dyskinesia v0.80 ATP7B Zornitza Stark Gene: atp7b has been classified as Amber List (Moderate Evidence).
Paroxysmal Dyskinesia v0.79 ATP7B Zornitza Stark changed review comment from: In a recent cohort of 82 affected individuals, movement disorders were noted in 78/82 (95.1%) patients and included dystonia in 69 (84.1%), chorea in 31 (37.8%), tremor in 24 (29.3%), parkinsonism in 19 (23.2%), athetosis in 13 (15.9%), and myoclonus in 9 (11.0%) patients. Dystonia was more frequently observed in the patients with thalamic (76.8 vs 23.2%), globus pallidus (72.0 vs 28.0%), putamen (69.5 vs 30.5%), caudate (68.3 vs 31.7%) and brainstem (61.0 vs 39.0%) involvement, and tremor with cerebellar involvement (37.5 vs 5.2%).

Paroxysmal dyskinesia does not appear to be a common feature, and the gene is already included in the Dystonia_Complex panel.; to: In a recent cohort of 82 affected individuals, movement disorders were noted in 78/82 (95.1%) patients and included dystonia in 69 (84.1%), chorea in 31 (37.8%), tremor in 24 (29.3%), parkinsonism in 19 (23.2%), athetosis in 13 (15.9%), and myoclonus in 9 (11.0%) patients. Dystonia was more frequently observed in the patients with thalamic (76.8 vs 23.2%), globus pallidus (72.0 vs 28.0%), putamen (69.5 vs 30.5%), caudate (68.3 vs 31.7%) and brainstem (61.0 vs 39.0%) involvement, and tremor with cerebellar involvement (37.5 vs 5.2%).

Paroxysmal dyskinesia does not appear to be a common feature, and the gene is already included in the Dystonia_Complex panel. However, there are rare reports and this is a treatable disorder.
Paroxysmal Dyskinesia v0.79 ATP7B Zornitza Stark edited their review of gene: ATP7B: Changed rating: AMBER
Mendeliome v0.4431 SEC23B Zornitza Stark Marked gene: SEC23B as ready
Mendeliome v0.4431 SEC23B Zornitza Stark Gene: sec23b has been classified as Green List (High Evidence).
Mendeliome v0.4431 SEC23B Zornitza Stark Phenotypes for gene: SEC23B were changed from to Dyserythropoietic anemia, congenital, type II , MIM#224100
Mendeliome v0.4430 SEC23B Zornitza Stark Publications for gene: SEC23B were set to
Mendeliome v0.4429 SEC23B Zornitza Stark Mode of inheritance for gene: SEC23B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4428 SEC23B Zornitza Stark commented on gene: SEC23B: Over 20 families reported.
Mendeliome v0.4428 SEC23B Zornitza Stark reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: None; Publications: 19561605, 19621418; Phenotypes: Dyserythropoietic anemia, congenital, type II , MIM#224100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.133 SEC23B Zornitza Stark Marked gene: SEC23B as ready
Bone Marrow Failure v0.133 SEC23B Zornitza Stark Gene: sec23b has been classified as Green List (High Evidence).
Bone Marrow Failure v0.133 SEC23B Zornitza Stark Phenotypes for gene: SEC23B were changed from to Dyserythropoietic anemia, congenital, type II , MIM#224100
Bone Marrow Failure v0.132 SEC23B Zornitza Stark Publications for gene: SEC23B were set to
Bone Marrow Failure v0.131 SEC23B Zornitza Stark Mode of inheritance for gene: SEC23B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.130 SEC23B Zornitza Stark reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: None; Publications: 19561605, 19621418; Phenotypes: Dyserythropoietic anemia, congenital, type II , MIM#224100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.130 RUNX1 Zornitza Stark Marked gene: RUNX1 as ready
Bone Marrow Failure v0.130 RUNX1 Zornitza Stark Gene: runx1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.130 RUNX1 Zornitza Stark Phenotypes for gene: RUNX1 were changed from to Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399
Bone Marrow Failure v0.129 RUNX1 Zornitza Stark Publications for gene: RUNX1 were set to
Bone Marrow Failure v0.128 RUNX1 Zornitza Stark Mode of inheritance for gene: RUNX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.127 RUNX1 Zornitza Stark reviewed gene: RUNX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10508512, 11830488; Phenotypes: Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4428 RPS27 Zornitza Stark Marked gene: RPS27 as ready
Mendeliome v0.4428 RPS27 Zornitza Stark Gene: rps27 has been classified as Red List (Low Evidence).
Mendeliome v0.4428 RPS27 Zornitza Stark Phenotypes for gene: RPS27 were changed from to Diamond-Blackfan anemia 17, MIM# 617409
Mendeliome v0.4427 RPS27 Zornitza Stark Publications for gene: RPS27 were set to
Mendeliome v0.4426 RPS27 Zornitza Stark Mode of inheritance for gene: RPS27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4425 RPS27 Zornitza Stark Classified gene: RPS27 as Red List (low evidence)
Mendeliome v0.4425 RPS27 Zornitza Stark Gene: rps27 has been classified as Red List (Low Evidence).
Mendeliome v0.4424 RPS27 Zornitza Stark reviewed gene: RPS27: Rating: RED; Mode of pathogenicity: None; Publications: 25424902; Phenotypes: Diamond-Blackfan anemia 17, MIM# 617409; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.28 RPS27 Zornitza Stark Marked gene: RPS27 as ready
Diamond Blackfan anaemia v0.28 RPS27 Zornitza Stark Gene: rps27 has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v0.28 RPS27 Zornitza Stark Phenotypes for gene: RPS27 were changed from to Diamond-Blackfan anemia 17, MIM# 617409
Diamond Blackfan anaemia v0.27 RPS27 Zornitza Stark Publications for gene: RPS27 were set to
Diamond Blackfan anaemia v0.26 RPS27 Zornitza Stark Mode of inheritance for gene: RPS27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.25 RPS27 Zornitza Stark Classified gene: RPS27 as Red List (low evidence)
Diamond Blackfan anaemia v0.25 RPS27 Zornitza Stark Gene: rps27 has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v0.24 RPS27 Zornitza Stark reviewed gene: RPS27: Rating: RED; Mode of pathogenicity: None; Publications: 25424902; Phenotypes: Diamond-Blackfan anemia 17, MIM# 617409; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.127 RPS27 Zornitza Stark Marked gene: RPS27 as ready
Bone Marrow Failure v0.127 RPS27 Zornitza Stark Gene: rps27 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.127 RPS27 Zornitza Stark Phenotypes for gene: RPS27 were changed from to Diamond-Blackfan anemia 17, MIM# 617409
Bone Marrow Failure v0.126 RPS27 Zornitza Stark Publications for gene: RPS27 were set to
Bone Marrow Failure v0.125 RPS27 Zornitza Stark Mode of inheritance for gene: RPS27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.124 RPS27 Zornitza Stark Classified gene: RPS27 as Red List (low evidence)
Bone Marrow Failure v0.124 RPS27 Zornitza Stark Gene: rps27 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.123 RPS27 Zornitza Stark reviewed gene: RPS27: Rating: RED; Mode of pathogenicity: None; Publications: 25424902; Phenotypes: Diamond-Blackfan anemia 17, MIM# 617409; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.73 RPS17 Zornitza Stark Marked gene: RPS17 as ready
Radial Ray Abnormalities v0.73 RPS17 Zornitza Stark Gene: rps17 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.73 RPS17 Zornitza Stark Phenotypes for gene: RPS17 were changed from to Diamond-Blackfan anemia 4, MIM# 612527
Mendeliome v0.4424 RPS17 Zornitza Stark Marked gene: RPS17 as ready
Mendeliome v0.4424 RPS17 Zornitza Stark Gene: rps17 has been classified as Green List (High Evidence).
Mendeliome v0.4424 RPS17 Zornitza Stark Phenotypes for gene: RPS17 were changed from to Diamond-Blackfan anemia 4, MIM# 612527
Radial Ray Abnormalities v0.72 RPS17 Zornitza Stark Publications for gene: RPS17 were set to
Radial Ray Abnormalities v0.71 RPS17 Zornitza Stark Mode of inheritance for gene: RPS17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4423 RPS17 Zornitza Stark Publications for gene: RPS17 were set to
Mendeliome v0.4422 RPS17 Zornitza Stark Mode of inheritance for gene: RPS17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.70 RPS17 Zornitza Stark reviewed gene: RPS17: Rating: GREEN; Mode of pathogenicity: None; Publications: 17647292, 19061985, 23812780, 23718193; Phenotypes: Diamond-Blackfan anemia 4, MIM# 612527; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4421 RPS17 Zornitza Stark reviewed gene: RPS17: Rating: GREEN; Mode of pathogenicity: None; Publications: 17647292, 19061985, 23812780, 23718193; Phenotypes: Diamond-Blackfan anemia 4, MIM# 612527; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.24 RPS17 Zornitza Stark Marked gene: RPS17 as ready
Diamond Blackfan anaemia v0.24 RPS17 Zornitza Stark Gene: rps17 has been classified as Green List (High Evidence).
Diamond Blackfan anaemia v0.24 RPS17 Zornitza Stark Phenotypes for gene: RPS17 were changed from to Diamond-Blackfan anemia 4, MIM# 612527
Diamond Blackfan anaemia v0.23 RPS17 Zornitza Stark Publications for gene: RPS17 were set to
Diamond Blackfan anaemia v0.22 RPS17 Zornitza Stark Mode of inheritance for gene: RPS17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.21 RPS17 Zornitza Stark reviewed gene: RPS17: Rating: GREEN; Mode of pathogenicity: None; Publications: 17647292, 19061985, 23812780, 23718193; Phenotypes: Diamond-Blackfan anemia 4, MIM# 612527; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.123 RPS17 Zornitza Stark Marked gene: RPS17 as ready
Bone Marrow Failure v0.123 RPS17 Zornitza Stark Gene: rps17 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.123 RPS17 Zornitza Stark Classified gene: RPS17 as Green List (high evidence)
Bone Marrow Failure v0.123 RPS17 Zornitza Stark Gene: rps17 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.122 RPS17 Zornitza Stark gene: RPS17 was added
gene: RPS17 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS17 were set to 17647292; 19061985; 23812780; 23718193
Phenotypes for gene: RPS17 were set to Diamond-Blackfan anemia 4, MIM# 612527
Review for gene: RPS17 was set to GREEN
Added comment: Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anaemia, reticulocytopaenia, and nearly absent erythroid progenitors in the bone marrow. Individuals show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of haemoglobin F. However, some do not exhibit these findings, and even in the same family, symptoms can vary between affected family members. At least 5 families reported with variants in this gene.
Sources: Expert list
Mendeliome v0.4421 RPL9 Zornitza Stark Marked gene: RPL9 as ready
Mendeliome v0.4421 RPL9 Zornitza Stark Gene: rpl9 has been classified as Red List (Low Evidence).
Mendeliome v0.4421 RPL9 Zornitza Stark gene: RPL9 was added
gene: RPL9 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: RPL9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL9 were set to 29114930; 20116044
Phenotypes for gene: RPL9 were set to Diamond Blackfan anaemia
Review for gene: RPL9 was set to RED
Added comment: PMID: 29114930, de novo splice site variant, c.-2+1G>C, functional impact of this variant is likely deleterious but not proven. Inherited missense variant reported in PMID 20116044, p.Arg125Ser is present in 31 hets in gnomad.
Sources: Expert list
Bone Marrow Failure v0.121 RPL9 Zornitza Stark Marked gene: RPL9 as ready
Bone Marrow Failure v0.121 RPL9 Zornitza Stark Gene: rpl9 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.121 RPL9 Zornitza Stark gene: RPL9 was added
gene: RPL9 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: RPL9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL9 were set to 29114930; 20116044
Phenotypes for gene: RPL9 were set to Diamond Blackfan anaemia
Review for gene: RPL9 was set to RED
Added comment: PMID: 29114930, de novo splice site variant, c.-2+1G>C, functional impact of this variant is likely deleterious but not proven. Inherited missense variant reported in PMID 20116044, p.Arg125Ser is present in 31 hets in gnomad.
Sources: Expert list
Diamond Blackfan anaemia v0.21 RPL9 Zornitza Stark Marked gene: RPL9 as ready
Diamond Blackfan anaemia v0.21 RPL9 Zornitza Stark Gene: rpl9 has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v0.21 RPL9 Zornitza Stark gene: RPL9 was added
gene: RPL9 was added to Diamond Blackfan anaemia. Sources: Expert list
Mode of inheritance for gene: RPL9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL9 were set to 29114930; 20116044
Phenotypes for gene: RPL9 were set to Diamond Blackfan anaemia
Review for gene: RPL9 was set to RED
Added comment: PMID: 29114930, de novo splice site variant, c.-2+1G>C, functional impact of this variant is likely deleterious but not proven. Inherited missense variant reported in PMID 20116044, p.Arg125Ser is present in 31 hets in gnomad.
Sources: Expert list
Mendeliome v0.4420 RPL31 Zornitza Stark Marked gene: RPL31 as ready
Mendeliome v0.4420 RPL31 Zornitza Stark Gene: rpl31 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4420 RPL31 Zornitza Stark Phenotypes for gene: RPL31 were changed from to Diamond Blackfan anaemia
Mendeliome v0.4419 RPL31 Zornitza Stark Publications for gene: RPL31 were set to
Mendeliome v0.4418 RPL31 Zornitza Stark Mode of inheritance for gene: RPL31 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4417 RPL31 Zornitza Stark Classified gene: RPL31 as Amber List (moderate evidence)
Mendeliome v0.4417 RPL31 Zornitza Stark Gene: rpl31 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4416 RPL31 Zornitza Stark reviewed gene: RPL31: Rating: AMBER; Mode of pathogenicity: None; Publications: 25042156, 25424902; Phenotypes: Diamond Blackfan anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.20 RPL31 Zornitza Stark Marked gene: RPL31 as ready
Diamond Blackfan anaemia v0.20 RPL31 Zornitza Stark Gene: rpl31 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.20 RPL31 Zornitza Stark Phenotypes for gene: RPL31 were changed from to Diamond Blackfan anaemia
Diamond Blackfan anaemia v0.19 RPL31 Zornitza Stark Publications for gene: RPL31 were set to
Diamond Blackfan anaemia v0.18 RPL31 Zornitza Stark Mode of inheritance for gene: RPL31 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.17 RPL31 Zornitza Stark Classified gene: RPL31 as Amber List (moderate evidence)
Diamond Blackfan anaemia v0.17 RPL31 Zornitza Stark Gene: rpl31 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.16 RPL31 Zornitza Stark reviewed gene: RPL31: Rating: AMBER; Mode of pathogenicity: None; Publications: 25042156, 25424902; Phenotypes: Diamond Blackfan anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.120 RPL31 Zornitza Stark Marked gene: RPL31 as ready
Bone Marrow Failure v0.120 RPL31 Zornitza Stark Gene: rpl31 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.120 RPL31 Zornitza Stark Classified gene: RPL31 as Amber List (moderate evidence)
Bone Marrow Failure v0.120 RPL31 Zornitza Stark Gene: rpl31 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.119 RPL31 Zornitza Stark gene: RPL31 was added
gene: RPL31 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: RPL31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL31 were set to 25042156; 25424902
Phenotypes for gene: RPL31 were set to Diamond Blackfan anaemia
Review for gene: RPL31 was set to AMBER
Added comment: Three individuals reported with DBA phenotype and variants in this gene: one with a large, multi-gene deletion which is de novo. One with a de novo splice site variant that does not disrupt the coding sequence, but is predicted to generate 2 open-reading frames (ORF) upstream of the RPL31 ORF and was thus postulated to impair translation of RPL31 mRNA (arguably a VOUS). The third individual was reported in PMID 25042156 with a missense variant, no segregation or functional data available, this variant is a VOUS.
Sources: Expert list
Mendeliome v0.4416 PUS1 Zornitza Stark Marked gene: PUS1 as ready
Mendeliome v0.4416 PUS1 Zornitza Stark Gene: pus1 has been classified as Green List (High Evidence).
Mendeliome v0.4416 PUS1 Zornitza Stark Phenotypes for gene: PUS1 were changed from to Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462
Mendeliome v0.4415 PUS1 Zornitza Stark Publications for gene: PUS1 were set to
Mendeliome v0.4414 PUS1 Zornitza Stark Mode of inheritance for gene: PUS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4413 PUS1 Zornitza Stark reviewed gene: PUS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25227147, 17056637, 15108122, 32287105, 31641589, 28832011; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.118 PUS1 Zornitza Stark Marked gene: PUS1 as ready
Bone Marrow Failure v0.118 PUS1 Zornitza Stark Gene: pus1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.118 PUS1 Zornitza Stark Phenotypes for gene: PUS1 were changed from to Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462
Bone Marrow Failure v0.117 PUS1 Zornitza Stark Publications for gene: PUS1 were set to
Bone Marrow Failure v0.116 PUS1 Zornitza Stark Mode of inheritance for gene: PUS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.115 PUS1 Zornitza Stark reviewed gene: PUS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25227147, 17056637, 15108122, 32287105, 31641589, 28832011; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4413 OXSR1 Zornitza Stark Marked gene: OXSR1 as ready
Mendeliome v0.4413 OXSR1 Zornitza Stark Gene: oxsr1 has been classified as Red List (Low Evidence).
Mendeliome v0.4413 OXSR1 Zornitza Stark Classified gene: OXSR1 as Red List (low evidence)
Mendeliome v0.4413 OXSR1 Zornitza Stark Gene: oxsr1 has been classified as Red List (Low Evidence).
Mendeliome v0.4412 OXSR1 Zornitza Stark reviewed gene: OXSR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Bone Marrow Failure v0.115 PSTPIP1 Zornitza Stark Marked gene: PSTPIP1 as ready
Bone Marrow Failure v0.115 PSTPIP1 Zornitza Stark Gene: pstpip1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.115 PSTPIP1 Zornitza Stark Phenotypes for gene: PSTPIP1 were changed from to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416
Bone Marrow Failure v0.114 PSTPIP1 Zornitza Stark Mode of inheritance for gene: PSTPIP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.113 PSTPIP1 Zornitza Stark reviewed gene: PSTPIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.113 NPM1 Zornitza Stark reviewed gene: NPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.90 NHP2 Zornitza Stark Marked gene: NHP2 as ready
Cancer Predisposition_Paediatric v0.90 NHP2 Zornitza Stark Gene: nhp2 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.90 NHP2 Zornitza Stark Phenotypes for gene: NHP2 were changed from to Dyskeratosis congenita, autosomal recessive 2, MIM# 613987
Cancer Predisposition_Paediatric v0.89 NHP2 Zornitza Stark Publications for gene: NHP2 were set to
Cancer Predisposition_Paediatric v0.88 NHP2 Zornitza Stark Mode of inheritance for gene: NHP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.87 NHP2 Zornitza Stark reviewed gene: NHP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18523010, 31985013; Phenotypes: Dyskeratosis congenita, autosomal recessive 2, MIM# 613987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4412 NHP2 Zornitza Stark Marked gene: NHP2 as ready
Mendeliome v0.4412 NHP2 Zornitza Stark Gene: nhp2 has been classified as Green List (High Evidence).
Mendeliome v0.4412 NHP2 Zornitza Stark Phenotypes for gene: NHP2 were changed from to Dyskeratosis congenita, autosomal recessive 2, MIM# 613987
Mendeliome v0.4411 NHP2 Zornitza Stark Publications for gene: NHP2 were set to
Mendeliome v0.4410 NHP2 Zornitza Stark Mode of inheritance for gene: NHP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4409 NHP2 Zornitza Stark reviewed gene: NHP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18523010, 31985013; Phenotypes: Dyskeratosis congenita, autosomal recessive 2, MIM# 613987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4409 GGT1 Elena Savva reviewed gene: GGT1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29483667, 23615310; Phenotypes: ?Glutathioninuria 231950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4409 JPT1 Elena Savva reviewed gene: JPT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Bone Marrow Failure v0.113 NHP2 Zornitza Stark Marked gene: NHP2 as ready
Bone Marrow Failure v0.113 NHP2 Zornitza Stark Gene: nhp2 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.113 NHP2 Zornitza Stark Phenotypes for gene: NHP2 were changed from to Dyskeratosis congenita, autosomal recessive 2, MIM# 613987
Bone Marrow Failure v0.112 NHP2 Zornitza Stark Publications for gene: NHP2 were set to
Bone Marrow Failure v0.111 NHP2 Zornitza Stark Mode of inheritance for gene: NHP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.110 NHP2 Zornitza Stark edited their review of gene: NHP2: Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.110 NHP2 Zornitza Stark reviewed gene: NHP2: Rating: ; Mode of pathogenicity: None; Publications: 18523010, 31985013; Phenotypes: Dyskeratosis congenita, autosomal recessive 2, MIM# 613987; Mode of inheritance: None
Bone Marrow Failure v0.110 MYH9 Zornitza Stark Marked gene: MYH9 as ready
Bone Marrow Failure v0.110 MYH9 Zornitza Stark Gene: myh9 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.110 MYH9 Zornitza Stark Phenotypes for gene: MYH9 were changed from to Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100
Bone Marrow Failure v0.109 MYH9 Zornitza Stark Publications for gene: MYH9 were set to
Bone Marrow Failure v0.108 MYH9 Zornitza Stark Mode of inheritance for gene: MYH9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.107 MYH9 Zornitza Stark reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 10973259, 10973260; Phenotypes: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4409 LIG4 Zornitza Stark Marked gene: LIG4 as ready
Mendeliome v0.4409 LIG4 Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence).
Mendeliome v0.4409 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from to LIG4 syndrome, MIM# 606593
Mendeliome v0.4408 LIG4 Zornitza Stark Publications for gene: LIG4 were set to
Mendeliome v0.4407 LIG4 Zornitza Stark Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4406 LIG4 Zornitza Stark reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11779494, 16088910, 15333585, 20133615; Phenotypes: LIG4 syndrome, MIM# 606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.107 LIG4 Zornitza Stark Marked gene: LIG4 as ready
Bone Marrow Failure v0.107 LIG4 Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.26 LIG4 Zornitza Stark Marked gene: LIG4 as ready
Chromosome Breakage Disorders v0.26 LIG4 Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.26 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from to LIG4 syndrome, MIM# 606593
Chromosome Breakage Disorders v0.25 LIG4 Zornitza Stark Publications for gene: LIG4 were set to
Chromosome Breakage Disorders v0.24 LIG4 Zornitza Stark Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.107 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from to LIG4 syndrome, MIM# 606593
Chromosome Breakage Disorders v0.23 LIG4 Zornitza Stark reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11779494, 16088910, 15333585, 20133615; Phenotypes: LIG4 syndrome, MIM# 606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.106 LIG4 Zornitza Stark Publications for gene: LIG4 were set to
Bone Marrow Failure v0.105 LIG4 Zornitza Stark Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.104 LIG4 Zornitza Stark reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11779494, 16088910, 15333585, 20133615; Phenotypes: LIG4 syndrome, MIM# 606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.104 KIF23 Zornitza Stark Marked gene: KIF23 as ready
Bone Marrow Failure v0.104 KIF23 Zornitza Stark Gene: kif23 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.104 KIF23 Zornitza Stark gene: KIF23 was added
gene: KIF23 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: KIF23 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF23 were set to 23570799
Phenotypes for gene: KIF23 were set to Congenital dyserythropoietic anemia type III
Review for gene: KIF23 was set to RED
Added comment: Single family reported only.
Sources: Expert list
Mendeliome v0.4406 HOXA11 Zornitza Stark Marked gene: HOXA11 as ready
Mendeliome v0.4406 HOXA11 Zornitza Stark Gene: hoxa11 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4406 HOXA11 Zornitza Stark Phenotypes for gene: HOXA11 were changed from to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432
Mendeliome v0.4405 HOXA11 Zornitza Stark Publications for gene: HOXA11 were set to
Mendeliome v0.4404 HOXA11 Zornitza Stark Mode of inheritance for gene: HOXA11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4403 HOXA11 Zornitza Stark Classified gene: HOXA11 as Amber List (moderate evidence)
Mendeliome v0.4403 HOXA11 Zornitza Stark Gene: hoxa11 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4402 HOXA11 Zornitza Stark reviewed gene: HOXA11: Rating: AMBER; Mode of pathogenicity: None; Publications: 11101832, 16765069; Phenotypes: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.195 HOXA11 Zornitza Stark Classified gene: HOXA11 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.195 HOXA11 Zornitza Stark Gene: hoxa11 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.194 HOXA11 Zornitza Stark commented on gene: HOXA11: Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm. Two families reported in 2000, segregating same variant. Some functional data. No further reports since.
Bone Marrow Failure v0.103 HOXA11 Zornitza Stark Publications for gene: HOXA11 were set to 11101832
Bleeding and Platelet Disorders v0.194 HOXA11 Zornitza Stark edited their review of gene: HOXA11: Changed rating: AMBER; Changed phenotypes: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MM# 605432
Bone Marrow Failure v0.102 HOXA11 Zornitza Stark edited their review of gene: HOXA11: Changed publications: 11101832, 16765069
Bone Marrow Failure v0.102 HOXA11 Zornitza Stark Marked gene: HOXA11 as ready
Bone Marrow Failure v0.102 HOXA11 Zornitza Stark Gene: hoxa11 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.102 HOXA11 Zornitza Stark Phenotypes for gene: HOXA11 were changed from to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432
Bone Marrow Failure v0.101 HOXA11 Zornitza Stark Publications for gene: HOXA11 were set to
Bone Marrow Failure v0.100 HOXA11 Zornitza Stark Mode of inheritance for gene: HOXA11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.99 HOXA11 Zornitza Stark Classified gene: HOXA11 as Amber List (moderate evidence)
Bone Marrow Failure v0.99 HOXA11 Zornitza Stark Gene: hoxa11 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.98 HOXA11 Zornitza Stark reviewed gene: HOXA11: Rating: AMBER; Mode of pathogenicity: None; Publications: 11101832; Phenotypes: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.98 Zornitza Stark removed gene:GP1BA from the panel
Bone Marrow Failure v0.97 GLRX5 Zornitza Stark Marked gene: GLRX5 as ready
Bone Marrow Failure v0.97 GLRX5 Zornitza Stark Gene: glrx5 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.97 GLRX5 Zornitza Stark Phenotypes for gene: GLRX5 were changed from to Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860
Bone Marrow Failure v0.96 GLRX5 Zornitza Stark Publications for gene: GLRX5 were set to
Bone Marrow Failure v0.95 GLRX5 Zornitza Stark Mode of inheritance for gene: GLRX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.94 GLRX5 Zornitza Stark reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 17485548, 25342667, 30660387; Phenotypes: Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.94 FECH Zornitza Stark Marked gene: FECH as ready
Bone Marrow Failure v0.94 FECH Zornitza Stark Gene: fech has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.94 FECH Zornitza Stark Phenotypes for gene: FECH were changed from to Protoporphyria, erythropoietic, 1, MIM# 177000
Bone Marrow Failure v0.93 FECH Zornitza Stark Mode of inheritance for gene: FECH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.92 FECH Zornitza Stark Classified gene: FECH as Red List (low evidence)
Bone Marrow Failure v0.92 FECH Zornitza Stark Gene: fech has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.91 FECH Zornitza Stark reviewed gene: FECH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Protoporphyria, erythropoietic, 1, MIM# 177000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.91 ERCC4 Zornitza Stark Marked gene: ERCC4 as ready
Bone Marrow Failure v0.91 ERCC4 Zornitza Stark Gene: ercc4 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.91 ERCC4 Zornitza Stark Phenotypes for gene: ERCC4 were changed from to Fanconi anemia, complementation group Q, MIM# 615272
Bone Marrow Failure v0.90 ERCC4 Zornitza Stark Publications for gene: ERCC4 were set to
Bone Marrow Failure v0.89 ERCC4 Zornitza Stark Mode of inheritance for gene: ERCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.88 ERCC4 Zornitza Stark reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23623386; Phenotypes: Fanconi anemia, complementation group Q, MIM# 615272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - adult onset v0.111 ERCC4 Zornitza Stark Marked gene: ERCC4 as ready
Ataxia - adult onset v0.111 ERCC4 Zornitza Stark Gene: ercc4 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.111 ERCC4 Zornitza Stark Classified gene: ERCC4 as Green List (high evidence)
Ataxia - adult onset v0.111 ERCC4 Zornitza Stark Gene: ercc4 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.110 ERCC4 Zornitza Stark gene: ERCC4 was added
gene: ERCC4 was added to Ataxia - adult onset. Sources: Expert list
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC4 were set to 29403087; 28431612; 29892709
Phenotypes for gene: ERCC4 were set to Cerebellar ataxia; Xeroderma pigmentosum, group F, MIM# 278760
Review for gene: ERCC4 was set to GREEN
Added comment: Bi-allelic variants in ERCC4 cause a range of phenotypes, including xeroderma pigmentosum complementation group F (XP-F), Cockayne syndrome, and Fanconi anaemia.

Seven unrelated individuals reported with slowly progressive cerebellar ataxia and cognitive decline with choreiform involuntary movement, with onset in adolescence/adulthood. Brain MRIs demonstrated atrophy that included the cerebellum and brainstem. Of note, cutaneous symptoms were very mild in 5/7: there was normal to very mild pigmentation of exposed skin areas and/or an equivocal history of pathological sunburn.
Sources: Expert list
Bone Marrow Failure v0.88 DDX41 Zornitza Stark edited their review of gene: DDX41: Added comment: Approximately half of individuals reported in this cohort experienced cytopaenia in the years preceding the diagnosis of a malignancy.; Changed publications: 31698430, 31484648; Changed phenotypes: {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871
Dystonia_Superpanel v0.198 Zornitza Stark Panel name changed from Dystonia to Dystonia_Superpanel
Bone Marrow Failure v0.88 ALAS2 Zornitza Stark Marked gene: ALAS2 as ready
Bone Marrow Failure v0.88 ALAS2 Zornitza Stark Gene: alas2 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.88 ALAS2 Zornitza Stark Phenotypes for gene: ALAS2 were changed from to Anemia, sideroblastic, 1, MIM# 300751
Bone Marrow Failure v0.87 ALAS2 Zornitza Stark Publications for gene: ALAS2 were set to
Bone Marrow Failure v0.86 ALAS2 Zornitza Stark Mode of inheritance for gene: ALAS2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.85 ALAS2 Zornitza Stark reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10029606; Phenotypes: Anemia, sideroblastic, 1, MIM# 300751; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.85 AK2 Zornitza Stark reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19043416; Phenotypes: Reticular dysgenesis, MIM# 267500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.85 ABCB7 Zornitza Stark Marked gene: ABCB7 as ready
Bone Marrow Failure v0.85 ABCB7 Zornitza Stark Gene: abcb7 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.85 ABCB7 Zornitza Stark Phenotypes for gene: ABCB7 were changed from to Anemia, sideroblastic, with ataxia, MIM# 301310
Bone Marrow Failure v0.84 ABCB7 Zornitza Stark Publications for gene: ABCB7 were set to
Bone Marrow Failure v0.83 ABCB7 Zornitza Stark Mode of inheritance for gene: ABCB7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.82 ABCB7 Zornitza Stark reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10196363; Phenotypes: Anemia, sideroblastic, with ataxia, MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Episodic Ataxia v0.22 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Episodic Ataxia v0.21 BCKDHB Zornitza Stark Marked gene: BCKDHB as ready
Episodic Ataxia v0.21 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence).
Episodic Ataxia v0.21 BCKDHB Zornitza Stark Classified gene: BCKDHB as Green List (high evidence)
Episodic Ataxia v0.21 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence).
Episodic Ataxia v0.20 CACNB4 Zornitza Stark Publications for gene: CACNB4 were set to
Episodic Ataxia v0.19 UBR4 Zornitza Stark Marked gene: UBR4 as ready
Episodic Ataxia v0.19 UBR4 Zornitza Stark Gene: ubr4 has been classified as Amber List (Moderate Evidence).
Episodic Ataxia v0.19 UBR4 Zornitza Stark Publications for gene: UBR4 were set to
Episodic Ataxia v0.18 KCNA1 Zornitza Stark Marked gene: KCNA1 as ready
Episodic Ataxia v0.18 KCNA1 Zornitza Stark Gene: kcna1 has been classified as Green List (High Evidence).
Episodic Ataxia v0.18 KCNA1 Zornitza Stark Publications for gene: KCNA1 were set to
Episodic Ataxia v0.17 KCNA1 Zornitza Stark Mode of pathogenicity for gene: KCNA1 was changed from None to Other
Episodic Ataxia v0.16 CACNA1A Zornitza Stark Marked gene: CACNA1A as ready
Episodic Ataxia v0.16 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Green List (High Evidence).
Episodic Ataxia v0.16 CACNA1A Zornitza Stark Tag STR tag was added to gene: CACNA1A.
Ataxia_Superpanel v0.370 Zornitza Stark Panel name changed from Ataxia to Ataxia_Superpanel
Changed child panels to: Ataxia - paediatric; Ataxia - adult onset; Episodic Ataxia
Ataxia - paediatric v0.257 XRCC1 Zornitza Stark Tag founder tag was added to gene: XRCC1.
Ataxia - paediatric v0.257 UCHL1 Zornitza Stark changed review comment from: Ataxia is part of the phenotype.
Sources: Expert list; to: Ataxia is part of the phenotype. Two unrelated families and a mouse model.
Sources: Expert list
Ataxia - paediatric v0.257 UCHL1 Zornitza Stark edited their review of gene: UCHL1: Changed publications: 28007905, 23359680, 11555633
Ataxia - adult onset v0.109 TGM6 Zornitza Stark Tag refuted tag was added to gene: TGM6.
Regression v0.161 TGM6 Zornitza Stark Tag disputed was removed from gene: TGM6.
Tag refuted tag was added to gene: TGM6.
Mendeliome v0.4402 TGM6 Zornitza Stark Marked gene: TGM6 as ready
Mendeliome v0.4402 TGM6 Zornitza Stark Gene: tgm6 has been classified as Red List (Low Evidence).
Mendeliome v0.4402 TGM6 Zornitza Stark Phenotypes for gene: TGM6 were changed from to Spinocerebellar ataxia 35, MIM# 613908
Mendeliome v0.4401 TGM6 Zornitza Stark Publications for gene: TGM6 were set to
Mendeliome v0.4400 TGM6 Zornitza Stark Mode of inheritance for gene: TGM6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4399 TGM6 Zornitza Stark Classified gene: TGM6 as Red List (low evidence)
Mendeliome v0.4399 TGM6 Zornitza Stark Gene: tgm6 has been classified as Red List (Low Evidence).
Mendeliome v0.4398 TGM6 Zornitza Stark Tag refuted tag was added to gene: TGM6.
Mendeliome v0.4398 TGM6 Zornitza Stark Deleted their comment
Regression v0.161 TGM6 Zornitza Stark Phenotypes for gene: TGM6 were changed from to Spinocerebellar ataxia 35, MIM# 613908
Mendeliome v0.4398 TGM6 Zornitza Stark reviewed gene: TGM6: Rating: RED; Mode of pathogenicity: None; Publications: 30670339, 32426513; Phenotypes: Spinocerebellar ataxia 35, MIM# 613908; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.160 TGM6 Zornitza Stark Publications for gene: TGM6 were set to
Regression v0.159 TGM6 Zornitza Stark Mode of inheritance for gene: TGM6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.158 TGM6 Zornitza Stark Classified gene: TGM6 as Red List (low evidence)
Regression v0.158 TGM6 Zornitza Stark Gene: tgm6 has been classified as Red List (Low Evidence).
Regression v0.157 TGM6 Zornitza Stark Tag disputed tag was added to gene: TGM6.
Regression v0.157 TGM6 Zornitza Stark edited their review of gene: TGM6: Added comment: Recent publication refutes the association of this gene with SCA:
In a Chinese exome sequencing cohort, 8 families were identified with reported TGM6 variants sharing no features of SCA35. These variants were significantly more common in the East Asian gnomAD sub-population than in other ethnic groups (P < 0.0001). Gene constraint metrics showed that both missense and loss-of-function variants in TGM6 are likely to be tolerated and there is no regional constraint. Inflation analysis demonstrated that the cumulative frequency of TGM6 reported pathogenic variants is at least 111-fold inflated over disease prevalence of all autosomal dominant SCAs, indicating a high chance of misdiagnosis or low penetrance.; Changed publications: 30670339, 32426513
Regression v0.157 TGM6 Zornitza Stark reviewed gene: TGM6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 35, MIM# 613908; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3007 SVBP Zornitza Stark Tag founder tag was added to gene: SVBP.
Intellectual disability syndromic and non-syndromic v0.3007 SVBP Zornitza Stark reviewed gene: SVBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM #618569; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.481 SVBP Zornitza Stark Tag founder tag was added to gene: SVBP.
Microcephaly v0.481 SVBP Zornitza Stark changed review comment from: 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; to: 5 unrelated families with homozygous mutations in SVBP. Some shared the same founder variant, p.Q28*. 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 v0.4398 SVBP Zornitza Stark Tag founder tag was added to gene: SVBP.
Mendeliome v0.4398 SVBP Zornitza Stark changed review comment from: 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; to: 5 unrelated families with homozygous mutations in SVBP. Some shared the same founder variant, p.Q28*. 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
Ataxia - paediatric v0.257 SVBP Zornitza Stark Tag founder tag was added to gene: SVBP.
Ataxia - paediatric v0.257 SVBP Zornitza Stark changed review comment from: 5 unrelated families with homozygous mutations in SVBP; syndromic cause of paediatric ataxia. 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; to: 5 unrelated families with homozygous mutations in SVBP; syndromic cause of paediatric ataxia. Some shared the same founder variant, p.Q28*. 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 v0.4398 SQSTM1 Zornitza Stark Marked gene: SQSTM1 as ready
Mendeliome v0.4398 SQSTM1 Zornitza Stark Gene: sqstm1 has been classified as Green List (High Evidence).
Mendeliome v0.4398 SQSTM1 Zornitza Stark Phenotypes for gene: SQSTM1 were changed from to Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145
Mendeliome v0.4397 SQSTM1 Zornitza Stark Publications for gene: SQSTM1 were set to
Mendeliome v0.4396 SQSTM1 Zornitza Stark Mode of inheritance for gene: SQSTM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4395 SQSTM1 Zornitza Stark changed review comment from: Four unrelated families, presenting feature of this progressive neurological disorder was ataxia.; to: Nine individuals from four unrelated families.
Ataxia - paediatric v0.257 SLC52A2 Zornitza Stark changed review comment from: Generally presents with a range of neuropathies but ataxia described.; to: Generally presents with a range of neuropathies but ataxia described. Treatable condition.
Ataxia - paediatric v0.257 SLC52A2 Zornitza Stark edited their review of gene: SLC52A2: Changed publications: 30377535
Ataxia - paediatric v0.257 SLC44A1 Zornitza Stark edited their review of gene: SLC44A1: Changed phenotypes: Childhood-onset neurodegeneration, progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria, Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, MIM# 618868
Mitochondrial disease v0.490 SLC25A46 Zornitza Stark Marked gene: SLC25A46 as ready
Mitochondrial disease v0.490 SLC25A46 Zornitza Stark Gene: slc25a46 has been classified as Green List (High Evidence).
Mitochondrial disease v0.490 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from to Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505
Mitochondrial disease v0.489 SLC25A46 Zornitza Stark Publications for gene: SLC25A46 were set to
Mitochondrial disease v0.488 SLC25A46 Zornitza Stark Mode of inheritance for gene: SLC25A46 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.487 SLC25A46 Zornitza Stark reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: 30178502, 26168012, 27543974, 27430653, 27390132, 28934388, 28558379; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4395 SLC25A46 Zornitza Stark Marked gene: SLC25A46 as ready
Mendeliome v0.4395 SLC25A46 Zornitza Stark Gene: slc25a46 has been classified as Green List (High Evidence).
Mendeliome v0.4395 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from to Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505
Mendeliome v0.4394 SLC25A46 Zornitza Stark Publications for gene: SLC25A46 were set to
Mendeliome v0.4393 SLC25A46 Zornitza Stark Mode of inheritance for gene: SLC25A46 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4392 SLC25A46 Zornitza Stark changed review comment from: Age of onset is variable, but childhood onset described. Ataxia is a feature.; to: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus.

At least 10 unrelated families reported, supportive functional data.
Mendeliome v0.4392 SLC25A46 Zornitza Stark edited their review of gene: SLC25A46: Changed publications: 30178502, 26168012, 27543974, 27430653, 27390132, 28934388, 28558379
Ataxia - paediatric v0.257 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from Hereditary motor and sensory neuropathy type VIB, 616505 to Hereditary motor and sensory neuropathy type VIB, MIM#616505
Ataxia - paediatric v0.256 SLC25A46 Zornitza Stark Publications for gene: SLC25A46 were set to
Ataxia - paediatric v0.255 SLC25A46 Zornitza Stark changed review comment from: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus.

Nine unrelated families reported, supportive functional data.; to: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus.

At least 10 unrelated families reported, supportive functional data.
Ataxia - paediatric v0.255 SLC25A46 Zornitza Stark edited their review of gene: SLC25A46: Changed publications: 30178502, 26168012, 27543974, 27430653, 27390132, 28934388, 28558379
Ataxia - paediatric v0.255 SLC25A46 Zornitza Stark changed review comment from: Age of onset is variable, but childhood onset described. Ataxia is a feature.; to: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus.

Nine unrelated families reported, supportive functional data.
Ataxia - paediatric v0.255 SLC25A46 Zornitza Stark edited their review of gene: SLC25A46: Changed publications: 30178502
Ataxia - paediatric v0.255 SLC17A5 Zornitza Stark Publications for gene: SLC17A5 were set to
Ataxia - paediatric v0.254 SLC17A5 Zornitza Stark edited their review of gene: SLC17A5: Changed publications: 26171070
Lymphoedema_syndromic v0.5 SOS2 Zornitza Stark Marked gene: SOS2 as ready
Lymphoedema_syndromic v0.5 SOS2 Zornitza Stark Gene: sos2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.254 SCYL1 Zornitza Stark changed review comment from: Childhood onset.; to: Childhood onset, at least 7 unrelated families reported.
Ataxia - paediatric v0.254 SCN8A Zornitza Stark Marked gene: SCN8A as ready
Ataxia - paediatric v0.254 SCN8A Zornitza Stark Gene: scn8a has been classified as Green List (High Evidence).
Ataxia - paediatric v0.254 SCN8A Zornitza Stark Phenotypes for gene: SCN8A were changed from epilepsy; Benign familial infantile seizures 5, 617080; paroxysmal kinesigenic dyskinesias; Epileptic encephalopathy 13, 614558; Cognitive impairment with or without cerebellar ataxia, 614306 to Epileptic encephalopathy 13, 614558; Cognitive impairment with or without cerebellar ataxia, 614306
Ataxia - paediatric v0.253 SCN8A Zornitza Stark Publications for gene: SCN8A were set to
Ataxia - paediatric v0.252 SCN8A Zornitza Stark reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31904124, 31887642, 31675620; Phenotypes: Cognitive impairment with or without cerebellar ataxia, MIM# 614306, Epileptic encephalopathy, early infantile, 13, MIM# 614558; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - paediatric v0.252 SCN2A Zornitza Stark changed review comment from: Classically presents with seizures and DD/ID although a range of other manifestations reported, including movement abnormalities, including ataxia.; to: Classically presents with seizures and DD/ID although a range of other manifestations reported, including movement abnormalities, including ataxia, especially episodic ataxia.
Ataxia - paediatric v0.252 SCN2A Zornitza Stark edited their review of gene: SCN2A: Changed publications: 31924505, 32893078, 31904126
Ataxia - paediatric v0.252 SCN1A Zornitza Stark Publications for gene: SCN1A were set to
Ataxia - paediatric v0.251 SCN1A Zornitza Stark edited their review of gene: SCN1A: Changed publications: 27264139, 27817982, 28732259
Ataxia - paediatric v0.251 RUBCN Zornitza Stark changed review comment from: Two consanguineous families reported in the literature with homozygous truncating variants in this gene and ataxia.; to: Three consanguineous families reported in the literature with homozygous truncating variants in this gene and ataxia. Two have the same founder variant.
Ataxia - paediatric v0.251 RUBCN Zornitza Stark edited their review of gene: RUBCN: Changed publications: 20826435, 30237576, 32450808
Genetic Epilepsy v0.860 RORA Zornitza Stark Marked gene: RORA as ready
Genetic Epilepsy v0.860 RORA Zornitza Stark Gene: rora has been classified as Green List (High Evidence).
Genetic Epilepsy v0.860 RORA Zornitza Stark Phenotypes for gene: RORA were changed from to Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060
Genetic Epilepsy v0.859 RORA Zornitza Stark Publications for gene: RORA were set to
Genetic Epilepsy v0.858 RORA Zornitza Stark Mode of inheritance for gene: RORA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.857 RORA Zornitza Stark reviewed gene: RORA: Rating: GREEN; Mode of pathogenicity: None; Publications: 29656859; Phenotypes: Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4392 RORA Zornitza Stark Marked gene: RORA as ready
Mendeliome v0.4392 RORA Zornitza Stark Gene: rora has been classified as Green List (High Evidence).
Mendeliome v0.4392 RORA Zornitza Stark Phenotypes for gene: RORA were changed from to Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060
Mendeliome v0.4391 RORA Zornitza Stark Publications for gene: RORA were set to
Mendeliome v0.4390 RORA Zornitza Stark Mode of inheritance for gene: RORA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4389 RORA Zornitza Stark reviewed gene: RORA: Rating: GREEN; Mode of pathogenicity: None; Publications: 29656859; Phenotypes: Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - paediatric v0.251 RORA Zornitza Stark changed review comment from: 11 unrelated individuals with syndromic intellectual disability and de novo variants in this gene. Severity varied from mild borderline intellectual disability with mild speech delay or normal speech, through to severe cognitive impairment with poor or absent speech. Most had ataxia, hypotonia, poor coordination, and/or mild tremor, suggesting cerebellar dysfunction. Three individuals had documented cerebellar hypoplasia or pontocerebellar atrophy on brain imaging. Seven had seizures of variable types, including neonatal myoclonic, tonic-clonic, multifocal, generalized, and absence. Five were diagnosed with autism spectrum disorder. More variable features included strabismus, esotropia, nystagmus, and oculomotor apraxia; to: 11 unrelated individuals with syndromic intellectual disability and de novo variants in this gene. Severity varied from mild borderline intellectual disability with mild speech delay or normal speech, through to severe cognitive impairment with poor or absent speech. Most had ataxia, hypotonia, poor coordination, and/or mild tremor, suggesting cerebellar dysfunction. Three individuals had documented cerebellar hypoplasia or pontocerebellar atrophy on brain imaging. Seven had seizures of variable types, including neonatal myoclonic, tonic-clonic, multifocal, generalized, and absence. Five were diagnosed with autism spectrum disorder. More variable features included strabismus, esotropia, nystagmus, and oculomotor apraxia.

Postulated that some variants exert dominant-negative effect resulting in a more severe phenotype than the LoF variants.
Ataxia - paediatric v0.251 RORA Zornitza Stark Marked gene: RORA as ready
Ataxia - paediatric v0.251 RORA Zornitza Stark Gene: rora has been classified as Green List (High Evidence).
Ataxia - paediatric v0.251 RORA Zornitza Stark Publications for gene: RORA were set to
Ataxia - paediatric v0.250 RORA Zornitza Stark reviewed gene: RORA: Rating: GREEN; Mode of pathogenicity: None; Publications: 29656859; Phenotypes: Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - paediatric v0.250 PRICKLE1 Zornitza Stark Marked gene: PRICKLE1 as ready
Ataxia - paediatric v0.250 PRICKLE1 Zornitza Stark Gene: prickle1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.250 PRICKLE1 Zornitza Stark Publications for gene: PRICKLE1 were set to
Ataxia - paediatric v0.249 PRICKLE1 Zornitza Stark reviewed gene: PRICKLE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301774; Phenotypes: Epilepsy, progressive myoclonic 1B, MIM# 612437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - adult onset v0.109 PEX7 Zornitza Stark Marked gene: PEX7 as ready
Ataxia - adult onset v0.109 PEX7 Zornitza Stark Gene: pex7 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.109 PEX7 Zornitza Stark Classified gene: PEX7 as Green List (high evidence)
Ataxia - adult onset v0.109 PEX7 Zornitza Stark Gene: pex7 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.108 PEX7 Zornitza Stark gene: PEX7 was added
gene: PEX7 was added to Ataxia - adult onset. Sources: Expert list
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX7 were set to 25851898
Phenotypes for gene: PEX7 were set to Peroxisome biogenesis disorder 9B, MIM# 614879
Review for gene: PEX7 was set to GREEN
Added comment: Three individuals reported where ataxia was part of the phenotype, onset in young adulthood.
Sources: Expert list
Ataxia - paediatric v0.249 PEX7 Zornitza Stark edited their review of gene: PEX7: Changed publications: 25851898
Ataxia - paediatric v0.249 OPA1 Zornitza Stark Publications for gene: OPA1 were set to 30165240
Ataxia - paediatric v0.248 OPA1 Zornitza Stark reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28494813; Phenotypes: Optic atrophy plus syndrome, MIM# 125250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - paediatric v0.248 MORC2 Zornitza Stark Marked gene: MORC2 as ready
Ataxia - paediatric v0.248 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.248 MORC2 Zornitza Stark Classified gene: MORC2 as Green List (high evidence)
Ataxia - paediatric v0.248 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.247 MORC2 Zornitza Stark gene: MORC2 was added
gene: MORC2 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MORC2 were set to 28402445
Phenotypes for gene: MORC2 were set to Axonal type CMT disease type 2Z, 616688; Cerebellar ataxia
Review for gene: MORC2 was set to GREEN
Added comment: The p.Thr362Arg variant has been reported as a de novo event in unrelated families with cerebellar ataxia in addition to CMT and nocturnal hypoventilation.
Sources: Expert list
Mendeliome v0.4389 MAPK8IP3 Zornitza Stark Deleted their comment
Mendeliome v0.4389 MAPK8IP3 Zornitza Stark edited their review of gene: MAPK8IP3: Added comment: 18 unrelated individuals reported with de novo variants and a neurodevelopmental disorder characterised by global developmental delay, variably impaired intellectual development, and poor or absent speech. Additional features may include hypotonia, spasticity, or ataxia. About half have abnormal findings on brain imaging, including cerebral or cerebellar atrophy, loss of white matter volume, thin corpus callosum, and perisylvian polymicrogyria. Seizures are not a prominent finding, and nonspecific dysmorphic facial features are described.; Changed publications: 30612693, 30945334
Intellectual disability syndromic and non-syndromic v0.3007 MAPK8IP3 Zornitza Stark Publications for gene: MAPK8IP3 were set to 30612693
Intellectual disability syndromic and non-syndromic v0.3006 MAPK8IP3 Zornitza Stark reviewed gene: MAPK8IP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30612693, 30945334; Phenotypes: Neurodevelopmental disorder with or without variable brain abnormalities, MIM# 618443; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - paediatric v0.246 MAPK8IP3 Zornitza Stark Phenotypes for gene: MAPK8IP3 were changed from Intellectual Disability with variable brain anomalies; Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431 to Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431
Ataxia - paediatric v0.245 MAPK8IP3 Zornitza Stark Publications for gene: MAPK8IP3 were set to 30612693
Ataxia - paediatric v0.244 MAPK8IP3 Zornitza Stark Classified gene: MAPK8IP3 as Amber List (moderate evidence)
Ataxia - paediatric v0.244 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.243 MAPK8IP3 Zornitza Stark changed review comment from: >3 reported individuals and functional evidence in Caenorhabditis elegans
Sources: Literature; to: 18 reported individuals of whom 2 had ataxia.
Sources: Literature
Ataxia - paediatric v0.243 MAPK8IP3 Zornitza Stark edited their review of gene: MAPK8IP3: Changed publications: 30612693, 30945334
Ataxia - paediatric v0.243 MAPK8IP3 Zornitza Stark edited their review of gene: MAPK8IP3: Changed rating: AMBER
Leukodystrophy - adult onset v0.82 LARS2 Zornitza Stark Marked gene: LARS2 as ready
Leukodystrophy - adult onset v0.82 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.82 LARS2 Zornitza Stark Classified gene: LARS2 as Green List (high evidence)
Leukodystrophy - adult onset v0.82 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.81 LARS2 Zornitza Stark gene: LARS2 was added
gene: LARS2 was added to Leukodystrophy - adult onset. Sources: Literature
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARS2 were set to 32442335; 30737337
Phenotypes for gene: LARS2 were set to Leukodystrophy
Review for gene: LARS2 was set to GREEN
Added comment: Five individuals reported where leukodystrophy was part of LARS2-associated Perrault syndrome. Neurological decline and MRI abnormalities were primarily in adulthood.
Sources: Literature
Mendeliome v0.4389 LARS2 Zornitza Stark Marked gene: LARS2 as ready
Mendeliome v0.4389 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Mendeliome v0.4389 LARS2 Zornitza Stark Phenotypes for gene: LARS2 were changed from to Perrault syndrome 4; Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021; Leukodystrophy
Mendeliome v0.4388 LARS2 Zornitza Stark Publications for gene: LARS2 were set to
Mendeliome v0.4387 LARS2 Zornitza Stark Mode of inheritance for gene: LARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4386 LARS2 Zornitza Stark reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29205794, 32423379, 30737337, 26537577, 23541342; Phenotypes: Perrault syndrome 4, Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021, Leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.243 LARS2 Zornitza Stark Marked gene: LARS2 as ready
Ataxia - paediatric v0.243 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.243 LARS2 Zornitza Stark Phenotypes for gene: LARS2 were changed from Perrault syndrome 4 to Perrault syndrome 4; Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021; Leukodystrophy
Ataxia - paediatric v0.242 LARS2 Zornitza Stark Publications for gene: LARS2 were set to
Ataxia - paediatric v0.241 LARS2 Zornitza Stark reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29205794, 32423379, 30737337; Phenotypes: Perrault syndrome 4, MIM# 615300, Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021, Leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.241 LAMA1 Zornitza Stark Publications for gene: LAMA1 were set to 26932191
Mendeliome v0.4386 LAMA1 Zornitza Stark Marked gene: LAMA1 as ready
Mendeliome v0.4386 LAMA1 Zornitza Stark Gene: lama1 has been classified as Green List (High Evidence).
Mendeliome v0.4386 LAMA1 Zornitza Stark Phenotypes for gene: LAMA1 were changed from to Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts; Poretti Boltshauser syndrome MIM#615960
Mendeliome v0.4385 LAMA1 Zornitza Stark Publications for gene: LAMA1 were set to
Mendeliome v0.4384 LAMA1 Zornitza Stark Mode of inheritance for gene: LAMA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4383 LAMA1 Zornitza Stark edited their review of gene: LAMA1: Changed publications: 25105227
Mendeliome v0.4383 LAMA1 Zornitza Stark changed review comment from: Ataxia is part of the phenotype.
Sources: Expert list; to: Five unrelated families reported.
Sources: Expert list
Ataxia - paediatric v0.240 LAMA1 Zornitza Stark commented on gene: LAMA1: Five unrelated families reported.
Ataxia - paediatric v0.240 LAMA1 Zornitza Stark edited their review of gene: LAMA1: Changed publications: 25105227
Intellectual disability syndromic and non-syndromic v0.3006 KCNA2 Zornitza Stark Marked gene: KCNA2 as ready
Intellectual disability syndromic and non-syndromic v0.3006 KCNA2 Zornitza Stark Gene: kcna2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3006 KCNA2 Zornitza Stark Phenotypes for gene: KCNA2 were changed from to Early infantile encephalopathy 32, MIM#616366
Intellectual disability syndromic and non-syndromic v0.3005 KCNA2 Zornitza Stark Publications for gene: KCNA2 were set to
Intellectual disability syndromic and non-syndromic v0.3004 KCNA2 Zornitza Stark Mode of inheritance for gene: KCNA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3003 KCNA2 Zornitza Stark reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29050392; Phenotypes: Early infantile encephalopathy 32, MIM#616366; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.857 KCNA2 Zornitza Stark Marked gene: KCNA2 as ready
Genetic Epilepsy v0.857 KCNA2 Zornitza Stark Gene: kcna2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.857 KCNA2 Zornitza Stark Phenotypes for gene: KCNA2 were changed from to Early infantile encephalopathy 32, MIM#616366
Genetic Epilepsy v0.856 KCNA2 Zornitza Stark Publications for gene: KCNA2 were set to
Genetic Epilepsy v0.855 KCNA2 Zornitza Stark Mode of inheritance for gene: KCNA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.854 KCNA2 Zornitza Stark reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29050392; Phenotypes: Early infantile encephalopathy 32, MIM#616366; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4383 KCNA2 Zornitza Stark Marked gene: KCNA2 as ready
Mendeliome v0.4383 KCNA2 Zornitza Stark Gene: kcna2 has been classified as Green List (High Evidence).
Mendeliome v0.4383 KCNA2 Zornitza Stark Phenotypes for gene: KCNA2 were changed from to Early infantile encephalopathy 32, MIM#616366
Mendeliome v0.4382 KCNA2 Zornitza Stark Publications for gene: KCNA2 were set to
Mendeliome v0.4381 KCNA2 Zornitza Stark Mode of inheritance for gene: KCNA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4380 KCNA2 Zornitza Stark Deleted their comment
Mendeliome v0.4380 KCNA2 Zornitza Stark commented on gene: KCNA2: Review of 23 affected individuals in PMID 29050392: some variants are LoF and others GoF, and some genotype-phenotype correlations made. The main differences were (i) predominant focal (loss-of-function) versus generalized (gain-of-function) seizures and corresponding epileptic discharges with prominent sleep activation in most cases with loss-of-function mutations; (ii) more severe epilepsy, developmental problems and ataxia, and atrophy of the cerebellum or even the whole brain in about half of the patients with gain-of-function mutations; and (iii) most severe early-onset phenotypes, occasionally with neonatal onset epilepsy and developmental impairment, as well as generalised and focal seizures and EEG abnormalities for patients with gain- and loss-of-function mutations.
Ataxia - paediatric v0.240 KCNA2 Zornitza Stark commented on gene: KCNA2: Review of 23 affected individuals in PMID 29050392: some variants are LoF and others GoF, and some genotype-phenotype correlations made. The main differences were (i) predominant focal (loss-of-function) versus generalized (gain-of-function) seizures and corresponding epileptic discharges with prominent sleep activation in most cases with loss-of-function mutations; (ii) more severe epilepsy, developmental problems and ataxia, and atrophy of the cerebellum or even the whole brain in about half of the patients with gain-of-function mutations; and (iii) most severe early-onset phenotypes, occasionally with neonatal onset epilepsy and developmental impairment, as well as generalised and focal seizures and EEG abnormalities for patients with gain- and loss-of-function mutations.
Ataxia - paediatric v0.240 IRF2BPL Zornitza Stark reviewed gene: IRF2BPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 30057031; Phenotypes: Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM# 618088; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disease v0.487 HARS2 Zornitza Stark Marked gene: HARS2 as ready
Mitochondrial disease v0.487 HARS2 Zornitza Stark Gene: hars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.487 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from to Perrault syndrome 2, MIM# 614926
Mitochondrial disease v0.486 HARS2 Zornitza Stark Publications for gene: HARS2 were set to
Mitochondrial disease v0.485 HARS2 Zornitza Stark Mode of inheritance for gene: HARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.484 HARS2 Zornitza Stark reviewed gene: HARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31827252; Phenotypes: Perrault syndrome 2, MIM# 614926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4380 HARS2 Zornitza Stark Marked gene: HARS2 as ready
Mendeliome v0.4380 HARS2 Zornitza Stark Gene: hars2 has been classified as Green List (High Evidence).
Mendeliome v0.4380 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from to Perrault syndrome 2, MIM# 614926
Mendeliome v0.4379 HARS2 Zornitza Stark Publications for gene: HARS2 were set to
Mendeliome v0.4378 HARS2 Zornitza Stark Mode of inheritance for gene: HARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4377 HARS2 Zornitza Stark reviewed gene: HARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31827252; Phenotypes: Perrault syndrome 2, MIM# 614926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.240 HARS2 Zornitza Stark Marked gene: HARS2 as ready
Ataxia - paediatric v0.240 HARS2 Zornitza Stark Gene: hars2 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.240 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from Perrault syndrome 2 to Perrault syndrome 2, MIM# 614926
Ataxia - paediatric v0.239 HARS2 Zornitza Stark Publications for gene: HARS2 were set to
Ataxia - paediatric v0.238 HARS2 Zornitza Stark Classified gene: HARS2 as Red List (low evidence)
Ataxia - paediatric v0.238 HARS2 Zornitza Stark Gene: hars2 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.237 HARS2 Zornitza Stark reviewed gene: HARS2: Rating: RED; Mode of pathogenicity: None; Publications: 31827252; Phenotypes: Perrault syndrome 2, MIM# 614926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.237 GSS Zornitza Stark Marked gene: GSS as ready
Ataxia - paediatric v0.237 GSS Zornitza Stark Gene: gss has been classified as Green List (High Evidence).
Ataxia - paediatric v0.237 GSS Zornitza Stark Phenotypes for gene: GSS were changed from Gluthathione synthetase deficiency to Gluthathione synthetase deficiency, MIM# 266130
Ataxia - paediatric v0.236 GSS Zornitza Stark Publications for gene: GSS were set to
Ataxia - paediatric v0.235 GSS Zornitza Stark reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: None; Publications: 15717202; Phenotypes: Glutathione synthetase deficiency, MIM# 266130; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.235 FBXL4 Zornitza Stark Marked gene: FBXL4 as ready
Ataxia - paediatric v0.235 FBXL4 Zornitza Stark Gene: fbxl4 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.235 FBXL4 Zornitza Stark Phenotypes for gene: FBXL4 were changed from Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), MIM# 615471
Ataxia - paediatric v0.234 FBXL4 Zornitza Stark Publications for gene: FBXL4 were set to
Ataxia - paediatric v0.233 FBXL4 Zornitza Stark reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28383868; Phenotypes: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), MIM# 615471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4377 ELOVL5 Zornitza Stark reviewed gene: ELOVL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 25065913; Phenotypes: Spinocerebellar ataxia 38, MIM# 615957; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - adult onset v0.107 ELOVL5 Zornitza Stark Phenotypes for gene: ELOVL5 were changed from Spinocerebellar ataxia 38, 615957; Spinocerebellar ataxia 36 615957 to Spinocerebellar ataxia 38, MIM#615957
Ataxia - adult onset v0.106 ELOVL5 Zornitza Stark Marked gene: ELOVL5 as ready
Ataxia - adult onset v0.106 ELOVL5 Zornitza Stark Gene: elovl5 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.106 ELOVL5 Zornitza Stark Publications for gene: ELOVL5 were set to
Ataxia - adult onset v0.105 ELOVL5 Zornitza Stark reviewed gene: ELOVL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 25065913; Phenotypes: Spinocerebellar ataxia 38, MIM# 615957; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3003 EBF3 Zornitza Stark Marked gene: EBF3 as ready
Intellectual disability syndromic and non-syndromic v0.3003 EBF3 Zornitza Stark Gene: ebf3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3003 EBF3 Zornitza Stark Phenotypes for gene: EBF3 were changed from to Hypotonia, ataxia, and delayed development syndrome, MIM# 617330
Intellectual disability syndromic and non-syndromic v0.3002 EBF3 Zornitza Stark Publications for gene: EBF3 were set to
Intellectual disability syndromic and non-syndromic v0.3001 EBF3 Zornitza Stark Mode of inheritance for gene: EBF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3000 EBF3 Zornitza Stark reviewed gene: EBF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28017373, 28017372, 28017370, 32366537; Phenotypes: Hypotonia, ataxia, and delayed development syndrome, MIM# 617330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4377 EBF3 Zornitza Stark Marked gene: EBF3 as ready
Mendeliome v0.4377 EBF3 Zornitza Stark Gene: ebf3 has been classified as Green List (High Evidence).
Mendeliome v0.4377 EBF3 Zornitza Stark Phenotypes for gene: EBF3 were changed from to Hypotonia, ataxia, and delayed development syndrome, MIM# 617330
Mendeliome v0.4376 EBF3 Zornitza Stark Publications for gene: EBF3 were set to
Mendeliome v0.4375 EBF3 Zornitza Stark Mode of inheritance for gene: EBF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4374 EBF3 Zornitza Stark reviewed gene: EBF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28017373, 28017372, 28017370, 32366537; Phenotypes: Hypotonia, ataxia, and delayed development syndrome, MIM# 617330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - paediatric v0.233 EBF3 Zornitza Stark reviewed gene: EBF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28017373, 28017372, 28017370, 32366537; Phenotypes: Hypotonia, ataxia, and delayed development syndrome, MIM# 617330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3000 DOCK3 Zornitza Stark Marked gene: DOCK3 as ready
Intellectual disability syndromic and non-syndromic v0.3000 DOCK3 Zornitza Stark Gene: dock3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3000 DOCK3 Zornitza Stark Phenotypes for gene: DOCK3 were changed from to Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292
Intellectual disability syndromic and non-syndromic v0.2999 DOCK3 Zornitza Stark Publications for gene: DOCK3 were set to
Intellectual disability syndromic and non-syndromic v0.2998 DOCK3 Zornitza Stark Mode of inheritance for gene: DOCK3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2997 DOCK3 Zornitza Stark reviewed gene: DOCK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28195318, 29130632, 30976111; Phenotypes: Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4374 DOCK3 Zornitza Stark Marked gene: DOCK3 as ready
Mendeliome v0.4374 DOCK3 Zornitza Stark Gene: dock3 has been classified as Green List (High Evidence).
Mendeliome v0.4374 DOCK3 Zornitza Stark Phenotypes for gene: DOCK3 were changed from to Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292
Mendeliome v0.4373 DOCK3 Zornitza Stark Publications for gene: DOCK3 were set to
Mendeliome v0.4372 DOCK3 Zornitza Stark Mode of inheritance for gene: DOCK3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4371 DOCK3 Zornitza Stark reviewed gene: DOCK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28195318, 29130632, 30976111; Phenotypes: Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.233 DOCK3 Zornitza Stark reviewed gene: DOCK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28195318, 29130632, 30976111; Phenotypes: Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.233 CSTB Zornitza Stark changed review comment from: Myoclonic epilepsy of Unverricht and Lundborg is an autosomal recessive disorder characterized by onset of neurodegeneration between 6 and 13 years of age. It is typically progressive in adolescence, with dramatic worsening of myoclonus and ataxia in the first 6 years after onset. The disease stabilises in early adulthood, and myoclonus and ataxia may even improve, and there is minimal to no cognitive decline.

Note the most common causative allele is a dodecamer repeat in the promoter region.; to: Myoclonic epilepsy of Unverricht and Lundborg is an autosomal recessive disorder characterized by onset of neurodegeneration between 6 and 13 years of age. It is typically progressive in adolescence, with dramatic worsening of myoclonus and ataxia in the first 6 years after onset. The disease stabilises in early adulthood, and myoclonus and ataxia may even improve, and there is minimal to no cognitive decline.

Note the most common causative allele is a dodecamer repeat in the promoter region. Missense variants have been reported, most commonly compound het with the repeat, except for p.Gly4Arg which has been reported in the homozygous state also.
Progressive Myoclonic Epilepsy v0.8 CSTB Zornitza Stark Marked gene: CSTB as ready
Progressive Myoclonic Epilepsy v0.8 CSTB Zornitza Stark Gene: cstb has been classified as Green List (High Evidence).
Progressive Myoclonic Epilepsy v0.8 CSTB Zornitza Stark Phenotypes for gene: CSTB were changed from Unverricht-Lundborg syndrome; Epilepsy, progressive myoclonic type 1 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800
Progressive Myoclonic Epilepsy v0.7 CSTB Zornitza Stark Publications for gene: CSTB were set to
Progressive Myoclonic Epilepsy v0.6 CSTB Zornitza Stark Tag 5'UTR tag was added to gene: CSTB.
Tag STR tag was added to gene: CSTB.
Progressive Myoclonic Epilepsy v0.6 CSTB Zornitza Stark reviewed gene: CSTB: Rating: GREEN; Mode of pathogenicity: None; Publications: 9012407, 9054946; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.22 CSTB Zornitza Stark Tag 5'UTR tag was added to gene: CSTB.
Tag STR tag was added to gene: CSTB.
Mackenzie's Mission_Reproductive Carrier Screening v0.22 CSTB Zornitza Stark reviewed gene: CSTB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800; Mode of inheritance: None
Ataxia - paediatric v0.233 CSTB Zornitza Stark Tag STR tag was added to gene: CSTB.
Ataxia - paediatric v0.233 CSTB Zornitza Stark Marked gene: CSTB as ready
Ataxia - paediatric v0.233 CSTB Zornitza Stark Gene: cstb has been classified as Green List (High Evidence).
Ataxia - paediatric v0.233 CSTB Zornitza Stark Phenotypes for gene: CSTB were changed from Progressive myoclonic epilepsy 1A, 254800; Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM#254800
Ataxia - paediatric v0.232 CSTB Zornitza Stark Publications for gene: CSTB were set to
Ataxia - paediatric v0.231 CSTB Zornitza Stark Tag 5'UTR tag was added to gene: CSTB.
Ataxia - paediatric v0.231 CSTB Zornitza Stark reviewed gene: CSTB: Rating: GREEN; Mode of pathogenicity: None; Publications: 9012407, 9054946; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.231 CLPP Zornitza Stark Marked gene: CLPP as ready
Ataxia - paediatric v0.231 CLPP Zornitza Stark Gene: clpp has been classified as Green List (High Evidence).
Ataxia - paediatric v0.231 CLPP Zornitza Stark Phenotypes for gene: CLPP were changed from Perrault syndrome 3 to Perrault syndrome 3, MIM# 614129
Ataxia - paediatric v0.230 CLPP Zornitza Stark Publications for gene: CLPP were set to
Ataxia - paediatric v0.229 CLPP Zornitza Stark reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: None; Publications: 25254289; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.229 CLN5 Zornitza Stark Marked gene: CLN5 as ready
Ataxia - paediatric v0.229 CLN5 Zornitza Stark Gene: cln5 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.229 CLN5 Zornitza Stark Phenotypes for gene: CLN5 were changed from Ceroid lipofuscinosis neuronal 5 to Ceroid lipofuscinosis neuronal 5, MIM# 256731
Ataxia - paediatric v0.228 CLN5 Zornitza Stark reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 5, MIM# 256731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4371 ATP8A2 Zornitza Stark Marked gene: ATP8A2 as ready
Mendeliome v0.4371 ATP8A2 Zornitza Stark Gene: atp8a2 has been classified as Green List (High Evidence).
Mendeliome v0.4371 ATP8A2 Zornitza Stark Phenotypes for gene: ATP8A2 were changed from to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268
Mendeliome v0.4370 ATP8A2 Zornitza Stark Publications for gene: ATP8A2 were set to
Mendeliome v0.4369 ATP8A2 Zornitza Stark Mode of inheritance for gene: ATP8A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4368 ATP8A2 Zornitza Stark changed review comment from: Multiple individuals from unrelated families reported with bi-allelic variants in this gene and neurological phenotypes including intellectual disability.
Sources: Expert list; to: 10 individuals from six unrelated families reported with bi-allelic variants in this gene and neurological phenotypes including intellectual disability.
Sources: Expert list
Ataxia - paediatric v0.228 ATP8A2 Zornitza Stark changed review comment from: Multiple individuals from unrelated families reported with bi-allelic variants in this gene and neurological phenotypes including intellectual disability and cerebellar ataxia.
Sources: Expert list; to: 10 individuals from six unrelated families reported with bi-allelic variants in this gene and neurological phenotypes including intellectual disability and cerebellar ataxia.
Sources: Expert list
Ataxia - paediatric v0.228 ATP8A2 Zornitza Stark changed review comment from: Multiple individuals from unrelated families reported with bi-allelic variants in this gene and neurological phenotypes including intellectual disability.
Sources: Expert list; to: Multiple individuals from unrelated families reported with bi-allelic variants in this gene and neurological phenotypes including intellectual disability and cerebellar ataxia.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2997 ALDH5A1 Zornitza Stark Marked gene: ALDH5A1 as ready
Intellectual disability syndromic and non-syndromic v0.2997 ALDH5A1 Zornitza Stark Gene: aldh5a1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2997 ALDH5A1 Zornitza Stark Phenotypes for gene: ALDH5A1 were changed from to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Intellectual disability syndromic and non-syndromic v0.2996 ALDH5A1 Zornitza Stark Publications for gene: ALDH5A1 were set to
Intellectual disability syndromic and non-syndromic v0.2995 ALDH5A1 Zornitza Stark Mode of inheritance for gene: ALDH5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2994 ALDH5A1 Zornitza Stark reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14635103; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, MIM# 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.228 ALDH5A1 Zornitza Stark Phenotypes for gene: ALDH5A1 were changed from Succinate-semialdehyde dehydrogenase deficiency to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Ataxia - paediatric v0.227 ALDH5A1 Zornitza Stark Marked gene: ALDH5A1 as ready
Ataxia - paediatric v0.227 ALDH5A1 Zornitza Stark Gene: aldh5a1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.227 ALDH5A1 Zornitza Stark Publications for gene: ALDH5A1 were set to
Ataxia - paediatric v0.226 ALDH5A1 Zornitza Stark reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14635103; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, MIM# 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.22 ADPRHL2 Zornitza Stark gene: ADPRHL2 was added
gene: ADPRHL2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
new gene name tags were added to gene: ADPRHL2.
Mode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADPRHL2 were set to 30100084; 30401461
Phenotypes for gene: ADPRHL2 were set to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170
Review for gene: ADPRHL2 was set to GREEN
Added comment: Fourteen unrelated families reported with stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS), an autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development. The disorder is characterised by cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some individuals develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy.

New HGNC approved name is ADPRS.
Sources: Expert Review
Hereditary Neuropathy - complex v0.77 ADPRHL2 Zornitza Stark Marked gene: ADPRHL2 as ready
Hereditary Neuropathy - complex v0.77 ADPRHL2 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is ADPRS.
Hereditary Neuropathy - complex v0.77 ADPRHL2 Zornitza Stark Gene: adprhl2 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.77 ADPRHL2 Zornitza Stark Tag new gene name tag was added to gene: ADPRHL2.
Regression v0.157 ADPRHL2 Zornitza Stark Marked gene: ADPRHL2 as ready
Regression v0.157 ADPRHL2 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is ADPRS.
Regression v0.157 ADPRHL2 Zornitza Stark Gene: adprhl2 has been classified as Green List (High Evidence).
Regression v0.157 ADPRHL2 Zornitza Stark Tag new gene name tag was added to gene: ADPRHL2.
Genetic Epilepsy v0.854 ADPRHL2 Zornitza Stark Marked gene: ADPRHL2 as ready
Genetic Epilepsy v0.854 ADPRHL2 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is ADPRS.
Genetic Epilepsy v0.854 ADPRHL2 Zornitza Stark Gene: adprhl2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.854 ADPRHL2 Zornitza Stark Tag new gene name tag was added to gene: ADPRHL2.
Genetic Epilepsy v0.854 ADPRHL2 Zornitza Stark reviewed gene: ADPRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30100084, 30401461; Phenotypes: Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4368 ADPRHL2 Zornitza Stark Marked gene: ADPRHL2 as ready
Mendeliome v0.4368 ADPRHL2 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is ADPRS.
Mendeliome v0.4368 ADPRHL2 Zornitza Stark Gene: adprhl2 has been classified as Green List (High Evidence).
Mendeliome v0.4368 ADPRHL2 Zornitza Stark Tag new gene name tag was added to gene: ADPRHL2.
Ataxia - paediatric v0.226 ADPRHL2 Zornitza Stark Publications for gene: ADPRHL2 were set to
Ataxia - paediatric v0.225 ADPRHL2 Zornitza Stark Marked gene: ADPRHL2 as ready
Ataxia - paediatric v0.225 ADPRHL2 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is ADPRS.
Ataxia - paediatric v0.225 ADPRHL2 Zornitza Stark Gene: adprhl2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.225 ADPRHL2 Zornitza Stark Tag new gene name tag was added to gene: ADPRHL2.
Ataxia - paediatric v0.225 ADPRHL2 Zornitza Stark Deleted their comment
Ataxia - paediatric v0.225 ADPRHL2 Zornitza Stark edited their review of gene: ADPRHL2: Added comment: Fourteen unrelated families reported with stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS), an autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development. The disorder is characterised by cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some individuals develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy; Changed publications: 30100084, 30401461
Ataxia - paediatric v0.225 ACO2 Zornitza Stark changed review comment from: Ataxia is part of the phenotype.
Sources: Expert list; to: Ataxia is part of the phenotype, particularly in more mildly affected individuals, where it can be a presenting feature. Episodic ataxia also reported.
Sources: Expert list
Ataxia - paediatric v0.225 ACO2 Zornitza Stark edited their review of gene: ACO2: Changed publications: 32519519
Achromatopsia v0.28 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Achromatopsia v0.27 PDE6H Zornitza Stark changed review comment from: Variants in this gene cause a spectrum of disorders along the retinal cone dystrophy/achromatopsia spectrum. Two families reported only with achromatopsia.; to: Variants in this gene cause a spectrum of disorders along the retinal cone dystrophy/achromatopsia spectrum. Two families reported only with achromatopsia and bi-allelic variants.
Achromatopsia v0.27 PDE6H Zornitza Stark Marked gene: PDE6H as ready
Achromatopsia v0.27 PDE6H Zornitza Stark Gene: pde6h has been classified as Green List (High Evidence).
Achromatopsia v0.27 PDE6H Zornitza Stark Publications for gene: PDE6H were set to
Achromatopsia v0.26 PDE6H Zornitza Stark Mode of inheritance for gene: PDE6H was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Achromatopsia v0.25 PDE6H Zornitza Stark reviewed gene: PDE6H: Rating: GREEN; Mode of pathogenicity: None; Publications: 22901948; Phenotypes: Achromatopsia 6, MIM# 610024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Achromatopsia v0.25 PDE6C Zornitza Stark Marked gene: PDE6C as ready
Achromatopsia v0.25 PDE6C Zornitza Stark Gene: pde6c has been classified as Green List (High Evidence).
Achromatopsia v0.25 PDE6C Zornitza Stark Phenotypes for gene: PDE6C were changed from Achromatopsia-5 to Achromatopsia-5; Cone dystrophy 4, MIM# 613093
Achromatopsia v0.24 PDE6C Zornitza Stark Publications for gene: PDE6C were set to
Achromatopsia v0.23 PDE6C Zornitza Stark reviewed gene: PDE6C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19615668, 30080950; Phenotypes: Cone dystrophy 4, MIM# 613093, Achromatopsia-5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4368 CNGB3 Zornitza Stark Marked gene: CNGB3 as ready
Mendeliome v0.4368 CNGB3 Zornitza Stark Gene: cngb3 has been classified as Green List (High Evidence).
Mendeliome v0.4368 CNGB3 Zornitza Stark Phenotypes for gene: CNGB3 were changed from to Achromatopsia 3, MIM# 262300
Mendeliome v0.4367 CNGB3 Zornitza Stark Publications for gene: CNGB3 were set to
Mendeliome v0.4366 CNGB3 Zornitza Stark Mode of inheritance for gene: CNGB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4365 CNGB3 Zornitza Stark reviewed gene: CNGB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17265047; Phenotypes: Achromatopsia 3, MIM# 262300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Achromatopsia v0.23 CNGB3 Zornitza Stark Marked gene: CNGB3 as ready
Achromatopsia v0.23 CNGB3 Zornitza Stark Gene: cngb3 has been classified as Green List (High Evidence).
Achromatopsia v0.23 CNGB3 Zornitza Stark Publications for gene: CNGB3 were set to
Achromatopsia v0.22 CNGB3 Zornitza Stark reviewed gene: CNGB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17265047; Phenotypes: Achromatopsia 3, MIM# 262300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4365 CNGA3 Zornitza Stark Marked gene: CNGA3 as ready
Mendeliome v0.4365 CNGA3 Zornitza Stark Gene: cnga3 has been classified as Green List (High Evidence).
Mendeliome v0.4365 CNGA3 Zornitza Stark Phenotypes for gene: CNGA3 were changed from to Achromatopsia 2, MIM# 216900
Mendeliome v0.4364 CNGA3 Zornitza Stark Publications for gene: CNGA3 were set to
Mendeliome v0.4363 CNGA3 Zornitza Stark Mode of inheritance for gene: CNGA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4362 CNGA3 Zornitza Stark reviewed gene: CNGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9662398, 11536077, 17265047; Phenotypes: Achromatopsia 2, MIM# 216900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Achromatopsia v0.22 CNGA3 Zornitza Stark Marked gene: CNGA3 as ready
Achromatopsia v0.22 CNGA3 Zornitza Stark Gene: cnga3 has been classified as Green List (High Evidence).
Achromatopsia v0.22 CNGA3 Zornitza Stark Publications for gene: CNGA3 were set to
Achromatopsia v0.21 CNGA3 Zornitza Stark reviewed gene: CNGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9662398, 11536077, 17265047; Phenotypes: Achromatopsia 2, MIM# 216900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.52 SPRED1 Zornitza Stark Marked gene: SPRED1 as ready
Macrocephaly_Megalencephaly v0.52 SPRED1 Zornitza Stark Gene: spred1 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.52 SPRED1 Zornitza Stark Phenotypes for gene: SPRED1 were changed from to Legius syndrome, MIM# 611431
Macrocephaly_Megalencephaly v0.51 SPRED1 Zornitza Stark Publications for gene: SPRED1 were set to
Macrocephaly_Megalencephaly v0.50 SPRED1 Zornitza Stark Mode of inheritance for gene: SPRED1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.49 SPRED1 Zornitza Stark reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17704776, 19366998, 21548021; Phenotypes: Legius syndrome, MIM# 611431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2994 SPRED1 Zornitza Stark Marked gene: SPRED1 as ready
Intellectual disability syndromic and non-syndromic v0.2994 SPRED1 Zornitza Stark Gene: spred1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2994 SPRED1 Zornitza Stark Phenotypes for gene: SPRED1 were changed from to Legius syndrome, MIM# 611431
Intellectual disability syndromic and non-syndromic v0.2993 SPRED1 Zornitza Stark Publications for gene: SPRED1 were set to
Intellectual disability syndromic and non-syndromic v0.2992 SPRED1 Zornitza Stark Mode of inheritance for gene: SPRED1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2991 SPRED1 Zornitza Stark reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17704776, 19366998, 21548021; Phenotypes: Legius syndrome, MIM# 611431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4362 SPRED1 Zornitza Stark Marked gene: SPRED1 as ready
Mendeliome v0.4362 SPRED1 Zornitza Stark Gene: spred1 has been classified as Green List (High Evidence).
Mendeliome v0.4362 SPRED1 Zornitza Stark Phenotypes for gene: SPRED1 were changed from to Legius syndrome, MIM# 611431
Mendeliome v0.4361 SPRED1 Zornitza Stark Publications for gene: SPRED1 were set to
Mendeliome v0.4360 SPRED1 Zornitza Stark Mode of inheritance for gene: SPRED1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4359 SPRED1 Zornitza Stark reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17704776, 19366998, 21548021; Phenotypes: Legius syndrome, MIM# 611431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.86 SPRED1 Zornitza Stark Marked gene: SPRED1 as ready
Rasopathy v0.86 SPRED1 Zornitza Stark Gene: spred1 has been classified as Green List (High Evidence).
Rasopathy v0.86 SPRED1 Zornitza Stark Phenotypes for gene: SPRED1 were changed from to Legius syndrome, MIM# 611431
Rasopathy v0.85 SPRED1 Zornitza Stark Publications for gene: SPRED1 were set to
Rasopathy v0.84 SPRED1 Zornitza Stark Mode of inheritance for gene: SPRED1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.83 SPRED1 Zornitza Stark reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17704776, 19366998, 21548021; Phenotypes: Legius syndrome, MIM# 611431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.83 SOS2 Zornitza Stark edited their review of gene: SOS2: Changed publications: 26173643, 25795793, 32788663
Rasopathy v0.83 SOS2 Zornitza Stark Publications for gene: SOS2 were set to 25795793; 32788663
Lymphoedema_syndromic v0.5 SOS2 Zornitza Stark Publications for gene: SOS2 were set to 25795793; 26173643
Lymphoedema_syndromic v0.4 SOS2 Zornitza Stark reviewed gene: SOS2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25795793, 32788663; Phenotypes: Noonan syndrome 9, MIM# 616559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.197 SOS2 Zornitza Stark Marked gene: SOS2 as ready
Hydrops fetalis v0.197 SOS2 Zornitza Stark Gene: sos2 has been classified as Green List (High Evidence).
Hydrops fetalis v0.197 SOS2 Zornitza Stark Phenotypes for gene: SOS2 were changed from to Noonan syndrome 9, MIM# 616559
Hydrops fetalis v0.196 SOS2 Zornitza Stark Publications for gene: SOS2 were set to
Hydrops fetalis v0.195 SOS2 Zornitza Stark Mode of pathogenicity for gene: SOS2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Hydrops fetalis v0.194 SOS2 Zornitza Stark Mode of inheritance for gene: SOS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.193 SOS2 Zornitza Stark reviewed gene: SOS2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25795793, 32788663; Phenotypes: Noonan syndrome 9, MIM# 616559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4359 SOS2 Zornitza Stark Publications for gene: SOS2 were set to 26173643
Mendeliome v0.4358 SOS2 Zornitza Stark Publications for gene: SOS2 were set to 26173643
Mendeliome v0.4357 SOS2 Zornitza Stark Mode of pathogenicity for gene: SOS2 was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.4356 SOS2 Zornitza Stark reviewed gene: SOS2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25795793, 32788663; Phenotypes: Noonan syndrome 9, MIM# 616559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.82 SOS2 Zornitza Stark Marked gene: SOS2 as ready
Rasopathy v0.82 SOS2 Zornitza Stark Gene: sos2 has been classified as Green List (High Evidence).
Rasopathy v0.82 SOS2 Zornitza Stark Phenotypes for gene: SOS2 were changed from to Noonan syndrome 9, MIM# 616559
Rasopathy v0.81 SOS2 Zornitza Stark Publications for gene: SOS2 were set to
Rasopathy v0.80 SOS2 Zornitza Stark Mode of pathogenicity for gene: SOS2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Rasopathy v0.79 SOS2 Zornitza Stark Mode of inheritance for gene: SOS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.78 SOS2 Zornitza Stark reviewed gene: SOS2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25795793, 32788663; Phenotypes: Noonan syndrome 9, MIM# 616559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2991 SOS1 Zornitza Stark Marked gene: SOS1 as ready