PanelApp (staging)

Activity

Filter

Cancel
Date Panel Item Activity
3000 actions
Incidentalome v0.6 RABL3 Sue White Gene: rabl3 has been classified as Green List (High Evidence).
Incidentalome v0.6 RABL3 Sue White Classified gene: RABL3 as Green List (high evidence)
Incidentalome v0.6 RABL3 Sue White Gene: rabl3 has been classified as Green List (High Evidence).
Incidentalome v0.5 RABL3 Sue White gene: RABL3 was added
gene: RABL3 was added to Incidentalome_VCGS. Sources: Literature
Mode of inheritance for gene: RABL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RABL3 were set to 31406347
Phenotypes for gene: RABL3 were set to pancreatic carcinoma
Penetrance for gene: RABL3 were set to unknown
Review for gene: RABL3 was set to GREEN
Added comment: germline truncating variants associated with increased risk of pancreatic carcinoma
Sources: Literature
Mendeliome v0.706 NPM1 Sue White Marked gene: NPM1 as ready
Mendeliome v0.706 NPM1 Sue White Gene: npm1 has been classified as Green List (High Evidence).
Mendeliome v0.706 NPM1 Sue White Classified gene: NPM1 as Green List (high evidence)
Mendeliome v0.706 NPM1 Sue White Gene: npm1 has been classified as Green List (High Evidence).
Mendeliome v0.705 NPM1 Sue White gene: NPM1 was added
gene: NPM1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NPM1 were set to 31570891
Phenotypes for gene: NPM1 were set to radial ray defects; short stature; nail dsytrophy; bone marrow failure
Penetrance for gene: NPM1 were set to unknown
Review for gene: NPM1 was set to GREEN
Added comment: heterozygous variants cause dyskeratosis congenita
Sources: Literature
Radial Ray Abnormalities v0.3 NPM1 Sue White Classified gene: NPM1 as Green List (high evidence)
Radial Ray Abnormalities v0.3 NPM1 Sue White Gene: npm1 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.2 NPM1 Sue White Classified gene: NPM1 as Green List (high evidence)
Radial Ray Abnormalities v0.2 NPM1 Sue White Gene: npm1 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.1 NPM1 Sue White Marked gene: NPM1 as ready
Radial Ray Abnormalities v0.1 NPM1 Sue White Gene: npm1 has been classified as Red List (Low Evidence).
Radial Ray Abnormalities v0.1 NPM1 Sue White gene: NPM1 was added
gene: NPM1 was added to Radial Ray Abnormalities_VCGS. Sources: Literature
Mode of inheritance for gene: NPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NPM1 were set to 31570891
Phenotypes for gene: NPM1 were set to radial ray defects; short stature; nail dsytrophy; bone marrow failure
Penetrance for gene: NPM1 were set to unknown
Review for gene: NPM1 was set to GREEN
gene: NPM1 was marked as current diagnostic
Added comment: heterozygous variants cause dyskeratosis congenita phenotype
Sources: Literature
Mitochondrial disease v0.38 ATP5A1 Zornitza Stark Mode of inheritance for gene: ATP5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.37 ATP5A1 Zornitza Stark Classified gene: ATP5A1 as Amber List (moderate evidence)
Mitochondrial disease v0.37 ATP5A1 Zornitza Stark Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.36 ATP5A1 Zornitza Stark reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23599390; Phenotypes: Combined oxidative phosphorylation deficiency 22 616045, Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.173 ATP5A1 Zornitza Stark Marked gene: ATP5A1 as ready
Genetic Epilepsy v0.173 ATP5A1 Zornitza Stark Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.173 ATP5A1 Zornitza Stark Phenotypes for gene: ATP5A1 were changed from Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228 to Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228
Genetic Epilepsy v0.172 ATP5A1 Zornitza Stark Phenotypes for gene: ATP5A1 were changed from to Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228
Genetic Epilepsy v0.172 ATP5A1 Zornitza Stark Publications for gene: ATP5A1 were set to
Genetic Epilepsy v0.171 ATP5A1 Zornitza Stark Mode of inheritance for gene: ATP5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.170 ATP5A1 Zornitza Stark Classified gene: ATP5A1 as Amber List (moderate evidence)
Genetic Epilepsy v0.170 ATP5A1 Zornitza Stark Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.169 ATP5A1 Zornitza Stark reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23599390; Phenotypes: Combined oxidative phosphorylation deficiency 22 616045, Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.169 ASAH1 Zornitza Stark Classified gene: ASAH1 as Green List (high evidence)
Genetic Epilepsy v0.169 ASAH1 Zornitza Stark Gene: asah1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.168 ASAH1 Zornitza Stark gene: ASAH1 was added
gene: ASAH1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASAH1 were set to 8955159; 22703880; 27026573
Phenotypes for gene: ASAH1 were set to Spinal muscular atrophy with progressive myoclonic epilepsy, 159950
Review for gene: ASAH1 was set to GREEN
Added comment: AR SMA with progressive myoclonic epilepsy. Zhou et al, 2012 - 6 patients from 3 unrelated families. Family 1 - 3 aff sibs of consang turkish parents - progressive myoclonic epilepsy developed around 7 years of age. Family 2 - 2 Italian sisters - unrelated parents both had geralised epileptic seizures and myoclonic jerks from around 12 years of age. Family 3 - 1 aff girl - myoclonic seizures at age 11. First two families - hom missense variant T42M and family 3, compound het for T42M and a gene deletion, expression studies done. Dyment et al, 2014 - girl born of N.European descent - at 10 years, absence and atonic seizures and myoclonic jerks - compound het (missense and a nonsense) and segregated with disease.
Sources: Expert list
Genetic Epilepsy v0.167 ARG1 Zornitza Stark Marked gene: ARG1 as ready
Genetic Epilepsy v0.167 ARG1 Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.167 ARG1 Zornitza Stark Classified gene: ARG1 as Green List (high evidence)
Genetic Epilepsy v0.167 ARG1 Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.166 ARG1 Zornitza Stark gene: ARG1 was added
gene: ARG1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARG1 were set to 2365823; 29726057
Phenotypes for gene: ARG1 were set to Argininemia, 207800
Review for gene: ARG1 was set to GREEN
Added comment: Seizures are part of the phenotype of this metabolic condition.
Sources: Expert list
Mendeliome v0.704 AP2M1 Zornitza Stark Marked gene: AP2M1 as ready
Mendeliome v0.704 AP2M1 Zornitza Stark Gene: ap2m1 has been classified as Green List (High Evidence).
Mendeliome v0.704 AP2M1 Zornitza Stark Classified gene: AP2M1 as Green List (high evidence)
Mendeliome v0.704 AP2M1 Zornitza Stark Gene: ap2m1 has been classified as Green List (High Evidence).
Mendeliome v0.703 AP2M1 Zornitza Stark gene: AP2M1 was added
gene: AP2M1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: AP2M1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AP2M1 were set to 31104773
Phenotypes for gene: AP2M1 were set to Intellectual developmental disorder 60 with seizures, MIM# 618587
Review for gene: AP2M1 was set to GREEN
Added comment: Four unrelated individuals reported, recurrent variant, NM_004068.3:c.508C>T or p.Arg170Trp.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1523 AP2M1 Zornitza Stark Marked gene: AP2M1 as ready
Intellectual disability syndromic and non-syndromic v0.1523 AP2M1 Zornitza Stark Gene: ap2m1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.165 AP2M1 Zornitza Stark Marked gene: AP2M1 as ready
Genetic Epilepsy v0.165 AP2M1 Zornitza Stark Gene: ap2m1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1523 AP2M1 Zornitza Stark Classified gene: AP2M1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1523 AP2M1 Zornitza Stark Gene: ap2m1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1522 AP2M1 Zornitza Stark gene: AP2M1 was added
gene: AP2M1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: AP2M1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AP2M1 were set to 31104773
Phenotypes for gene: AP2M1 were set to Intellectual developmental disorder 60 with seizures, MIM# 618587
Review for gene: AP2M1 was set to GREEN
Added comment: Four unrelated individuals reported, recurrent variant, NM_004068.3:c.508C>T or p.Arg170Trp.
Sources: Expert list
Genetic Epilepsy v0.165 AP2M1 Zornitza Stark Classified gene: AP2M1 as Green List (high evidence)
Genetic Epilepsy v0.165 AP2M1 Zornitza Stark Gene: ap2m1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.164 AP2M1 Zornitza Stark Classified gene: AP2M1 as Green List (high evidence)
Genetic Epilepsy v0.164 AP2M1 Zornitza Stark Gene: ap2m1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.163 AP2M1 Zornitza Stark gene: AP2M1 was added
gene: AP2M1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: AP2M1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AP2M1 were set to 31104773
Phenotypes for gene: AP2M1 were set to Intellectual developmental disorder 60 with seizures, MIM# 618587
Review for gene: AP2M1 was set to GREEN
Added comment: Four unrelated individuals reported, recurrent variant, NM_004068.3:c.508C>T or p.Arg170Trp.
Sources: Expert list
Bone Marrow Failure v0.10 NPM1 Sue White Classified gene: NPM1 as Green List (high evidence)
Bone Marrow Failure v0.10 NPM1 Sue White Gene: npm1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.9 NPM1 Sue White Marked gene: NPM1 as ready
Bone Marrow Failure v0.9 NPM1 Sue White Gene: npm1 has been classified as Red List (Low Evidence).
Mendeliome v0.702 ALKBH8 Zornitza Stark Classified gene: ALKBH8 as Amber List (moderate evidence)
Mendeliome v0.702 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1521 ALKBH8 Zornitza Stark Classified gene: ALKBH8 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1521 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.162 ALKBH8 Zornitza Stark Marked gene: ALKBH8 as ready
Genetic Epilepsy v0.162 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.162 ALKBH8 Zornitza Stark Classified gene: ALKBH8 as Amber List (moderate evidence)
Genetic Epilepsy v0.162 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.161 ALKBH8 Zornitza Stark Classified gene: ALKBH8 as Amber List (moderate evidence)
Genetic Epilepsy v0.161 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.9 NPM1 Sue White gene: NPM1 was added
gene: NPM1 was added to Bone Marrow Failure_VCGS. Sources: Literature
Mode of inheritance for gene: NPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NPM1 were set to 31570891
Phenotypes for gene: NPM1 were set to radial ray defects; short stature; nail dsytrophy; bone marrow failure
Penetrance for gene: NPM1 were set to unknown
Mode of pathogenicity for gene: NPM1 was set to Other
Review for gene: NPM1 was set to GREEN
Added comment: heterozygous presumed LOF variants cause a dyskeratosis congenita phenotype
Sources: Literature
Genetic Epilepsy v0.160 ALKBH8 Zornitza Stark gene: ALKBH8 was added
gene: ALKBH8 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: ALKBH8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALKBH8 were set to 31079898
Phenotypes for gene: ALKBH8 were set to Intellectual developmental disorder, autosomal recessive 71, MIM# 618504
Review for gene: ALKBH8 was set to AMBER
Added comment: Two unrelated families reported, 6/7 affected individuals had seizures. Some functional data.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.34 RHOA Zornitza Stark Tag somatic tag was added to gene: RHOA.
Mendeliome v0.701 RHOA Zornitza Stark Tag somatic tag was added to gene: RHOA.
Genetic Epilepsy v0.159 AKT1 Zornitza Stark Marked gene: AKT1 as ready
Genetic Epilepsy v0.159 AKT1 Zornitza Stark Gene: akt1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.159 AKT1 Zornitza Stark Phenotypes for gene: AKT1 were changed from to Proteus syndrome, somatic, MIM# 176920
Genetic Epilepsy v0.158 AKT1 Zornitza Stark Publications for gene: AKT1 were set to
Genetic Epilepsy v0.157 AKT1 Zornitza Stark Mode of inheritance for gene: AKT1 was changed from Unknown to Other
Genetic Epilepsy v0.156 AKT1 Zornitza Stark Tag somatic tag was added to gene: AKT1.
Genetic Epilepsy v0.156 AKT1 Zornitza Stark reviewed gene: AKT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21793738; Phenotypes: Proteus syndrome, somatic, MIM# 176920; Mode of inheritance: Other
Callosome v0.54 ASXL3 Zornitza Stark Marked gene: ASXL3 as ready
Callosome v0.54 ASXL3 Zornitza Stark Gene: asxl3 has been classified as Green List (High Evidence).
Callosome v0.54 ASXL3 Zornitza Stark Phenotypes for gene: ASXL3 were changed from to Bainbridge-Ropers syndrome (OMIM # 615485)
Callosome v0.53 ASXL3 Zornitza Stark Publications for gene: ASXL3 were set to
Callosome v0.52 ASXL3 Zornitza Stark Mode of inheritance for gene: ASXL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.51 ASXL3 Zornitza Stark reviewed gene: ASXL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28100473, 27901041, 23383720; Phenotypes: Bainbridge-Ropers syndrome (OMIM # 615485); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.701 ASXL3 Zornitza Stark Marked gene: ASXL3 as ready
Mendeliome v0.701 ASXL3 Zornitza Stark Gene: asxl3 has been classified as Green List (High Evidence).
Autism v0.30 ASXL3 Zornitza Stark Marked gene: ASXL3 as ready
Autism v0.30 ASXL3 Zornitza Stark Gene: asxl3 has been classified as Green List (High Evidence).
Mendeliome v0.701 ASXL3 Zornitza Stark Phenotypes for gene: ASXL3 were changed from to Bainbridge-Ropers syndrome (OMIM # 615485)
Mendeliome v0.700 ASXL3 Zornitza Stark Publications for gene: ASXL3 were set to
Autism v0.30 ASXL3 Zornitza Stark Phenotypes for gene: ASXL3 were changed from to Bainbridge-Ropers syndrome (OMIM # 615485)
Mendeliome v0.699 ASXL3 Zornitza Stark Mode of inheritance for gene: ASXL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.30 ASXL3 Zornitza Stark Publications for gene: ASXL3 were set to 28100473; 27901041; 23383720
Mendeliome v0.698 ASXL3 Zornitza Stark reviewed gene: ASXL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28100473, 27901041, 23383720; Phenotypes: Bainbridge-Ropers syndrome (OMIM # 615485); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.29 ASXL3 Zornitza Stark Publications for gene: ASXL3 were set to
Autism v0.28 ASXL3 Zornitza Stark Mode of inheritance for gene: ASXL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.27 ASXL3 Zornitza Stark reviewed gene: ASXL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28100473, 27901041, 23383720; Phenotypes: Bainbridge-Ropers syndrome (OMIM # 615485); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.3 ASXL3 Zornitza Stark Phenotypes for gene: ASXL3 were changed from Bainbridge-Ropers syndrome (OMIM # 615485) to Bainbridge-Ropers syndrome (OMIM # 615485)
Angelman Rett like syndromes v0.3 ASXL3 Zornitza Stark Marked gene: ASXL3 as ready
Angelman Rett like syndromes v0.3 ASXL3 Zornitza Stark Gene: asxl3 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.3 ASXL3 Zornitza Stark Phenotypes for gene: ASXL3 were changed from to Bainbridge-Ropers syndrome (OMIM # 615485)
Angelman Rett like syndromes v0.2 ASXL3 Zornitza Stark Publications for gene: ASXL3 were set to
Angelman Rett like syndromes v0.1 ASXL3 Zornitza Stark Mode of inheritance for gene: ASXL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.0 ASXL3 Zornitza Stark reviewed gene: ASXL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28100473, 27901041, 23383720; Phenotypes: Bainbridge-Ropers syndrome (OMIM # 615485); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1520 ASXL3 Zornitza Stark Marked gene: ASXL3 as ready
Intellectual disability syndromic and non-syndromic v0.1520 ASXL3 Zornitza Stark Gene: asxl3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1520 ASXL3 Zornitza Stark Phenotypes for gene: ASXL3 were changed from to Bainbridge-Ropers syndrome (OMIM # 615485)
Intellectual disability syndromic and non-syndromic v0.1519 ASXL3 Zornitza Stark Publications for gene: ASXL3 were set to
Intellectual disability syndromic and non-syndromic v0.1518 ASXL3 Zornitza Stark Mode of inheritance for gene: ASXL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.698 RHOA Sue White Marked gene: RHOA as ready
Mendeliome v0.698 RHOA Sue White Gene: rhoa has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1517 ASXL3 Ain Roesley reviewed gene: ASXL3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28100473, 27901041, 23383720; Phenotypes: Bainbridge-Ropers syndrome (OMIM # 615485); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.698 RHOA Sue White Classified gene: RHOA as Green List (high evidence)
Mendeliome v0.698 RHOA Sue White Gene: rhoa has been classified as Green List (High Evidence).
Mendeliome v0.697 RHOA Sue White gene: RHOA was added
gene: RHOA was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: RHOA was set to Other
Publications for gene: RHOA were set to 31570889
Phenotypes for gene: RHOA were set to normal cognition; leukoencephalopathy; micro-ophthalmia; strabismus; linear hypopigmentation; malar hypoplasia; downslanting palpebral fissures; microstomia
Penetrance for gene: RHOA were set to Complete
Review for gene: RHOA was set to GREEN
gene: RHOA was marked as current diagnostic
Added comment: mosaic heterozygous missense variants cause linear hypopigmentation, brain MRI changes with normal cognition, ocular and acral changes
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v0.34 RHOA Zornitza Stark Marked gene: RHOA as ready
Anophthalmia_Microphthalmia_Coloboma v0.34 RHOA Zornitza Stark Gene: rhoa has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.34 RHOA Zornitza Stark Classified gene: RHOA as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.34 RHOA Zornitza Stark Gene: rhoa has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.33 RHOA Zornitza Stark Classified gene: RHOA as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.33 RHOA Zornitza Stark Gene: rhoa has been classified as Green List (High Evidence).
Genetic Epilepsy v0.156 AFF3 Zornitza Stark Marked gene: AFF3 as ready
Genetic Epilepsy v0.156 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.156 AFF3 Zornitza Stark Classified gene: AFF3 as Green List (high evidence)
Genetic Epilepsy v0.156 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.155 AFF3 Zornitza Stark gene: AFF3 was added
gene: AFF3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: AFF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AFF3 were set to Intellectual disability; seizures; hypertrichosis
Review for gene: AFF3 was set to GREEN
Added comment: Voisin et al, 2019 (preprint) - New AD disorder associated with de novo missense variants in AFF3. 10 unrelated affected individuals with de novo missense variants. 10/11 had epilepsy. Functional data including animal model.
Sources: Expert list
Genetic Epilepsy v0.154 ADAT3 Zornitza Stark Marked gene: ADAT3 as ready
Genetic Epilepsy v0.154 ADAT3 Zornitza Stark Gene: adat3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.154 ADAT3 Zornitza Stark Classified gene: ADAT3 as Amber List (moderate evidence)
Genetic Epilepsy v0.154 ADAT3 Zornitza Stark Gene: adat3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.153 ADAT3 Zornitza Stark gene: ADAT3 was added
gene: ADAT3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: ADAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAT3 were set to 26842963; 23620220; 30296593
Phenotypes for gene: ADAT3 were set to Mental retardation autosomal recessive 36, 615286
Review for gene: ADAT3 was set to AMBER
Added comment: ID gene, some individuals reported as having seizures but phenotype yet to be fully elucidated. Note founder variant.
Sources: Expert list
Genetic Epilepsy v0.152 AARS2 Zornitza Stark Marked gene: AARS2 as ready
Genetic Epilepsy v0.152 AARS2 Zornitza Stark Gene: aars2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.152 AARS2 Zornitza Stark Phenotypes for gene: AARS2 were changed from to Combined oxidative phosphorylation deficiency 8, 614096; Leukoencephalopathy progressive with ovarian failure, 615889
Genetic Epilepsy v0.151 AARS2 Zornitza Stark Publications for gene: AARS2 were set to
Genetic Epilepsy v0.150 AARS2 Zornitza Stark Mode of inheritance for gene: AARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.149 AARS2 Zornitza Stark Classified gene: AARS2 as Red List (low evidence)
Genetic Epilepsy v0.149 AARS2 Zornitza Stark Gene: aars2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.148 AARS2 Zornitza Stark reviewed gene: AARS2: Rating: RED; Mode of pathogenicity: None; Publications: 21549344, 25817015; Phenotypes: Combined oxidative phosphorylation deficiency 8, 614096, Leukoencephalopathy progressive with ovarian failure, 615889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.5 TNFRSF1A Zornitza Stark Marked gene: TNFRSF1A as ready
Autoinflammatory Disorders v0.5 TNFRSF1A Zornitza Stark Gene: tnfrsf1a has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.5 TNFRSF1A Zornitza Stark Phenotypes for gene: TNFRSF1A were changed from Periodic fever, familial, MIM# 142680 to Periodic fever, familial, MIM# 142680
Autoinflammatory Disorders v0.5 TNFRSF1A Zornitza Stark Phenotypes for gene: TNFRSF1A were changed from to Periodic fever, familial, MIM# 142680
Autoinflammatory Disorders v0.4 TNFRSF1A Zornitza Stark Publications for gene: TNFRSF1A were set to
Autoinflammatory Disorders v0.3 TNFRSF1A Zornitza Stark Mode of inheritance for gene: TNFRSF1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.2 TNFRSF1A Zornitza Stark Mode of inheritance for gene: TNFRSF1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.1 TNFRSF1A Zornitza Stark reviewed gene: TNFRSF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 10199409; Phenotypes: Periodic fever, familial, MIM# 142680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.696 TNFRSF1A Zornitza Stark Marked gene: TNFRSF1A as ready
Mendeliome v0.696 TNFRSF1A Zornitza Stark Gene: tnfrsf1a has been classified as Green List (High Evidence).
Mendeliome v0.696 TNFRSF1A Zornitza Stark Phenotypes for gene: TNFRSF1A were changed from to Periodic fever, familial, MIM# 142680
Mendeliome v0.695 TNFRSF1A Zornitza Stark Publications for gene: TNFRSF1A were set to
Mendeliome v0.694 TNFRSF1A Zornitza Stark Mode of inheritance for gene: TNFRSF1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.693 TNFRSF1A Zornitza Stark reviewed gene: TNFRSF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 10199409; Phenotypes: Periodic fever, familial, MIM# 142680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.5 TNFRSF1A Zornitza Stark Marked gene: TNFRSF1A as ready
Vasculitis v0.5 TNFRSF1A Zornitza Stark Gene: tnfrsf1a has been classified as Green List (High Evidence).
Vasculitis v0.5 TNFRSF1A Zornitza Stark Phenotypes for gene: TNFRSF1A were changed from to Periodic fever, familial, MIM# 142680
Vasculitis v0.4 TNFRSF1A Zornitza Stark Publications for gene: TNFRSF1A were set to
Vasculitis v0.3 TNFRSF1A Zornitza Stark Mode of inheritance for gene: TNFRSF1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.2 TNFRSF1A Belinda Chong reviewed gene: TNFRSF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10199409; Phenotypes: Periodic fever, familial; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Anophthalmia_Microphthalmia_Coloboma v0.32 RHOA Sue White gene: RHOA was added
gene: RHOA was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Literature
Mode of inheritance for gene: RHOA was set to Other
Publications for gene: RHOA were set to 31570889
Phenotypes for gene: RHOA were set to normal cognition; leukoencephalopathy; micro-ophthalmia; strabismus; linear hypopigmentation; malar hypoplasia; downslanting palpebral fissures; microstomia
Penetrance for gene: RHOA were set to Complete
Review for gene: RHOA was set to GREEN
gene: RHOA was marked as current diagnostic
Added comment: mosaic heterozygous variants causing dysmorphism, brain MRI changes, normal cognition, eye and acral anomalies
Sources: Literature
Dilated Cardiomyopathy v0.4 LMNA Zornitza Stark Marked gene: LMNA as ready
Dilated Cardiomyopathy v0.4 LMNA Zornitza Stark Added comment: Comment when marking as ready: Heterozygous variants linked to DCM.
Dilated Cardiomyopathy v0.4 LMNA Zornitza Stark Gene: lmna has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.4 LMNA Zornitza Stark Mode of pathogenicity for gene: LMNA was changed from to None
Dilated Cardiomyopathy v0.3 LMNA Zornitza Stark Phenotypes for gene: LMNA were changed from to Dilated cardiomyopathy
Dilated Cardiomyopathy v0.2 LMNA Zornitza Stark Mode of inheritance for gene: LMNA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.1 LMNA Zornitza Stark Mode of inheritance for gene: LMNA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.0 LMNA Teresa Zhao reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 17377071; Phenotypes: Dilated cardiomyopathy, Charcot-Marie-Tooth disease, type 2B1, Emery-Dreifuss muscular dystrophy 2, Emery-Dreifuss muscular dystrophy 3, Heart-hand syndrome, Slovenian type, Hutchinson-Gilford, Lipodystrophy, familial partial, type 2, Malouf syndrome, Mandibuloacral dysplasia, congenital muscular dystrophy, lethal restrictive dermopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.693 SEPT9 Zornitza Stark Marked gene: SEPT9 as ready
Mendeliome v0.693 SEPT9 Zornitza Stark Gene: sept9 has been classified as Green List (High Evidence).
Mendeliome v0.693 SEPT9 Zornitza Stark Phenotypes for gene: SEPT9 were changed from to Amyotrophy, hereditary neuralgic, MIM# 162100
Mendeliome v0.692 SEPT9 Zornitza Stark reviewed gene: SEPT9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyotrophy, hereditary neuralgic, MIM# 162100; Mode of inheritance: None
Mendeliome v0.692 PUS10 Zornitza Stark Marked gene: PUS10 as ready
Mendeliome v0.692 PUS10 Zornitza Stark Added comment: Comment when marking as ready: Agree, no evidence for Mendelian gene-disease association.
Mendeliome v0.692 PUS10 Zornitza Stark Gene: pus10 has been classified as Red List (Low Evidence).
Mendeliome v0.692 PUS10 Zornitza Stark Classified gene: PUS10 as Red List (low evidence)
Mendeliome v0.692 PUS10 Zornitza Stark Gene: pus10 has been classified as Red List (Low Evidence).
Mendeliome v0.691 PUS10 Crystle Lee reviewed gene: PUS10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Autism v0.27 WDFY3 Zornitza Stark Marked gene: WDFY3 as ready
Autism v0.27 WDFY3 Zornitza Stark Gene: wdfy3 has been classified as Green List (High Evidence).
Autism v0.27 WDFY3 Zornitza Stark Phenotypes for gene: WDFY3 were changed from to Microcephaly 18, primary, autosomal dominant, MIM#617520
Autism v0.26 WDFY3 Zornitza Stark Publications for gene: WDFY3 were set to 31327001; 27008544
Autism v0.26 WDFY3 Zornitza Stark Mode of inheritance for gene: WDFY3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.25 WDFY3 Zornitza Stark Publications for gene: WDFY3 were set to
Autism v0.25 WDFY3 Zornitza Stark Mode of inheritance for gene: WDFY3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1517 WDFY3 Zornitza Stark Marked gene: WDFY3 as ready
Intellectual disability syndromic and non-syndromic v0.1517 WDFY3 Zornitza Stark Gene: wdfy3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1517 WDFY3 Zornitza Stark Phenotypes for gene: WDFY3 were changed from to Microcephaly 18, primary, autosomal dominant, MIM#617520
Intellectual disability syndromic and non-syndromic v0.1516 WDFY3 Zornitza Stark Publications for gene: WDFY3 were set to
Intellectual disability syndromic and non-syndromic v0.1515 WDFY3 Zornitza Stark Mode of inheritance for gene: WDFY3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.10 DNMT3A Zornitza Stark Marked gene: DNMT3A as ready
Macrocephaly_Megalencephaly v0.10 DNMT3A Zornitza Stark Gene: dnmt3a has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.10 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from to Tatton-Brown-Rahman syndrome, OMIM# 615879
Macrocephaly_Megalencephaly v0.9 DNMT3A Zornitza Stark Publications for gene: DNMT3A were set to
Macrocephaly_Megalencephaly v0.8 DNMT3A Zornitza Stark Mode of inheritance for gene: DNMT3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.7 DNMT3A Zornitza Stark reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24614070; Phenotypes: Tatton-Brown-Rahman syndrome, OMIM# 615879; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.7 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from Tatton-Brown-Rahman syndrome, OMIM# 615879 to Tatton-Brown-Rahman syndrome, OMIM# 615879
Overgrowth v0.6 DNMT3A Zornitza Stark Marked gene: DNMT3A as ready
Overgrowth v0.6 DNMT3A Zornitza Stark Gene: dnmt3a has been classified as Green List (High Evidence).
Overgrowth v0.6 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from to Tatton-Brown-Rahman syndrome, OMIM# 615879
Overgrowth v0.6 DNMT3A Zornitza Stark Mode of inheritance for gene: DNMT3A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.5 DNMT3A Zornitza Stark Publications for gene: DNMT3A were set to
Overgrowth v0.5 DNMT3A Zornitza Stark Mode of inheritance for gene: DNMT3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.4 DNMT3A Zornitza Stark reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24614070; Phenotypes: Tatton-Brown-Rahman syndrome, OMIM# 615879; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.691 DNMT3A Zornitza Stark Marked gene: DNMT3A as ready
Mendeliome v0.691 DNMT3A Zornitza Stark Gene: dnmt3a has been classified as Green List (High Evidence).
Mendeliome v0.691 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from Tatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephalyTatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephaly to Tatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephaly
Mendeliome v0.690 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from Tatton-Brown-Rahman SYNDROME, OMIM# 615879; primordial dwarfism with intellectual disability and microcephalyTatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephaly to Tatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephalyTatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephaly
Mendeliome v0.689 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from to Tatton-Brown-Rahman SYNDROME, OMIM# 615879; primordial dwarfism with intellectual disability and microcephalyTatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephaly
Mendeliome v0.688 DNMT3A Zornitza Stark Publications for gene: DNMT3A were set to
Mendeliome v0.687 DNMT3A Zornitza Stark Mode of pathogenicity for gene: DNMT3A was changed from to Other
Mendeliome v0.686 DNMT3A Zornitza Stark Mode of inheritance for gene: DNMT3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.685 DNMT3A Zornitza Stark reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30478443, 24614070; Phenotypes: Tatton-Brown-Rahman SYNDROME, OMIM# 615879, primordial dwarfism with intellectual disability and microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1514 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from Gatton-Brown-Rahman syndrome, MIM#615879; primordial dwarfism with intellectual disability and microcephaly to Tatton-Brown-Rahman syndrome, MIM#615879; primordial dwarfism with intellectual disability and microcephaly
Intellectual disability syndromic and non-syndromic v0.1513 DNMT3A Zornitza Stark Marked gene: DNMT3A as ready
Intellectual disability syndromic and non-syndromic v0.1513 DNMT3A Zornitza Stark Gene: dnmt3a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1513 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from to Gatton-Brown-Rahman syndrome, MIM#615879; primordial dwarfism with intellectual disability and microcephaly
Intellectual disability syndromic and non-syndromic v0.1512 DNMT3A Zornitza Stark Publications for gene: DNMT3A were set to
Intellectual disability syndromic and non-syndromic v0.1511 DNMT3A Zornitza Stark Mode of inheritance for gene: DNMT3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1510 DNMT3A Zornitza Stark reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30478443, 24614070; Phenotypes: TATTON-BROWN-RAHMAN SYNDROME, OMIM# 615879, primordial dwarfism with intellectual disability and microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.65 DNMT3A Zornitza Stark Marked gene: DNMT3A as ready
Microcephaly v0.65 DNMT3A Zornitza Stark Added comment: Comment when marking as ready: Three individuals reported, two with the same de novo missense variant. Postulated to be GOF as opposed to LOF variants in this gene which cause an overgrowth syndrome. Animal model supports pathogenicity.
Microcephaly v0.65 DNMT3A Zornitza Stark Gene: dnmt3a has been classified as Green List (High Evidence).
Microcephaly v0.65 DNMT3A Zornitza Stark Mode of pathogenicity for gene: DNMT3A was changed from None to Other
Microcephaly v0.64 DNMT3A Zornitza Stark Classified gene: DNMT3A as Green List (high evidence)
Microcephaly v0.64 DNMT3A Zornitza Stark Gene: dnmt3a has been classified as Green List (High Evidence).
Skeletal dysplasia v0.3 DNMT3A Sue White reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24614070, 30478443; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.60 DNMT3A Sue White gene: DNMT3A was added
gene: DNMT3A was added to Microcephaly_VCGS. Sources: Literature
Mode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNMT3A were set to 30478443
Phenotypes for gene: DNMT3A were set to intellectual disability; microcephaly; short stature
Penetrance for gene: DNMT3A were set to Complete
Review for gene: DNMT3A was set to GREEN
gene: DNMT3A was marked as current diagnostic
Added comment: gain of function heterozygous variants cause an microcephaly-primordial short stature-type phenotype with intellectual disability
Sources: Literature
Microcephaly v0.60 DNMT3A Sue White gene: DNMT3A was added
gene: DNMT3A was added to Microcephaly_VCGS. Sources: Literature
Mode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNMT3A were set to 30478443
Phenotypes for gene: DNMT3A were set to intellectual disability; microcephaly; short stature
Penetrance for gene: DNMT3A were set to Complete
gene: DNMT3A was marked as current diagnostic
Added comment: gain of function heterozygous variants cause an microcephaly-primordial short stature-type phenotype with intellectual disability
Sources: Literature
Incidentalome v0.4 TRIM28 Zornitza Stark Marked gene: TRIM28 as ready
Incidentalome v0.4 TRIM28 Zornitza Stark Gene: trim28 has been classified as Green List (High Evidence).
Incidentalome v0.4 TRIM28 Zornitza Stark Classified gene: TRIM28 as Green List (high evidence)
Incidentalome v0.4 TRIM28 Zornitza Stark Gene: trim28 has been classified as Green List (High Evidence).
Incidentalome v0.3 TRIM28 Zornitza Stark gene: TRIM28 was added
gene: TRIM28 was added to Incidentalome_VCGS. Sources: Literature
Mode of inheritance for gene: TRIM28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIM28 were set to 30694527
Phenotypes for gene: TRIM28 were set to Wilm's tumour
Review for gene: TRIM28 was set to GREEN
Added comment: Eleven individuals with germline variants identified; plus one somatic. Exome sequencing on eight tumor DNA samples from six individuals showed loss-of-heterozygosity (LOH) of the TRIM28-locus by mitotic recombination in seven tumors, suggesting that TRIM28 functions as a tumor suppressor gene in Wilms tumor development.
Sources: Literature
Mendeliome v0.685 TRIM28 Zornitza Stark Marked gene: TRIM28 as ready
Mendeliome v0.685 TRIM28 Zornitza Stark Gene: trim28 has been classified as Green List (High Evidence).
Mendeliome v0.685 TRIM28 Zornitza Stark Classified gene: TRIM28 as Green List (high evidence)
Mendeliome v0.685 TRIM28 Zornitza Stark Gene: trim28 has been classified as Green List (High Evidence).
Mendeliome v0.684 TRIM28 Zornitza Stark gene: TRIM28 was added
gene: TRIM28 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: TRIM28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIM28 were set to 30694527
Phenotypes for gene: TRIM28 were set to Wilm's tumour
Review for gene: TRIM28 was set to GREEN
Added comment: Eleven individuals with germline variants identified; plus one somatic. Exome sequencing on eight tumor DNA samples from six individuals showed loss-of-heterozygosity (LOH) of the TRIM28-locus by mitotic recombination in seven tumors, suggesting that TRIM28 functions as a tumor suppressor gene in Wilms tumor development.
Sources: Literature
Mendeliome v0.683 YY1AP1 Zornitza Stark Marked gene: YY1AP1 as ready
Mendeliome v0.683 YY1AP1 Zornitza Stark Gene: yy1ap1 has been classified as Green List (High Evidence).
Mendeliome v0.683 YY1AP1 Zornitza Stark Phenotypes for gene: YY1AP1 were changed from to Grange syndrome, MIM# 602531; stenosis/occlusion of multiple arteries
Mendeliome v0.682 YY1AP1 Zornitza Stark Mode of inheritance for gene: YY1AP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.681 YY1AP1 Zornitza Stark reviewed gene: YY1AP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Grange syndrome, MIM# 602531, stenosis/occlusion of multiple arteries; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.681 CBWD1 Zornitza Stark Marked gene: CBWD1 as ready
Mendeliome v0.681 CBWD1 Zornitza Stark Gene: cbwd1 has been classified as Red List (Low Evidence).
Mendeliome v0.681 CBWD1 Zornitza Stark gene: CBWD1 was added
gene: CBWD1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: CBWD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBWD1 were set to 31862704
Phenotypes for gene: CBWD1 were set to CAKUT
Review for gene: CBWD1 was set to RED
Added comment: A pair of siblings with homozygous deletion in this gene reported; functional data including animal model.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.21 CBWD1 Zornitza Stark Marked gene: CBWD1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.21 CBWD1 Zornitza Stark Gene: cbwd1 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.21 CBWD1 Zornitza Stark gene: CBWD1 was added
gene: CBWD1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Literature
Mode of inheritance for gene: CBWD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBWD1 were set to 31862704
Phenotypes for gene: CBWD1 were set to CAKUT
Review for gene: CBWD1 was set to RED
Added comment: A pair of siblings with homozygous deletion in this gene reported; functional data including animal model.
Sources: Literature
Disorders of immune dysregulation v0.8 DEF6 Zornitza Stark Marked gene: DEF6 as ready
Disorders of immune dysregulation v0.8 DEF6 Zornitza Stark Gene: def6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.680 DEF6 Zornitza Stark Marked gene: DEF6 as ready
Mendeliome v0.680 DEF6 Zornitza Stark Gene: def6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.680 DEF6 Zornitza Stark Classified gene: DEF6 as Amber List (moderate evidence)
Mendeliome v0.680 DEF6 Zornitza Stark Gene: def6 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.8 DEF6 Zornitza Stark Classified gene: DEF6 as Amber List (moderate evidence)
Disorders of immune dysregulation v0.8 DEF6 Zornitza Stark Gene: def6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.679 DEF6 Zornitza Stark gene: DEF6 was added
gene: DEF6 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: DEF6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DEF6 were set to 31308374
Phenotypes for gene: DEF6 were set to Systemic autoimmunity
Review for gene: DEF6 was set to AMBER
Added comment: Three individuals from two families, some functional data.
Sources: Literature
Disorders of immune dysregulation v0.7 DEF6 Zornitza Stark Classified gene: DEF6 as Amber List (moderate evidence)
Disorders of immune dysregulation v0.7 DEF6 Zornitza Stark Gene: def6 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.6 DEF6 Zornitza Stark gene: DEF6 was added
gene: DEF6 was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: DEF6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DEF6 were set to 31308374
Phenotypes for gene: DEF6 were set to Systemic autoimmunity
Review for gene: DEF6 was set to AMBER
Added comment: Three individuals from two unrelated families, some functional data.
Sources: Literature
Vasculitis v0.2 TMEM173 Zornitza Stark Marked gene: TMEM173 as ready
Vasculitis v0.2 TMEM173 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name: STING1
Vasculitis v0.2 TMEM173 Zornitza Stark Gene: tmem173 has been classified as Green List (High Evidence).
Vasculitis v0.2 TMEM173 Zornitza Stark Phenotypes for gene: TMEM173 were changed from to STING-associated vasculopathy, infantile-onset, MIM# 615934
Vasculitis v0.1 TMEM173 Zornitza Stark Mode of inheritance for gene: TMEM173 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.0 TMEM173 Zornitza Stark reviewed gene: TMEM173: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: STING-associated vasculopathy, infantile-onset, MIM# 615934; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.678 SLC2A8 Zornitza Stark Marked gene: SLC2A8 as ready
Mendeliome v0.678 SLC2A8 Zornitza Stark Added comment: Comment when marking as ready: Cannot find evidence for Mendelian gene-disease association.
Mendeliome v0.678 SLC2A8 Zornitza Stark Gene: slc2a8 has been classified as Red List (Low Evidence).
Mendeliome v0.678 SLC2A8 Zornitza Stark Classified gene: SLC2A8 as Red List (low evidence)
Mendeliome v0.678 SLC2A8 Zornitza Stark Gene: slc2a8 has been classified as Red List (Low Evidence).
Autism v0.24 SETD5 Zornitza Stark Marked gene: SETD5 as ready
Autism v0.24 SETD5 Zornitza Stark Added comment: Comment when marking as ready: PMID: 29484850: Review of all literature reporting SETD5 (table 1). Out of 42 patients described in these papers, 71.4% have motor impairment/delay, 69.0% speech impairment/delay, 23.8% eplilepsy/seizures, 38% congenital heart defects, 95.2% facial dysmorphism, 21.4% hand stereotypies/ritualised behaviour, 19% impaired vision, 42.8% muscle hypotonia and 28.6% polydactyly.
Autism v0.24 SETD5 Zornitza Stark Gene: setd5 has been classified as Green List (High Evidence).
Autism v0.24 SETD5 Zornitza Stark Phenotypes for gene: SETD5 were changed from to Intellectual disability, autosomal dominant 23 (MIM # 615761)
Autism v0.23 SETD5 Zornitza Stark Publications for gene: SETD5 were set to
Autism v0.22 SETD5 Zornitza Stark Mode of inheritance for gene: SETD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v0.3 SETD5 Zornitza Stark Marked gene: SETD5 as ready
Hypertrichosis syndromes v0.3 SETD5 Zornitza Stark Added comment: Comment when marking as ready: PMID: 29484850: Review of all literature reporting SETD5 (table 1). Out of 42 patients described in these papers, 71.4% have motor impairment/delay, 69.0% speech impairment/delay, 23.8% eplilepsy/seizures, 38% congenital heart defects, 95.2% facial dysmorphism, 21.4% hand stereotypies/ritualised behaviour, 19% impaired vision, 42.8% muscle hypotonia and 28.6% polydactyly.
Hypertrichosis syndromes v0.3 SETD5 Zornitza Stark Gene: setd5 has been classified as Green List (High Evidence).
Hypertrichosis syndromes v0.3 SETD5 Zornitza Stark Phenotypes for gene: SETD5 were changed from to Intellectual disability, autosomal dominant 23 (MIM # 615761)
Hypertrichosis syndromes v0.2 SETD5 Zornitza Stark Publications for gene: SETD5 were set to
Hypertrichosis syndromes v0.1 SETD5 Zornitza Stark Mode of inheritance for gene: SETD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.677 SETD5 Zornitza Stark Marked gene: SETD5 as ready
Mendeliome v0.677 SETD5 Zornitza Stark Added comment: Comment when marking as ready: PMID: 29484850: Review of all literature reporting SETD5 (table 1). Out of 42 patients described in these papers, 71.4% have motor impairment/delay, 69.0% speech impairment/delay, 23.8% eplilepsy/seizures, 38% congenital heart defects, 95.2% facial dysmorphism, 21.4% hand stereotypies/ritualised behaviour, 19% impaired vision, 42.8% muscle hypotonia and 28.6% polydactyly.
Mendeliome v0.677 SETD5 Zornitza Stark Gene: setd5 has been classified as Green List (High Evidence).
Mendeliome v0.677 SETD5 Zornitza Stark Phenotypes for gene: SETD5 were changed from to Intellectual disability, autosomal dominant 23 (MIM # 615761)
Mendeliome v0.676 SETD5 Zornitza Stark Publications for gene: SETD5 were set to
Mendeliome v0.675 SETD5 Zornitza Stark Mode of inheritance for gene: SETD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.148 SETD5 Zornitza Stark Marked gene: SETD5 as ready
Genetic Epilepsy v0.148 SETD5 Zornitza Stark Added comment: Comment when marking as ready: PMID: 29484850: Review of all literature reporting SETD5 (table 1). Out of 42 patients described in these papers, 71.4% have motor impairment/delay, 69.0% speech impairment/delay, 23.8% eplilepsy/seizures, 38% congenital heart defects, 95.2% facial dysmorphism, 21.4% hand stereotypies/ritualised behaviour, 19% impaired vision, 42.8% muscle hypotonia and 28.6% polydactyly.
Genetic Epilepsy v0.148 SETD5 Zornitza Stark Gene: setd5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.148 SETD5 Zornitza Stark Phenotypes for gene: SETD5 were changed from to Intellectual disability, autosomal dominant 23 (MIM # 615761)
Genetic Epilepsy v0.147 SETD5 Zornitza Stark Publications for gene: SETD5 were set to
Genetic Epilepsy v0.146 SETD5 Zornitza Stark Mode of inheritance for gene: SETD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1510 SETD5 Zornitza Stark Marked gene: SETD5 as ready
Intellectual disability syndromic and non-syndromic v0.1510 SETD5 Zornitza Stark Gene: setd5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1510 SETD5 Zornitza Stark Phenotypes for gene: SETD5 were changed from to Intellectual disability, autosomal dominant 23 (MIM # 615761)
Intellectual disability syndromic and non-syndromic v0.1509 SETD5 Zornitza Stark Publications for gene: SETD5 were set to
Intellectual disability syndromic and non-syndromic v0.1508 SETD5 Zornitza Stark Mode of inheritance for gene: SETD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1507 SETD5 Ain Roesley reviewed gene: SETD5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29484850; Phenotypes: Intellectual disability, autosomal dominant 23 (MIM # 615761); Mode of inheritance: None
Renal Macrocystic Disease v0.17 VHL Zornitza Stark Marked gene: VHL as ready
Renal Macrocystic Disease v0.17 VHL Zornitza Stark Gene: vhl has been classified as Green List (High Evidence).
Renal Macrocystic Disease v0.17 VHL Zornitza Stark Classified gene: VHL as Green List (high evidence)
Renal Macrocystic Disease v0.17 VHL Zornitza Stark Gene: vhl has been classified as Green List (High Evidence).
Renal Macrocystic Disease v0.16 VHL Zornitza Stark gene: VHL was added
gene: VHL was added to Renal macrocystic disease_KidGen_VCGS. Sources: Expert list
Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VHL were set to von Hippel-Lindau syndrome, MIM# 193300
Review for gene: VHL was set to GREEN
Added comment: Multiple renal cysts are part of the phenotype.
Sources: Expert list
Mendeliome v0.674 ACTG2 Zornitza Stark Marked gene: ACTG2 as ready
Mendeliome v0.674 ACTG2 Zornitza Stark Gene: actg2 has been classified as Green List (High Evidence).
Mendeliome v0.674 ACTG2 Zornitza Stark Phenotypes for gene: ACTG2 were changed from to Visceral myopathy, MIM#155310
Mendeliome v0.673 ACTG2 Zornitza Stark Mode of inheritance for gene: ACTG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.672 ACTG2 Zornitza Stark reviewed gene: ACTG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Visceral myopathy, MIM#155310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.36 ACTG2 Zornitza Stark Marked gene: ACTG2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.36 ACTG2 Zornitza Stark Gene: actg2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.36 ACTG2 Zornitza Stark Classified gene: ACTG2 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.36 ACTG2 Zornitza Stark Gene: actg2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.35 ACTG2 Zornitza Stark gene: ACTG2 was added
gene: ACTG2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list
Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTG2 were set to Visceral myopathy, MIM# 155310
Review for gene: ACTG2 was set to GREEN
Added comment: Renal manifestations: megacystis, hydronephrosis.
Sources: Expert list
Mendeliome v0.672 C19orf70 Zornitza Stark Marked gene: C19orf70 as ready
Mendeliome v0.672 C19orf70 Zornitza Stark Gene: c19orf70 has been classified as Green List (High Evidence).
Mendeliome v0.672 C19orf70 Zornitza Stark Classified gene: C19orf70 as Green List (high evidence)
Mendeliome v0.672 C19orf70 Zornitza Stark Gene: c19orf70 has been classified as Green List (High Evidence).
Mendeliome v0.671 C19orf70 Zornitza Stark gene: C19orf70 was added
gene: C19orf70 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: C19orf70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C19orf70 were set to 29618761; 27623147; 27485409
Phenotypes for gene: C19orf70 were set to Combined oxidative phosphorylation deficiency 37, MIM# 618329
Review for gene: C19orf70 was set to GREEN
Added comment: Three unrelated families reported. HGNC approved name MICOS13.
Sources: Expert list
Mitochondrial disease v0.36 C19orf70 Zornitza Stark Marked gene: C19orf70 as ready
Mitochondrial disease v0.36 C19orf70 Zornitza Stark Gene: c19orf70 has been classified as Green List (High Evidence).
Mitochondrial disease v0.36 C19orf70 Zornitza Stark Classified gene: C19orf70 as Green List (high evidence)
Mitochondrial disease v0.36 C19orf70 Zornitza Stark Gene: c19orf70 has been classified as Green List (High Evidence).
Mitochondrial disease v0.35 C19orf70 Zornitza Stark gene: C19orf70 was added
gene: C19orf70 was added to Mitochondrial_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: C19orf70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C19orf70 were set to 29618761; 27623147; 27485409
Phenotypes for gene: C19orf70 were set to Combined oxidative phosphorylation deficiency 37, MIM# 618329
Review for gene: C19orf70 was set to GREEN
Added comment: Three unrelated families reported. HGNC approved name MICOS13.
Sources: Expert list
Mendeliome v0.670 MIPEP Zornitza Stark Marked gene: MIPEP as ready
Mendeliome v0.670 MIPEP Zornitza Stark Gene: mipep has been classified as Green List (High Evidence).
Mitochondrial disease v0.34 MIPEP Zornitza Stark Marked gene: MIPEP as ready
Mitochondrial disease v0.34 MIPEP Zornitza Stark Gene: mipep has been classified as Green List (High Evidence).
Mendeliome v0.670 MIPEP Zornitza Stark Classified gene: MIPEP as Green List (high evidence)
Mendeliome v0.670 MIPEP Zornitza Stark Gene: mipep has been classified as Green List (High Evidence).
Mendeliome v0.669 MIPEP Zornitza Stark gene: MIPEP was added
gene: MIPEP was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: MIPEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIPEP were set to 27799064
Phenotypes for gene: MIPEP were set to Combined oxidative phosphorylation deficiency 31, MIM# 617228
Review for gene: MIPEP was set to GREEN
Added comment: Four unrelated children reported.
Sources: Expert list
Mitochondrial disease v0.34 MIPEP Zornitza Stark Classified gene: MIPEP as Green List (high evidence)
Mitochondrial disease v0.34 MIPEP Zornitza Stark Gene: mipep has been classified as Green List (High Evidence).
Mitochondrial disease v0.33 MIPEP Zornitza Stark gene: MIPEP was added
gene: MIPEP was added to Mitochondrial_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: MIPEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIPEP were set to 27799064
Phenotypes for gene: MIPEP were set to Combined oxidative phosphorylation deficiency 31, MIM# 617228
Review for gene: MIPEP was set to GREEN
Added comment: Four unrelated children reported.
Sources: Expert list
Mendeliome v0.668 MRPS14 Zornitza Stark gene: MRPS14 was added
gene: MRPS14 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: MRPS14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS14 were set to 30358850
Phenotypes for gene: MRPS14 were set to Combined oxidative phosphorylation deficiency 38, MIM# 618378
Review for gene: MRPS14 was set to RED
Added comment: Single individual reported, functional data.
Sources: Expert list
Mitochondrial disease v0.32 MRPS14 Zornitza Stark Marked gene: MRPS14 as ready
Mitochondrial disease v0.32 MRPS14 Zornitza Stark Gene: mrps14 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.32 MRPS14 Zornitza Stark gene: MRPS14 was added
gene: MRPS14 was added to Mitochondrial_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: MRPS14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS14 were set to 30358850
Phenotypes for gene: MRPS14 were set to Combined oxidative phosphorylation deficiency 38, MIM# 618378
Review for gene: MRPS14 was set to RED
Added comment: Single individual reported, functional data.
Sources: Expert list
Mendeliome v0.667 PLEKHG2 Zornitza Stark Marked gene: PLEKHG2 as ready
Mendeliome v0.667 PLEKHG2 Zornitza Stark Gene: plekhg2 has been classified as Red List (Low Evidence).
Mendeliome v0.667 PLEKHG2 Zornitza Stark gene: PLEKHG2 was added
gene: PLEKHG2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: PLEKHG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLEKHG2 were set to 26573021
Phenotypes for gene: PLEKHG2 were set to Leukodystrophy and acquired microcephaly with or without dystonia, MIM# 616763
Review for gene: PLEKHG2 was set to RED
Added comment: Five individuals from two unrelated families reported, same homozygous missense variant.
Sources: Expert list
Optic Atrophy v0.4 UFM1 Zornitza Stark Marked gene: UFM1 as ready
Optic Atrophy v0.4 UFM1 Zornitza Stark Gene: ufm1 has been classified as Green List (High Evidence).
Optic Atrophy v0.4 UFM1 Zornitza Stark Phenotypes for gene: UFM1 were changed from to Leukodystrophy, hypomyelinating, 14, MIM# 617899
Optic Atrophy v0.3 UFM1 Zornitza Stark Publications for gene: UFM1 were set to
Optic Atrophy v0.2 UFM1 Zornitza Stark Mode of inheritance for gene: UFM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.1 UFM1 Zornitza Stark reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28931644, 29868776; Phenotypes: Leukodystrophy, hypomyelinating, 14, MIM# 617899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.666 UFM1 Zornitza Stark Marked gene: UFM1 as ready
Mendeliome v0.666 UFM1 Zornitza Stark Gene: ufm1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.4 UFM1 Zornitza Stark reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28931644, 29868776; Phenotypes: Leukodystrophy, hypomyelinating, 14, MIM# 617899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.145 UFM1 Zornitza Stark Phenotypes for gene: UFM1 were changed from Leukodystrophy, hypomyelinating, 14, MIM# 617899 to Leukodystrophy, hypomyelinating, 14, MIM# 617899
Genetic Epilepsy v0.145 UFM1 Zornitza Stark Marked gene: UFM1 as ready
Genetic Epilepsy v0.145 UFM1 Zornitza Stark Gene: ufm1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.145 UFM1 Zornitza Stark Phenotypes for gene: UFM1 were changed from to Leukodystrophy, hypomyelinating, 14, MIM# 617899
Mendeliome v0.666 UFM1 Zornitza Stark Phenotypes for gene: UFM1 were changed from to Leukodystrophy, hypomyelinating, 14, MIM# 617899
Mendeliome v0.665 UFM1 Zornitza Stark Publications for gene: UFM1 were set to
Mendeliome v0.664 UFM1 Zornitza Stark Mode of inheritance for gene: UFM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.663 UFM1 Zornitza Stark reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28931644, 29868776; Phenotypes: Leukodystrophy, hypomyelinating, 14, MIM# 617899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.144 UFM1 Zornitza Stark Publications for gene: UFM1 were set to
Genetic Epilepsy v0.143 UFM1 Zornitza Stark Mode of inheritance for gene: UFM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.142 UFM1 Zornitza Stark reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28931644, 29868776; Phenotypes: Leukodystrophy, hypomyelinating, 14, MIM# 617899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.663 HIKESHI Zornitza Stark Marked gene: HIKESHI as ready
Mendeliome v0.663 HIKESHI Zornitza Stark Gene: hikeshi has been classified as Green List (High Evidence).
Mendeliome v0.663 HIKESHI Zornitza Stark Phenotypes for gene: HIKESHI were changed from to Leukodystrophy, hypomyelinating, 13, MIM# 616881
Mendeliome v0.662 HIKESHI Zornitza Stark Publications for gene: HIKESHI were set to
Mendeliome v0.661 HIKESHI Zornitza Stark Mode of inheritance for gene: HIKESHI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.660 HIKESHI Zornitza Stark reviewed gene: HIKESHI: Rating: GREEN; Mode of pathogenicity: None; Publications: 26545878; Phenotypes: Leukodystrophy, hypomyelinating, 13, MIM# 616881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.660 AIMP2 Zornitza Stark gene: AIMP2 was added
gene: AIMP2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: AIMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AIMP2 were set to 29215095
Phenotypes for gene: AIMP2 were set to Leukodystrophy, hypomyelinating, 17 618006
Review for gene: AIMP2 was set to RED
Added comment: Two apparently unrelated consanguineous families, however same homozygous variant identified in both. Affected individuals had early-onset multifocal seizures, spasticity, poor overall growth, and microcephaly (up to -10 SD). Brain imaging showed multiple abnormalities, including cerebral and cerebellar atrophy, thin corpus callosum, abnormal signals in the basal ganglia, and features suggesting hypo- or demyelination
Sources: Expert list
Mendeliome v0.659 TMEM63A Zornitza Stark Marked gene: TMEM63A as ready
Mendeliome v0.659 TMEM63A Zornitza Stark Gene: tmem63a has been classified as Green List (High Evidence).
Mendeliome v0.659 TMEM63A Zornitza Stark Classified gene: TMEM63A as Green List (high evidence)
Mendeliome v0.659 TMEM63A Zornitza Stark Gene: tmem63a has been classified as Green List (High Evidence).
Mendeliome v0.658 TMEM63A Zornitza Stark gene: TMEM63A was added
gene: TMEM63A was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: TMEM63A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM63A were set to 31587869
Phenotypes for gene: TMEM63A were set to Leukodystrophy, hypomyelinating, 19, transient infantile, MIM# 618688
Review for gene: TMEM63A was set to GREEN
Added comment: Four unrelated families reported; in three individuals, the variant was de novo, and inherited from a deceased parent in the fourth.
Sources: Expert list
Mendeliome v0.657 EPRS Zornitza Stark Phenotypes for gene: EPRS were changed from to Leukodystrophy, hypomyelinating, 15, MIM# 617951
Mendeliome v0.656 EPRS Zornitza Stark Publications for gene: EPRS were set to
Mendeliome v0.655 EPRS Zornitza Stark Mode of inheritance for gene: EPRS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.654 EPRS Zornitza Stark reviewed gene: EPRS: Rating: GREEN; Mode of pathogenicity: None; Publications: 29576217; Phenotypes: Leukodystrophy, hypomyelinating, 15, MIM# 617951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.654 FZD3 Zornitza Stark Marked gene: FZD3 as ready
Mendeliome v0.654 FZD3 Zornitza Stark Gene: fzd3 has been classified as Red List (Low Evidence).
Mendeliome v0.654 FZD3 Zornitza Stark Classified gene: FZD3 as Red List (low evidence)
Mendeliome v0.654 FZD3 Zornitza Stark Gene: fzd3 has been classified as Red List (Low Evidence).
Mendeliome v0.653 FZD3 Zornitza Stark reviewed gene: FZD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebellar and Pontocerebellar Hypoplasia v0.4 FZD3 Zornitza Stark Marked gene: FZD3 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.4 FZD3 Zornitza Stark Gene: fzd3 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.4 FZD3 Zornitza Stark Classified gene: FZD3 as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.4 FZD3 Zornitza Stark Gene: fzd3 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.3 FZD3 Zornitza Stark reviewed gene: FZD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1507 FZD3 Zornitza Stark Marked gene: FZD3 as ready
Intellectual disability syndromic and non-syndromic v0.1507 FZD3 Zornitza Stark Gene: fzd3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1507 FZD3 Zornitza Stark Classified gene: FZD3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1507 FZD3 Zornitza Stark Gene: fzd3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1506 FZD3 Zornitza Stark reviewed gene: FZD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.653 H3F3B Zornitza Stark Classified gene: H3F3B as Amber List (moderate evidence)
Mendeliome v0.653 H3F3B Zornitza Stark Gene: h3f3b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.652 H3F3B Zornitza Stark commented on gene: H3F3B: Elizabeth J Bhoj, H3F3A/B Consortium, Hakon H. Hakonarson.: Mutations In H3f3a And H3f3b Encoding Histone 3.3: Report Of 26 Patients With Neurodevelopmental And Congenital Manifestations. American Society of Human Genetics, Orlando, FL October 2017 Notes: Platform Presentation.
Regression v0.53 H3F3B Zornitza Stark Classified gene: H3F3B as Amber List (moderate evidence)
Regression v0.53 H3F3B Zornitza Stark Gene: h3f3b has been classified as Amber List (Moderate Evidence).
Regression v0.52 H3F3B Zornitza Stark commented on gene: H3F3B: Elizabeth J Bhoj, H3F3A/B Consortium, Hakon H. Hakonarson.: Mutations In H3f3a And H3f3b Encoding Histone 3.3: Report Of 26 Patients With Neurodevelopmental And Congenital Manifestations. American Society of Human Genetics, Orlando, FL October 2017 Notes: Platform Presentation.
Mendeliome v0.652 H3F3A Zornitza Stark Marked gene: H3F3A as ready
Mendeliome v0.652 H3F3A Zornitza Stark Gene: h3f3a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.652 H3F3A Zornitza Stark Classified gene: H3F3A as Amber List (moderate evidence)
Mendeliome v0.652 H3F3A Zornitza Stark Gene: h3f3a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.651 H3F3A Zornitza Stark commented on gene: H3F3A
Regression v0.52 H3F3A Zornitza Stark Marked gene: H3F3A as ready
Regression v0.52 H3F3A Zornitza Stark Gene: h3f3a has been classified as Amber List (Moderate Evidence).
Regression v0.52 H3F3A Zornitza Stark Classified gene: H3F3A as Amber List (moderate evidence)
Regression v0.52 H3F3A Zornitza Stark Gene: h3f3a has been classified as Amber List (Moderate Evidence).
Regression v0.51 H3F3A Zornitza Stark commented on gene: H3F3A
Intellectual disability syndromic and non-syndromic v0.1506 H3F3A Zornitza Stark Marked gene: H3F3A as ready
Intellectual disability syndromic and non-syndromic v0.1506 H3F3A Zornitza Stark Gene: h3f3a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1506 H3F3A Zornitza Stark Classified gene: H3F3A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1506 H3F3A Zornitza Stark Gene: h3f3a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1505 H3F3B Zornitza Stark Classified gene: H3F3B as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1505 H3F3B Zornitza Stark Gene: h3f3b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1504 H3F3B Zornitza Stark commented on gene: H3F3B: Elizabeth J Bhoj, H3F3A/B Consortium, Hakon H. Hakonarson.: Mutations In H3f3a And H3f3b Encoding Histone 3.3: Report Of 26 Patients With Neurodevelopmental And Congenital Manifestations. American Society of Human Genetics, Orlando, FL October 2017 Notes: Platform Presentation.
Intellectual disability syndromic and non-syndromic v0.1504 H3F3A Zornitza Stark commented on gene: H3F3A
Mendeliome v0.651 KAT5 Zornitza Stark Marked gene: KAT5 as ready
Mendeliome v0.651 KAT5 Zornitza Stark Added comment: Comment when marking as ready: Cannot find evidence for Mendelian gene-disease association.
Mendeliome v0.651 KAT5 Zornitza Stark Gene: kat5 has been classified as Red List (Low Evidence).
Mendeliome v0.651 KAT5 Zornitza Stark Classified gene: KAT5 as Red List (low evidence)
Mendeliome v0.651 KAT5 Zornitza Stark Gene: kat5 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.3 KAT5 Zornitza Stark Marked gene: KAT5 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.3 KAT5 Zornitza Stark Added comment: Comment when marking as ready: Cannot find evidence for Mendelian gene-disease association.
Cerebellar and Pontocerebellar Hypoplasia v0.3 KAT5 Zornitza Stark Gene: kat5 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.3 KAT5 Zornitza Stark Classified gene: KAT5 as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.3 KAT5 Zornitza Stark Gene: kat5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1504 KAT5 Zornitza Stark Marked gene: KAT5 as ready
Intellectual disability syndromic and non-syndromic v0.1504 KAT5 Zornitza Stark Added comment: Comment when marking as ready: Cannot find evidence for Mendelian gene-disease association.
Intellectual disability syndromic and non-syndromic v0.1504 KAT5 Zornitza Stark Gene: kat5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1504 KAT5 Zornitza Stark Classified gene: KAT5 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1504 KAT5 Zornitza Stark Gene: kat5 has been classified as Red List (Low Evidence).
Mendeliome v0.650 ROBO4 Zornitza Stark Marked gene: ROBO4 as ready
Mendeliome v0.650 ROBO4 Zornitza Stark Gene: robo4 has been classified as Green List (High Evidence).
Mendeliome v0.650 ROBO4 Zornitza Stark Classified gene: ROBO4 as Green List (high evidence)
Mendeliome v0.650 ROBO4 Zornitza Stark Gene: robo4 has been classified as Green List (High Evidence).
Mendeliome v0.649 ROBO4 Zornitza Stark gene: ROBO4 was added
gene: ROBO4 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ROBO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ROBO4 were set to 30455415
Phenotypes for gene: ROBO4 were set to bicuspid aortic valve; ascending aortic aneurysm; ascending aorta dilatation
Review for gene: ROBO4 was set to GREEN
Added comment: Two families, functional data, incomplete penetrance.
Sources: Literature
Congenital Heart Defect v0.2 ROBO4 Zornitza Stark Marked gene: ROBO4 as ready
Congenital Heart Defect v0.2 ROBO4 Zornitza Stark Added comment: Comment when marking as ready: Two families, functional data.
Congenital Heart Defect v0.2 ROBO4 Zornitza Stark Gene: robo4 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.2 ROBO4 Zornitza Stark Classified gene: ROBO4 as Green List (high evidence)
Congenital Heart Defect v0.2 ROBO4 Zornitza Stark Gene: robo4 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v0.9 ROBO4 Zornitza Stark Marked gene: ROBO4 as ready
Aortopathy_Connective Tissue Disorders v0.9 ROBO4 Zornitza Stark Gene: robo4 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v0.9 ROBO4 Zornitza Stark Classified gene: ROBO4 as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v0.9 ROBO4 Zornitza Stark Gene: robo4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 MRPS16 Zornitza Stark Marked gene: MRPS16 as ready
Intellectual disability syndromic and non-syndromic v0.1503 MRPS16 Zornitza Stark Gene: mrps16 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 MSH6 Zornitza Stark Marked gene: MSH6 as ready
Intellectual disability syndromic and non-syndromic v0.1503 MSH6 Zornitza Stark Gene: msh6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 MTM1 Zornitza Stark Marked gene: MTM1 as ready
Intellectual disability syndromic and non-syndromic v0.1503 MTM1 Zornitza Stark Gene: mtm1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 MTMR2 Zornitza Stark Marked gene: MTMR2 as ready
Intellectual disability syndromic and non-syndromic v0.1503 MTMR2 Zornitza Stark Gene: mtmr2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 MTPAP Zornitza Stark Marked gene: MTPAP as ready
Intellectual disability syndromic and non-syndromic v0.1503 MTPAP Zornitza Stark Gene: mtpap has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 MYH3 Zornitza Stark Marked gene: MYH3 as ready
Intellectual disability syndromic and non-syndromic v0.1503 MYH3 Zornitza Stark Gene: myh3 has been classified as Red List (Low Evidence).
Hydrocephalus_Ventriculomegaly v0.8 MYMK Zornitza Stark Marked gene: MYMK as ready
Hydrocephalus_Ventriculomegaly v0.8 MYMK Zornitza Stark Gene: mymk has been classified as Red List (Low Evidence).
Hydrocephalus_Ventriculomegaly v0.8 MYMK Zornitza Stark Phenotypes for gene: MYMK were changed from to Carey-Fineman-Ziter syndrome; OMIM #254940
Hydrocephalus_Ventriculomegaly v0.8 MYMK Zornitza Stark Publications for gene: MYMK were set to 28681861
Hydrocephalus_Ventriculomegaly v0.7 MYMK Zornitza Stark Publications for gene: MYMK were set to
Hydrocephalus_Ventriculomegaly v0.7 MYMK Zornitza Stark Mode of inheritance for gene: MYMK was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.6 MYMK Zornitza Stark Mode of inheritance for gene: MYMK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.5 MYMK Zornitza Stark Classified gene: MYMK as Red List (low evidence)
Hydrocephalus_Ventriculomegaly v0.5 MYMK Zornitza Stark Gene: mymk has been classified as Red List (Low Evidence).
Hydrocephalus_Ventriculomegaly v0.4 MYMK Zornitza Stark reviewed gene: MYMK: Rating: RED; Mode of pathogenicity: None; Publications: 28681861; Phenotypes: Carey-Fineman-Ziter syndrome, OMIM #254940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.648 MYMK Zornitza Stark Marked gene: MYMK as ready
Mendeliome v0.648 MYMK Zornitza Stark Gene: mymk has been classified as Green List (High Evidence).
Mendeliome v0.648 MYMK Zornitza Stark Classified gene: MYMK as Green List (high evidence)
Mendeliome v0.648 MYMK Zornitza Stark Gene: mymk has been classified as Green List (High Evidence).
Mendeliome v0.647 MYMK Zornitza Stark gene: MYMK was added
gene: MYMK was added to Mendeliome_VCGS. Sources: Expert list
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; OMIM #254940
Review for gene: MYMK was set to GREEN
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1503 MYMK Zornitza Stark Marked gene: MYMK as ready
Intellectual disability syndromic and non-syndromic v0.1503 MYMK Zornitza Stark Gene: mymk has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 MYO7A Zornitza Stark Marked gene: MYO7A as ready
Intellectual disability syndromic and non-syndromic v0.1503 MYO7A Zornitza Stark Gene: myo7a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 ORC4 Zornitza Stark Marked gene: ORC4 as ready
Intellectual disability syndromic and non-syndromic v0.1503 ORC4 Zornitza Stark Gene: orc4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 ORC6 Zornitza Stark Marked gene: ORC6 as ready
Intellectual disability syndromic and non-syndromic v0.1503 ORC6 Zornitza Stark Gene: orc6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 PCBD1 Zornitza Stark Marked gene: PCBD1 as ready
Intellectual disability syndromic and non-syndromic v0.1503 PCBD1 Zornitza Stark Gene: pcbd1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 SLC29A3 Zornitza Stark Marked gene: SLC29A3 as ready
Intellectual disability syndromic and non-syndromic v0.1503 SLC29A3 Zornitza Stark Gene: slc29a3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 SLC2A10 Zornitza Stark Marked gene: SLC2A10 as ready
Intellectual disability syndromic and non-syndromic v0.1503 SLC2A10 Zornitza Stark Gene: slc2a10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 SLC39A4 Zornitza Stark Marked gene: SLC39A4 as ready
Intellectual disability syndromic and non-syndromic v0.1503 SLC39A4 Zornitza Stark Gene: slc39a4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 SLC5A2 Zornitza Stark Marked gene: SLC5A2 as ready
Intellectual disability syndromic and non-syndromic v0.1503 SLC5A2 Zornitza Stark Gene: slc5a2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 SMCHD1 Zornitza Stark Marked gene: SMCHD1 as ready
Intellectual disability syndromic and non-syndromic v0.1503 SMCHD1 Zornitza Stark Gene: smchd1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 SMG6 Zornitza Stark Marked gene: SMG6 as ready
Intellectual disability syndromic and non-syndromic v0.1503 SMG6 Zornitza Stark Gene: smg6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 SNRPA Zornitza Stark Marked gene: SNRPA as ready
Intellectual disability syndromic and non-syndromic v0.1503 SNRPA Zornitza Stark Gene: snrpa has been classified as Red List (Low Evidence).
Mendeliome v0.646 EDC3 Zornitza Stark Marked gene: EDC3 as ready
Mendeliome v0.646 EDC3 Zornitza Stark Gene: edc3 has been classified as Red List (Low Evidence).
Mendeliome v0.646 EDC3 Zornitza Stark gene: EDC3 was added
gene: EDC3 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: EDC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EDC3 were set to 29685133; 25701870
Phenotypes for gene: EDC3 were set to Mental retardation, autosomal recessive 50, MIM# 616460
Review for gene: EDC3 was set to RED
Added comment: Single family reported; some functional data.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1503 EDC3 Zornitza Stark Marked gene: EDC3 as ready
Intellectual disability syndromic and non-syndromic v0.1503 EDC3 Zornitza Stark Gene: edc3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 EDC3 Zornitza Stark gene: EDC3 was added
gene: EDC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: EDC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EDC3 were set to 29685133; 25701870
Phenotypes for gene: EDC3 were set to Mental retardation, autosomal recessive 50, MIM# 616460
Review for gene: EDC3 was set to RED
Added comment: Single family reported; some functional data.
Sources: Expert list
Mendeliome v0.645 PUS3 Zornitza Stark reviewed gene: PUS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30308082, 28454995, 27055666, 30697592, 31444731; Phenotypes: Mental retardation, autosomal recessive 55, MIM# 617051; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1502 PUS3 Zornitza Stark Marked gene: PUS3 as ready
Intellectual disability syndromic and non-syndromic v0.1502 PUS3 Zornitza Stark Gene: pus3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1502 PUS3 Zornitza Stark Classified gene: PUS3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1502 PUS3 Zornitza Stark Gene: pus3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1501 PUS3 Zornitza Stark gene: PUS3 was added
gene: PUS3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: PUS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS3 were set to 30308082; 28454995; 27055666; 30697592; 31444731
Phenotypes for gene: PUS3 were set to Mental retardation, autosomal recessive 55, MIM# 617051
Review for gene: PUS3 was set to GREEN
Added comment: Seven individuals from five families reported; two of the families had the same homozygous truncating variant. Variable features reported in addition to ID, including leukoencephalopathy, EE, and nephropathy.
Sources: Expert list
Aortopathy_Connective Tissue Disorders v0.8 ROBO4 Sue White gene: ROBO4 was added
gene: ROBO4 was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Literature
Mode of inheritance for gene: ROBO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ROBO4 were set to 30455415
Phenotypes for gene: ROBO4 were set to bicuspid aortic valve; ascending aortic aneurysm; ascending aorta dilatation
Penetrance for gene: ROBO4 were set to Incomplete
Review for gene: ROBO4 was set to GREEN
Added comment: Sources: Literature
Congenital Heart Defect v0.1 ROBO4 Sue White gene: ROBO4 was added
gene: ROBO4 was added to Congenital Heart Defect_VCGS. Sources: Literature
Mode of inheritance for gene: ROBO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ROBO4 were set to 30455415
Phenotypes for gene: ROBO4 were set to bicuspid aortic valve; ascending aortic aneurysm; ascending aorta dilatation
Penetrance for gene: ROBO4 were set to Incomplete
Review for gene: ROBO4 was set to GREEN
Added comment: incomplete penetrance
Sources: Literature
Mendeliome v0.645 EIF3F Zornitza Stark Marked gene: EIF3F as ready
Mendeliome v0.645 EIF3F Zornitza Stark Gene: eif3f has been classified as Green List (High Evidence).
Mendeliome v0.645 EIF3F Zornitza Stark Classified gene: EIF3F as Green List (high evidence)
Mendeliome v0.645 EIF3F Zornitza Stark Gene: eif3f has been classified as Green List (High Evidence).
Mendeliome v0.644 EIF3F Zornitza Stark gene: EIF3F was added
gene: EIF3F was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF3F were set to 30409806
Phenotypes for gene: EIF3F were set to Mental retardation, autosomal recessive 67, MIM# 618295
Review for gene: EIF3F was set to GREEN
Added comment: Nine individuals from 7 families reported, all homozygous for the same missense variant, p.(Phe232Val). This variant is present at 0.12% frequency in non-Finnish Europeans in gnomad (no homozygotes).
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1500 EIF3F Zornitza Stark Marked gene: EIF3F as ready
Intellectual disability syndromic and non-syndromic v0.1500 EIF3F Zornitza Stark Gene: eif3f has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1500 EIF3F Zornitza Stark Classified gene: EIF3F as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1500 EIF3F Zornitza Stark Gene: eif3f has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1499 EIF3F Zornitza Stark gene: EIF3F was added
gene: EIF3F was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF3F were set to 30409806
Phenotypes for gene: EIF3F were set to Mental retardation, autosomal recessive 67, MIM# 618295
Review for gene: EIF3F was set to GREEN
Added comment: Nine individuals from 7 families reported, all homozygous for the same missense variant, p.(Phe232Val). This variant is present at 0.12% frequency in non-Finnish Europeans in gnomad (no homozygotes).
Sources: Expert list
Mendeliome v0.643 RUSC2 Zornitza Stark Marked gene: RUSC2 as ready
Mendeliome v0.643 RUSC2 Zornitza Stark Gene: rusc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.643 RUSC2 Zornitza Stark Phenotypes for gene: RUSC2 were changed from to Mental retardation, autosomal recessive 61, MIM# 617773
Mendeliome v0.642 RUSC2 Zornitza Stark Publications for gene: RUSC2 were set to
Mendeliome v0.641 RUSC2 Zornitza Stark Mode of inheritance for gene: RUSC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.640 RUSC2 Zornitza Stark Classified gene: RUSC2 as Amber List (moderate evidence)
Mendeliome v0.640 RUSC2 Zornitza Stark Gene: rusc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.639 RUSC2 Zornitza Stark reviewed gene: RUSC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27612186; Phenotypes: Mental retardation, autosomal recessive 61, MIM# 617773; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.59 RUSC2 Zornitza Stark Marked gene: RUSC2 as ready
Microcephaly v0.59 RUSC2 Zornitza Stark Gene: rusc2 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.59 RUSC2 Zornitza Stark Publications for gene: RUSC2 were set to
Microcephaly v0.58 RUSC2 Zornitza Stark Phenotypes for gene: RUSC2 were changed from Mental retardation, autosomal recessive 61, MIM# 617773 to Mental retardation, autosomal recessive 61, MIM# 617773
Genetic Epilepsy v0.142 RUSC2 Zornitza Stark Phenotypes for gene: RUSC2 were changed from Mental retardation, autosomal recessive 61, MIM# 617773 to Mental retardation, autosomal recessive 61, MIM# 617773
Microcephaly v0.57 RUSC2 Zornitza Stark Phenotypes for gene: RUSC2 were changed from to Mental retardation, autosomal recessive 61, MIM# 617773
Genetic Epilepsy v0.142 RUSC2 Zornitza Stark Marked gene: RUSC2 as ready
Genetic Epilepsy v0.142 RUSC2 Zornitza Stark Gene: rusc2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.142 RUSC2 Zornitza Stark Phenotypes for gene: RUSC2 were changed from to Mental retardation, autosomal recessive 61, MIM# 617773
Microcephaly v0.56 RUSC2 Zornitza Stark Mode of inheritance for gene: RUSC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.141 RUSC2 Zornitza Stark Publications for gene: RUSC2 were set to 27612186
Microcephaly v0.55 RUSC2 Zornitza Stark Mode of inheritance for gene: RUSC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.140 RUSC2 Zornitza Stark Publications for gene: RUSC2 were set to
Microcephaly v0.54 RUSC2 Zornitza Stark Classified gene: RUSC2 as Amber List (moderate evidence)
Microcephaly v0.54 RUSC2 Zornitza Stark Gene: rusc2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.139 RUSC2 Zornitza Stark Mode of inheritance for gene: RUSC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1498 RUSC2 Zornitza Stark Marked gene: RUSC2 as ready
Intellectual disability syndromic and non-syndromic v0.1498 RUSC2 Zornitza Stark Gene: rusc2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.138 RUSC2 Zornitza Stark Classified gene: RUSC2 as Amber List (moderate evidence)
Genetic Epilepsy v0.138 RUSC2 Zornitza Stark Gene: rusc2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1498 RUSC2 Zornitza Stark Classified gene: RUSC2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1498 RUSC2 Zornitza Stark Gene: rusc2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1497 RUSC2 Zornitza Stark gene: RUSC2 was added
gene: RUSC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: RUSC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RUSC2 were set to 27612186
Phenotypes for gene: RUSC2 were set to Mental retardation, autosomal recessive 61, MIM# 617773
Review for gene: RUSC2 was set to AMBER
Added comment: Two unrelated families reported.
Sources: Expert list
Mendeliome v0.639 RSRC1 Zornitza Stark Marked gene: RSRC1 as ready
Mendeliome v0.639 RSRC1 Zornitza Stark Gene: rsrc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.639 RSRC1 Zornitza Stark Classified gene: RSRC1 as Amber List (moderate evidence)
Mendeliome v0.639 RSRC1 Zornitza Stark Gene: rsrc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.638 RSRC1 Zornitza Stark gene: RSRC1 was added
gene: RSRC1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: RSRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RSRC1 were set to 28640246; 29522154
Phenotypes for gene: RSRC1 were set to Intellectual developmental disorder, autosomal recessive 70, MIM# 618402
Review for gene: RSRC1 was set to AMBER
Added comment: Two unrelated families reported, 8 affected individuals.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1496 RSRC1 Zornitza Stark Marked gene: RSRC1 as ready
Intellectual disability syndromic and non-syndromic v0.1496 RSRC1 Zornitza Stark Gene: rsrc1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1496 RSRC1 Zornitza Stark Classified gene: RSRC1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1496 RSRC1 Zornitza Stark Gene: rsrc1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1495 RSRC1 Zornitza Stark gene: RSRC1 was added
gene: RSRC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: RSRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RSRC1 were set to 28640246; 29522154
Phenotypes for gene: RSRC1 were set to Intellectual developmental disorder, autosomal recessive 70, MIM# 618402
Review for gene: RSRC1 was set to AMBER
Added comment: Two unrelated families reported, 8 affected individuals.
Sources: Expert list
Mendeliome v0.637 METTL5 Zornitza Stark Marked gene: METTL5 as ready
Mendeliome v0.637 METTL5 Zornitza Stark Gene: mettl5 has been classified as Green List (High Evidence).
Mendeliome v0.637 METTL5 Zornitza Stark Classified gene: METTL5 as Green List (high evidence)
Mendeliome v0.637 METTL5 Zornitza Stark Gene: mettl5 has been classified as Green List (High Evidence).
Mendeliome v0.636 METTL5 Zornitza Stark gene: METTL5 was added
gene: METTL5 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: METTL5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: METTL5 were set to 29302074; 31564433
Phenotypes for gene: METTL5 were set to Intellectual developmental disorder, autosomal recessive 72, MIM# 618665
Review for gene: METTL5 was set to GREEN
Added comment: Three unrelated families and animal model.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1494 METTL5 Zornitza Stark Classified gene: METTL5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1494 METTL5 Zornitza Stark Gene: mettl5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1493 METTL5 Zornitza Stark gene: METTL5 was added
gene: METTL5 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: METTL5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: METTL5 were set to 29302074; 31564433
Phenotypes for gene: METTL5 were set to Intellectual developmental disorder, autosomal recessive 72, MIM# 618665
Review for gene: METTL5 was set to GREEN
Added comment: Three unrelated families and animal model.
Sources: Expert list
Mendeliome v0.635 CXorf56 Zornitza Stark Marked gene: CXorf56 as ready
Mendeliome v0.635 CXorf56 Zornitza Stark Gene: cxorf56 has been classified as Red List (Low Evidence).
Mendeliome v0.635 CXorf56 Zornitza Stark gene: CXorf56 was added
gene: CXorf56 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: CXorf56 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CXorf56 were set to 29374277
Phenotypes for gene: CXorf56 were set to Mental retardation, X-linked 107, MIM# 301013
Review for gene: CXorf56 was set to RED
Added comment: Single multigenerational family reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1492 CXorf56 Zornitza Stark Marked gene: CXorf56 as ready
Intellectual disability syndromic and non-syndromic v0.1492 CXorf56 Zornitza Stark Gene: cxorf56 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1492 CXorf56 Zornitza Stark gene: CXorf56 was added
gene: CXorf56 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: CXorf56 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CXorf56 were set to 29374277
Phenotypes for gene: CXorf56 were set to Mental retardation, X-linked 107, MIM# 301013
Review for gene: CXorf56 was set to RED
Added comment: Single multigenerational family reported.
Sources: Expert list
Mendeliome v0.634 USP27X Zornitza Stark Marked gene: USP27X as ready
Mendeliome v0.634 USP27X Zornitza Stark Gene: usp27x has been classified as Amber List (Moderate Evidence).
Mendeliome v0.634 USP27X Zornitza Stark Classified gene: USP27X as Amber List (moderate evidence)
Mendeliome v0.634 USP27X Zornitza Stark Gene: usp27x has been classified as Amber List (Moderate Evidence).
Mendeliome v0.633 USP27X Zornitza Stark gene: USP27X was added
gene: USP27X was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: USP27X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: USP27X were set to 25644381
Phenotypes for gene: USP27X were set to Mental retardation, X-linked 105, MIM#300984
Review for gene: USP27X was set to AMBER
Added comment: Four individuals from two unrelated families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1491 USP27X Zornitza Stark Marked gene: USP27X as ready
Intellectual disability syndromic and non-syndromic v0.1491 USP27X Zornitza Stark Gene: usp27x has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1491 USP27X Zornitza Stark Classified gene: USP27X as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1491 USP27X Zornitza Stark Gene: usp27x has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1490 USP27X Zornitza Stark gene: USP27X was added
gene: USP27X was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: USP27X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: USP27X were set to 25644381
Phenotypes for gene: USP27X were set to Mental retardation, X-linked 105, MIM#300984
Review for gene: USP27X was set to AMBER
Added comment: Four individuals from two unrelated families reported.
Sources: Expert list
Mendeliome v0.632 KLHL15 Zornitza Stark Marked gene: KLHL15 as ready
Mendeliome v0.632 KLHL15 Zornitza Stark Gene: klhl15 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.632 KLHL15 Zornitza Stark Classified gene: KLHL15 as Amber List (moderate evidence)
Mendeliome v0.632 KLHL15 Zornitza Stark Gene: klhl15 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.631 KLHL15 Zornitza Stark gene: KLHL15 was added
gene: KLHL15 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: KLHL15 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: KLHL15 were set to 25644381; 24817631
Phenotypes for gene: KLHL15 were set to Mental retardation, X-linked 103, MIM#300982
Review for gene: KLHL15 was set to AMBER
Added comment: Two families described: variants maternally inherited in both, one deletion, the other truncating.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1489 KLHL15 Zornitza Stark Marked gene: KLHL15 as ready
Intellectual disability syndromic and non-syndromic v0.1489 KLHL15 Zornitza Stark Gene: klhl15 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1489 KLHL15 Zornitza Stark Classified gene: KLHL15 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1489 KLHL15 Zornitza Stark Gene: klhl15 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1488 KLHL15 Zornitza Stark gene: KLHL15 was added
gene: KLHL15 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: KLHL15 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: KLHL15 were set to 25644381; 24817631
Phenotypes for gene: KLHL15 were set to Mental retardation, X-linked 103, MIM#300982
Review for gene: KLHL15 was set to AMBER
Added comment: Two families described: variants maternally inherited in both, one deletion, the other truncating.
Sources: Literature
Mendeliome v0.630 ODC1 Zornitza Stark Marked gene: ODC1 as ready
Mendeliome v0.630 ODC1 Zornitza Stark Gene: odc1 has been classified as Green List (High Evidence).
Mendeliome v0.630 ODC1 Zornitza Stark Classified gene: ODC1 as Green List (high evidence)
Mendeliome v0.630 ODC1 Zornitza Stark Gene: odc1 has been classified as Green List (High Evidence).
Mendeliome v0.629 ODC1 Zornitza Stark gene: ODC1 was added
gene: ODC1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ODC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ODC1 were set to 30475435
Phenotypes for gene: ODC1 were set to Intellectual disability; macrocephaly; dysmorphism
Mode of pathogenicity for gene: ODC1 was set to Other
Review for gene: ODC1 was set to GREEN
Added comment: Four individuals with de novo GoF variants in this gene reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1487 ODC1 Zornitza Stark Marked gene: ODC1 as ready
Intellectual disability syndromic and non-syndromic v0.1487 ODC1 Zornitza Stark Gene: odc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1487 ODC1 Zornitza Stark Classified gene: ODC1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1487 ODC1 Zornitza Stark Gene: odc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1486 ODC1 Zornitza Stark gene: ODC1 was added
gene: ODC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ODC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ODC1 were set to 30475435
Phenotypes for gene: ODC1 were set to Intellectual disability; macrocephaly; dysmorphism
Mode of pathogenicity for gene: ODC1 was set to Other
Review for gene: ODC1 was set to GREEN
Added comment: Four individuals with de novo GoF variants in this gene reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1485 RALA Zornitza Stark Marked gene: RALA as ready
Intellectual disability syndromic and non-syndromic v0.1485 RALA Zornitza Stark Gene: rala has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1485 RALA Zornitza Stark Classified gene: RALA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1485 RALA Zornitza Stark Gene: rala has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1484 RALA Zornitza Stark gene: RALA was added
gene: RALA was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: RALA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RALA were set to 30500825
Phenotypes for gene: RALA were set to Intellectual disability; short stature; dysmorphism
Review for gene: RALA was set to GREEN
Added comment: Ten individuals with de novo variants in this gene, six of these at two codons only: Val25 and Lys128.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1483 LSS Zornitza Stark Phenotypes for gene: LSS were changed from Cataract 44, OMIM #616509; Hypotrichosis 14, OMIM #618275 to Cataract 44, OMIM #616509; Hypotrichosis 14, OMIM #618275; intellectual disability and alopecia
Genetic Epilepsy v0.137 P4HTM Zornitza Stark Marked gene: P4HTM as ready
Genetic Epilepsy v0.137 P4HTM Zornitza Stark Gene: p4htm has been classified as Green List (High Evidence).
Genetic Epilepsy v0.137 P4HTM Zornitza Stark Classified gene: P4HTM as Green List (high evidence)
Genetic Epilepsy v0.137 P4HTM Zornitza Stark Gene: p4htm has been classified as Green List (High Evidence).
Genetic Epilepsy v0.136 P4HTM Zornitza Stark gene: P4HTM was added
gene: P4HTM was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: P4HTM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: P4HTM were set to 25078763; 30940925
Phenotypes for gene: P4HTM were set to Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities; OMIM #618493
Review for gene: P4HTM was set to GREEN
Added comment: 12 patients from 5 families with hypotonia, intellectual disability, and eye abnormalities, and homozygous or compound heterozygous pathogenic P4HTM gene variants. Segregated with the disorder in the families. In vitro functional expression studies of 3 of the P4HTM variants showed that they caused a significant decrease in the amount of soluble protein compared to wildtype.
Sources: Literature
Genetic Epilepsy v0.135 SETD1A Zornitza Stark Marked gene: SETD1A as ready
Genetic Epilepsy v0.135 SETD1A Zornitza Stark Gene: setd1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.135 SETD1A Zornitza Stark Classified gene: SETD1A as Green List (high evidence)
Genetic Epilepsy v0.135 SETD1A Zornitza Stark Gene: setd1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.134 SETD1A Zornitza Stark gene: SETD1A was added
gene: SETD1A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: SETD1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SETD1A were set to 31197650
Phenotypes for gene: SETD1A were set to Epilepsy
Review for gene: SETD1A was set to GREEN
Added comment: Four unrelated families reported: in three, the variants occurred de novo, and in the fourth, it segregated with disease. Some functional data.
Sources: Literature
Mendeliome v0.628 RPIA Zornitza Stark Marked gene: RPIA as ready
Mendeliome v0.628 RPIA Zornitza Stark Gene: rpia has been classified as Green List (High Evidence).
Mendeliome v0.628 RPIA Zornitza Stark Phenotypes for gene: RPIA were changed from to Ribose 5-phosphate isomerase deficiency, MIM# 608611
Mendeliome v0.627 RPIA Zornitza Stark Publications for gene: RPIA were set to
Mendeliome v0.626 RPIA Zornitza Stark Mode of inheritance for gene: RPIA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.625 TRPM3 Zornitza Stark Marked gene: TRPM3 as ready
Mendeliome v0.625 TRPM3 Zornitza Stark Gene: trpm3 has been classified as Green List (High Evidence).
Mendeliome v0.625 TRPM3 Zornitza Stark Classified gene: TRPM3 as Green List (high evidence)
Mendeliome v0.625 TRPM3 Zornitza Stark Gene: trpm3 has been classified as Green List (High Evidence).
Mendeliome v0.624 TRPM3 Zornitza Stark gene: TRPM3 was added
gene: TRPM3 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: TRPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPM3 were set to 31278393
Phenotypes for gene: TRPM3 were set to Intellectual disability; epilepsy
Review for gene: TRPM3 was set to GREEN
Added comment: 8 unrelated individuals with de novo variants in this gene. Recurrent variant p.(Val837Met) identified in 7/8.
Sources: Literature
Genetic Epilepsy v0.133 TRPM3 Zornitza Stark Marked gene: TRPM3 as ready
Genetic Epilepsy v0.133 TRPM3 Zornitza Stark Gene: trpm3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.133 TRPM3 Zornitza Stark Classified gene: TRPM3 as Green List (high evidence)
Genetic Epilepsy v0.133 TRPM3 Zornitza Stark Gene: trpm3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.132 TRPM3 Zornitza Stark Classified gene: TRPM3 as Green List (high evidence)
Genetic Epilepsy v0.132 TRPM3 Zornitza Stark Gene: trpm3 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.7 ATP1A2 Zornitza Stark Marked gene: ATP1A2 as ready
Polymicrogyria and Schizencephaly v0.7 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.131 TRPM3 Zornitza Stark gene: TRPM3 was added
gene: TRPM3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: TRPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPM3 were set to 31278393
Phenotypes for gene: TRPM3 were set to Intellectual disability; epilepsy
Review for gene: TRPM3 was set to GREEN
Added comment: 8 unrelated individuals with de novo variants in this gene. Recurrent variant p.(Val837Met) identified in 7/8.
Sources: Literature
Polymicrogyria and Schizencephaly v0.7 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from to hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations
Intellectual disability syndromic and non-syndromic v0.1482 TRPM3 Zornitza Stark Marked gene: TRPM3 as ready
Intellectual disability syndromic and non-syndromic v0.1482 TRPM3 Zornitza Stark Gene: trpm3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1482 TRPM3 Zornitza Stark Classified gene: TRPM3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1482 TRPM3 Zornitza Stark Gene: trpm3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1481 TRPM3 Zornitza Stark gene: TRPM3 was added
gene: TRPM3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: TRPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPM3 were set to 31278393
Phenotypes for gene: TRPM3 were set to Intellectual disability; epilepsy
Review for gene: TRPM3 was set to GREEN
Added comment: 8 unrelated individuals with de novo variants in this gene. Recurrent variant p.(Val837Met) identified in 7/8.
Sources: Literature
Polymicrogyria and Schizencephaly v0.6 ATP1A2 Zornitza Stark Publications for gene: ATP1A2 were set to
Polymicrogyria and Schizencephaly v0.5 ATP1A2 Zornitza Stark Mode of inheritance for gene: ATP1A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.4 ATP1A2 Zornitza Stark reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31608932; Phenotypes: hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1480 TANC2 Zornitza Stark Marked gene: TANC2 as ready
Intellectual disability syndromic and non-syndromic v0.1480 TANC2 Zornitza Stark Gene: tanc2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1480 TANC2 Zornitza Stark Phenotypes for gene: TANC2 were changed from no OMIM number yet to no OMIM number yet; Intellectual disability; autism; epilepsy; dysmorphism
Genetic Epilepsy v0.130 SCN8A Zornitza Stark Marked gene: SCN8A as ready
Genetic Epilepsy v0.130 SCN8A Zornitza Stark Gene: scn8a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.130 SCN8A Zornitza Stark Phenotypes for gene: SCN8A were changed from to Epileptic encephalopathy, early infantile, 13, MIM# 614558; dominant and recessive
Genetic Epilepsy v0.129 SCN8A Zornitza Stark Publications for gene: SCN8A were set to
Genetic Epilepsy v0.128 SCN8A Zornitza Stark Mode of pathogenicity for gene: SCN8A was changed from to Other
Genetic Epilepsy v0.127 SCN8A Zornitza Stark Mode of inheritance for gene: SCN8A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.126 SCN8A Zornitza Stark reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31625145; Phenotypes: Epileptic encephalopathy, early infantile, 13, MIM# 614558, dominant and recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1479 NUS1 Zornitza Stark Marked gene: NUS1 as ready
Intellectual disability syndromic and non-syndromic v0.1479 NUS1 Zornitza Stark Gene: nus1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1479 NUS1 Zornitza Stark Classified gene: NUS1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1479 NUS1 Zornitza Stark Gene: nus1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1478 NUS1 Zornitza Stark gene: NUS1 was added
gene: NUS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NUS1 were set to 31656175; 29100083
Phenotypes for gene: NUS1 were set to Epilepsy; intellectual disability
Review for gene: NUS1 was set to GREEN
Added comment: Five individuals reported with de novo variants in this gene and epilepsy/ID phenotype (4 truncating variants and a small deletion).
Sources: Literature
Mendeliome v0.623 NUS1 Zornitza Stark Marked gene: NUS1 as ready
Mendeliome v0.623 NUS1 Zornitza Stark Gene: nus1 has been classified as Green List (High Evidence).
Mendeliome v0.623 NUS1 Zornitza Stark Phenotypes for gene: NUS1 were changed from to Epilepsy; intellectual disability
Mendeliome v0.622 NUS1 Zornitza Stark Publications for gene: NUS1 were set to
Mendeliome v0.621 NUS1 Zornitza Stark Mode of inheritance for gene: NUS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.126 NUS1 Zornitza Stark Marked gene: NUS1 as ready
Genetic Epilepsy v0.126 NUS1 Zornitza Stark Gene: nus1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.126 NUS1 Zornitza Stark Classified gene: NUS1 as Green List (high evidence)
Genetic Epilepsy v0.126 NUS1 Zornitza Stark Gene: nus1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.125 NUS1 Zornitza Stark gene: NUS1 was added
gene: NUS1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NUS1 were set to 31656175; 29100083
Phenotypes for gene: NUS1 were set to Epilepsy; intellectual disability
Review for gene: NUS1 was set to GREEN
Added comment: Five individuals reported with de novo variants in this gene and epilepsy/ID phenotype (4 truncating variants and a small deletion).
Sources: Literature
Microcephaly v0.53 UGP2 Zornitza Stark Marked gene: UGP2 as ready
Microcephaly v0.53 UGP2 Zornitza Stark Gene: ugp2 has been classified as Green List (High Evidence).
Microcephaly v0.53 UGP2 Zornitza Stark Classified gene: UGP2 as Green List (high evidence)
Microcephaly v0.53 UGP2 Zornitza Stark Gene: ugp2 has been classified as Green List (High Evidence).
Microcephaly v0.52 UGP2 Zornitza Stark gene: UGP2 was added
gene: UGP2 was added to Microcephaly_VCGS. Sources: Literature
Mode of inheritance for gene: UGP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UGP2 were set to 31820119
Phenotypes for gene: UGP2 were set to Epileptic encephalopathy; intellectual disability; microcephaly
Added comment: 22 individuals from 15 families reported with the same homozygous missense variant in this gene, chr2:64083454A > G, which causes a disruption of the start codon in the shorter isoform, which is expressed in brain.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1477 UGP2 Zornitza Stark Marked gene: UGP2 as ready
Intellectual disability syndromic and non-syndromic v0.1477 UGP2 Zornitza Stark Gene: ugp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1477 UGP2 Zornitza Stark Classified gene: UGP2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1477 UGP2 Zornitza Stark Gene: ugp2 has been classified as Green List (High Evidence).
Mendeliome v0.620 UGP2 Zornitza Stark Marked gene: UGP2 as ready
Mendeliome v0.620 UGP2 Zornitza Stark Gene: ugp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1476 UGP2 Zornitza Stark gene: UGP2 was added
gene: UGP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: UGP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UGP2 were set to 31820119
Phenotypes for gene: UGP2 were set to Epileptic encephalopathy; intellectual disability; microcephaly
Review for gene: UGP2 was set to GREEN
Added comment: 22 individuals from 15 families reported with the same homozygous missense variant in this gene, chr2:64083454A > G, which causes a disruption of the start codon in the shorter isoform, which is expressed in brain.
Sources: Literature
Mendeliome v0.620 UGP2 Zornitza Stark Classified gene: UGP2 as Green List (high evidence)
Mendeliome v0.620 UGP2 Zornitza Stark Gene: ugp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.124 UGP2 Zornitza Stark Marked gene: UGP2 as ready
Genetic Epilepsy v0.124 UGP2 Zornitza Stark Gene: ugp2 has been classified as Green List (High Evidence).
Mendeliome v0.619 UGP2 Zornitza Stark gene: UGP2 was added
gene: UGP2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: UGP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UGP2 were set to 31820119
Phenotypes for gene: UGP2 were set to Epileptic encephalopathy; intellectual disability; microcephaly
Review for gene: UGP2 was set to GREEN
Added comment: 22 individuals from 15 families reported with the same homozygous missense variant in this gene, chr2:64083454A > G, which causes a disruption of the start codon in the shorter isoform, which is expressed in brain.
Sources: Literature
Genetic Epilepsy v0.124 UGP2 Zornitza Stark Classified gene: UGP2 as Green List (high evidence)
Genetic Epilepsy v0.124 UGP2 Zornitza Stark Gene: ugp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.123 UGP2 Zornitza Stark gene: UGP2 was added
gene: UGP2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: UGP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UGP2 were set to 31820119
Phenotypes for gene: UGP2 were set to Epileptic encephalopathy; intellectual disability; microcephaly
Review for gene: UGP2 was set to GREEN
Added comment: 22 individuals from 15 families reported with the same homozygous missense variant in this gene, chr2:64083454A > G, which causes a disruption of the start codon in the shorter isoform, which is expressed in brain.
Sources: Literature
Genetic Epilepsy v0.122 STXBP1 Zornitza Stark Marked gene: STXBP1 as ready
Genetic Epilepsy v0.122 STXBP1 Zornitza Stark Gene: stxbp1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.122 STXBP1 Zornitza Stark Publications for gene: STXBP1 were set to 31855252
Genetic Epilepsy v0.121 STXBP1 Zornitza Stark Phenotypes for gene: STXBP1 were changed from to Epileptic encephalopathy, early infantile, 4, MIM#612164
Genetic Epilepsy v0.120 STXBP1 Zornitza Stark Publications for gene: STXBP1 were set to
Genetic Epilepsy v0.119 STXBP1 Zornitza Stark Mode of pathogenicity for gene: STXBP1 was changed from Other to Other
Genetic Epilepsy v0.118 STXBP1 Zornitza Stark Mode of pathogenicity for gene: STXBP1 was changed from to Other
Genetic Epilepsy v0.117 STXBP1 Zornitza Stark Mode of inheritance for gene: STXBP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.117 STXBP1 Zornitza Stark Mode of inheritance for gene: STXBP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.116 STXBP1 Zornitza Stark reviewed gene: STXBP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31855252; Phenotypes: Epileptic encephalopathy, early infantile, 4, MIM#612164; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.116 ABAT Zornitza Stark Marked gene: ABAT as ready
Genetic Epilepsy v0.116 ABAT Zornitza Stark Added comment: Comment when marking as ready: Seizures are a prominent part of the phenotype, EEGs show burst-suppression, modified hypsarrhythmia, multifocal spikes, and generalized spike-wave.
Genetic Epilepsy v0.116 ABAT Zornitza Stark Gene: abat has been classified as Green List (High Evidence).
Genetic Epilepsy v0.116 ABAT Zornitza Stark Phenotypes for gene: ABAT were changed from to GABA-transaminase deficiency, MIM#613163
Genetic Epilepsy v0.115 ABAT Zornitza Stark Publications for gene: ABAT were set to
Genetic Epilepsy v0.114 ABAT Zornitza Stark Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.618 ADRA2B Zornitza Stark Marked gene: ADRA2B as ready
Mendeliome v0.618 ADRA2B Zornitza Stark Added comment: Comment when marking as ready: Comment when marking as ready: Association has in fact been REFUTED by Corbett et al 2019 (PMID:31664034, who identified an alternative cause in the original families.
Mendeliome v0.618 ADRA2B Zornitza Stark Gene: adra2b has been classified as Red List (Low Evidence).
Mendeliome v0.618 ADRA2B Zornitza Stark Publications for gene: ADRA2B were set to
Mendeliome v0.617 ADRA2B Zornitza Stark Classified gene: ADRA2B as Red List (low evidence)
Mendeliome v0.617 ADRA2B Zornitza Stark Gene: adra2b has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.113 ADRA2B Zornitza Stark Marked gene: ADRA2B as ready
Genetic Epilepsy v0.113 ADRA2B Zornitza Stark Added comment: Comment when marking as ready: Association has in fact been REFUTED by Corbett et al 2019, who identified an alternative cause in the original families.
Genetic Epilepsy v0.113 ADRA2B Zornitza Stark Gene: adra2b has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.113 ADRA2B Zornitza Stark Phenotypes for gene: ADRA2B were changed from to Cortical myoclonus and epilepsy
Genetic Epilepsy v0.112 ADRA2B Zornitza Stark Publications for gene: ADRA2B were set to
Genetic Epilepsy v0.111 ADRA2B Zornitza Stark Classified gene: ADRA2B as Red List (low evidence)
Genetic Epilepsy v0.111 ADRA2B Zornitza Stark Gene: adra2b has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.110 ADRA2B Zornitza Stark Classified gene: ADRA2B as Amber List (moderate evidence)
Genetic Epilepsy v0.110 ADRA2B Zornitza Stark Gene: adra2b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.616 AGO3 Zornitza Stark Marked gene: AGO3 as ready
Mendeliome v0.616 AGO3 Zornitza Stark Gene: ago3 has been classified as Red List (Low Evidence).
Mendeliome v0.616 AGO3 Zornitza Stark Phenotypes for gene: AGO3 were changed from Intellectual disability; epilepsy; structural brain malformations to Intellectual disability
Mendeliome v0.615 AGO3 Zornitza Stark Marked gene: AGO3 as ready
Mendeliome v0.615 AGO3 Zornitza Stark Gene: ago3 has been classified as Red List (Low Evidence).
Mendeliome v0.615 AGO3 Zornitza Stark Phenotypes for gene: AGO3 were changed from to Intellectual disability; epilepsy; structural brain malformations
Mendeliome v0.614 AGO3 Zornitza Stark Publications for gene: AGO3 were set to
Mendeliome v0.613 AGO3 Zornitza Stark Mode of inheritance for gene: AGO3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.612 AGO3 Zornitza Stark Classified gene: AGO3 as Red List (low evidence)
Mendeliome v0.612 AGO3 Zornitza Stark Gene: ago3 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.109 AGO3 Zornitza Stark Marked gene: AGO3 as ready
Genetic Epilepsy v0.109 AGO3 Zornitza Stark Gene: ago3 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.109 AGO3 Zornitza Stark Phenotypes for gene: AGO3 were changed from to Intellectual disability
Genetic Epilepsy v0.108 AGO3 Zornitza Stark Publications for gene: AGO3 were set to
Genetic Epilepsy v0.107 AGO3 Zornitza Stark Mode of inheritance for gene: AGO3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.106 AGO3 Zornitza Stark Classified gene: AGO3 as Red List (low evidence)
Genetic Epilepsy v0.106 AGO3 Zornitza Stark Gene: ago3 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.105 ASTN1 Zornitza Stark Phenotypes for gene: ASTN1 were changed from Intellectual disability; epilepsy; structural brain malformations to Intellectual disability; epilepsy; structural brain malformations
Genetic Epilepsy v0.105 ASTN1 Zornitza Stark Marked gene: ASTN1 as ready
Genetic Epilepsy v0.105 ASTN1 Zornitza Stark Gene: astn1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.105 ASTN1 Zornitza Stark Phenotypes for gene: ASTN1 were changed from to Intellectual disability; epilepsy; structural brain malformations
Genetic Epilepsy v0.104 ASTN1 Zornitza Stark Publications for gene: ASTN1 were set to
Genetic Epilepsy v0.103 ASTN1 Zornitza Stark Mode of inheritance for gene: ASTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.102 BRAT1 Zornitza Stark Phenotypes for gene: BRAT1 were changed from Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056 to Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056
Genetic Epilepsy v0.102 BRAT1 Zornitza Stark Marked gene: BRAT1 as ready
Genetic Epilepsy v0.102 BRAT1 Zornitza Stark Gene: brat1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.102 BRAT1 Zornitza Stark Phenotypes for gene: BRAT1 were changed from to Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056
Genetic Epilepsy v0.101 BRAT1 Zornitza Stark Publications for gene: BRAT1 were set to
Genetic Epilepsy v0.100 BRAT1 Zornitza Stark Mode of inheritance for gene: BRAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.99 DMXL2 Zornitza Stark Marked gene: DMXL2 as ready
Genetic Epilepsy v0.99 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.99 MED17 Zornitza Stark Marked gene: MED17 as ready
Genetic Epilepsy v0.99 MED17 Zornitza Stark Gene: med17 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.99 MED17 Zornitza Stark Phenotypes for gene: MED17 were changed from to Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668
Genetic Epilepsy v0.98 MED17 Zornitza Stark Mode of inheritance for gene: MED17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.97 MED17 Zornitza Stark Publications for gene: MED17 were set to
Genetic Epilepsy v0.96 PIGG Zornitza Stark Marked gene: PIGG as ready
Genetic Epilepsy v0.96 PIGG Zornitza Stark Gene: pigg has been classified as Green List (High Evidence).
Genetic Epilepsy v0.96 PIGG Zornitza Stark Phenotypes for gene: PIGG were changed from to Mental retardation, autosomal recessive 53, MIM#616917
Genetic Epilepsy v0.95 PIGG Zornitza Stark Publications for gene: PIGG were set to
Genetic Epilepsy v0.94 PIGG Zornitza Stark Mode of inheritance for gene: PIGG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.93 TBCD Zornitza Stark Marked gene: TBCD as ready
Genetic Epilepsy v0.93 TBCD Zornitza Stark Gene: tbcd has been classified as Green List (High Evidence).
Genetic Epilepsy v0.93 TBCD Zornitza Stark Phenotypes for gene: TBCD were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Genetic Epilepsy v0.92 TBCD Zornitza Stark Publications for gene: TBCD were set to
Genetic Epilepsy v0.91 TBCD Zornitza Stark Mode of inheritance for gene: TBCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.90 ADAM22 Zornitza Stark Marked gene: ADAM22 as ready
Genetic Epilepsy v0.90 ADAM22 Zornitza Stark Gene: adam22 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.611 PIGP Zornitza Stark Marked gene: PIGP as ready
Mendeliome v0.611 PIGP Zornitza Stark Gene: pigp has been classified as Amber List (Moderate Evidence).
Mendeliome v0.611 PIGP Zornitza Stark Classified gene: PIGP as Amber List (moderate evidence)
Mendeliome v0.611 PIGP Zornitza Stark Gene: pigp has been classified as Amber List (Moderate Evidence).
Mendeliome v0.610 PIGP Zornitza Stark gene: PIGP was added
gene: PIGP was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: PIGP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGP were set to 31139695
Phenotypes for gene: PIGP were set to Epileptic encephalopathy, early infantile, 55, MIM# 617599
Review for gene: PIGP was set to AMBER
Added comment: Three individuals from two unrelated families reported.
Sources: Expert list
Genetic Epilepsy v0.90 PIGP Zornitza Stark Marked gene: PIGP as ready
Genetic Epilepsy v0.90 PIGP Zornitza Stark Gene: pigp has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.90 PIGP Zornitza Stark Classified gene: PIGP as Amber List (moderate evidence)
Genetic Epilepsy v0.90 PIGP Zornitza Stark Gene: pigp has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.89 PIGP Zornitza Stark gene: PIGP was added
gene: PIGP was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: PIGP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGP were set to 28334793; 31139695
Phenotypes for gene: PIGP were set to Epileptic encephalopathy, early infantile, 55, MIM# 617599
Review for gene: PIGP was set to AMBER
Added comment: Three individuals from two unrelated families reported.
Sources: Expert list
Mendeliome v0.609 NEUROD2 Zornitza Stark Marked gene: NEUROD2 as ready
Mendeliome v0.609 NEUROD2 Zornitza Stark Gene: neurod2 has been classified as Green List (High Evidence).
Mendeliome v0.609 NEUROD2 Zornitza Stark Classified gene: NEUROD2 as Green List (high evidence)
Mendeliome v0.609 NEUROD2 Zornitza Stark Gene: neurod2 has been classified as Green List (High Evidence).
Mendeliome v0.608 NEUROD2 Zornitza Stark gene: NEUROD2 was added
gene: NEUROD2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: NEUROD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NEUROD2 were set to 30323019
Phenotypes for gene: NEUROD2 were set to Epileptic encephalopathy, early infantile, 72, MIM# 618374
Review for gene: NEUROD2 was set to GREEN
Added comment: Two unrelated individuals with de novo missense variants in this gene, animal model.
Sources: Expert list
Genetic Epilepsy v0.88 NEUROD2 Zornitza Stark Marked gene: NEUROD2 as ready
Genetic Epilepsy v0.88 NEUROD2 Zornitza Stark Gene: neurod2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.88 NEUROD2 Zornitza Stark Classified gene: NEUROD2 as Green List (high evidence)
Genetic Epilepsy v0.88 NEUROD2 Zornitza Stark Gene: neurod2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.87 NEUROD2 Zornitza Stark gene: NEUROD2 was added
gene: NEUROD2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: NEUROD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NEUROD2 were set to 30323019
Phenotypes for gene: NEUROD2 were set to Epileptic encephalopathy, early infantile, 72, MIM# 618374
Review for gene: NEUROD2 was set to GREEN
Added comment: Two unrelated individuals with de novo missense variants in this gene, animal model.
Sources: Expert list
Mendeliome v0.607 GOT2 Zornitza Stark Marked gene: GOT2 as ready
Mendeliome v0.607 GOT2 Zornitza Stark Gene: got2 has been classified as Green List (High Evidence).
Mendeliome v0.607 GOT2 Zornitza Stark Classified gene: GOT2 as Green List (high evidence)
Mendeliome v0.607 GOT2 Zornitza Stark Gene: got2 has been classified as Green List (High Evidence).
Mendeliome v0.606 GOT2 Zornitza Stark gene: GOT2 was added
gene: GOT2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOT2 were set to 31422819
Phenotypes for gene: GOT2 were set to Epileptic encephalopathy, early infantile, 82, MIM# 618721
Review for gene: GOT2 was set to GREEN
Added comment: Four individuals from three unrelated families reported. Treatment with pyridoxine and serine ameliorated the phenotype.
Sources: Expert list
Genetic Epilepsy v0.86 GOT2 Zornitza Stark Marked gene: GOT2 as ready
Genetic Epilepsy v0.86 GOT2 Zornitza Stark Gene: got2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.86 GOT2 Zornitza Stark Classified gene: GOT2 as Green List (high evidence)
Genetic Epilepsy v0.86 GOT2 Zornitza Stark Gene: got2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.85 GOT2 Zornitza Stark gene: GOT2 was added
gene: GOT2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOT2 were set to 31422819
Phenotypes for gene: GOT2 were set to Epileptic encephalopathy, early infantile, 82, MIM# 618721
Review for gene: GOT2 was set to GREEN
Added comment: Four individuals from three unrelated families reported. Treatment with pyridoxine and serine ameliorated the phenotype.
Sources: Expert list
Ciliopathies v0.45 DCDC2 Zornitza Stark Phenotypes for gene: DCDC2 were changed from Nephronophthisis 19, MIM# 616217 to Nephronophthisis 19, MIM# 616217
Ciliopathies v0.44 DCDC2 Zornitza Stark Marked gene: DCDC2 as ready
Ciliopathies v0.44 DCDC2 Zornitza Stark Gene: dcdc2 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.44 DCDC2 Zornitza Stark Phenotypes for gene: DCDC2 were changed from to Nephronophthisis 19, MIM# 616217
Ciliopathies v0.44 DCDC2 Zornitza Stark Publications for gene: DCDC2 were set to
Ciliopathies v0.43 DCDC2 Zornitza Stark Mode of inheritance for gene: DCDC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.42 DCDC2 Zornitza Stark Classified gene: DCDC2 as Amber List (moderate evidence)
Ciliopathies v0.42 DCDC2 Zornitza Stark Gene: dcdc2 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.41 DCDC2 Zornitza Stark reviewed gene: DCDC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25557784; Phenotypes: Nephronophthisis 19, MIM# 616217; Mode of inheritance: None
Joubert syndrome and other neurological ciliopathies v0.9 FOXC1 Zornitza Stark Marked gene: FOXC1 as ready
Joubert syndrome and other neurological ciliopathies v0.9 FOXC1 Zornitza Stark Gene: foxc1 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.9 FOXC1 Zornitza Stark Classified gene: FOXC1 as Red List (low evidence)
Joubert syndrome and other neurological ciliopathies v0.9 FOXC1 Zornitza Stark Gene: foxc1 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.8 FOXC1 Zornitza Stark reviewed gene: FOXC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.605 GLIS2 Zornitza Stark Marked gene: GLIS2 as ready
Mendeliome v0.605 GLIS2 Zornitza Stark Gene: glis2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.605 GLIS2 Zornitza Stark Publications for gene: GLIS2 were set to 17618285, 23559409
Mendeliome v0.604 GLIS2 Zornitza Stark Mode of inheritance for gene: GLIS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.603 GLIS2 Zornitza Stark Publications for gene: GLIS2 were set to
Ciliopathies v0.41 GLIS2 Zornitza Stark Marked gene: GLIS2 as ready
Ciliopathies v0.41 GLIS2 Zornitza Stark Gene: glis2 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.41 GLIS2 Zornitza Stark Phenotypes for gene: GLIS2 were changed from to Nephronophthisis 7, OMIM#611498
Mendeliome v0.602 GLIS2 Zornitza Stark Phenotypes for gene: GLIS2 were changed from to Nephronophthisis 7, OMIM#611498
Mendeliome v0.601 GLIS2 Zornitza Stark Classified gene: GLIS2 as Amber List (moderate evidence)
Mendeliome v0.601 GLIS2 Zornitza Stark Gene: glis2 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.40 GLIS2 Zornitza Stark Publications for gene: GLIS2 were set to
Mendeliome v0.600 GLIS2 Zornitza Stark reviewed gene: GLIS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 17618285, 23559409; Phenotypes: Nephronophthisis 7, OMIM#611498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.39 GLIS2 Zornitza Stark Mode of inheritance for gene: GLIS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.38 GLIS2 Zornitza Stark Classified gene: GLIS2 as Amber List (moderate evidence)
Ciliopathies v0.38 GLIS2 Zornitza Stark Gene: glis2 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.37 GLIS2 Zornitza Stark reviewed gene: GLIS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 17618285, 23559409; Phenotypes: Nephronophthisis 7, OMIM#611498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.600 IFT57 Zornitza Stark Marked gene: IFT57 as ready
Mendeliome v0.600 IFT57 Zornitza Stark Gene: ift57 has been classified as Red List (Low Evidence).
Mendeliome v0.600 IFT57 Zornitza Stark Phenotypes for gene: IFT57 were changed from to Orofaciodigital syndrome XVIII, MIM# 617927
Mendeliome v0.599 IFT57 Zornitza Stark Publications for gene: IFT57 were set to
Mendeliome v0.598 IFT57 Zornitza Stark Mode of inheritance for gene: IFT57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.597 IFT57 Zornitza Stark Classified gene: IFT57 as Red List (low evidence)
Mendeliome v0.597 IFT57 Zornitza Stark Gene: ift57 has been classified as Red List (Low Evidence).
Mendeliome v0.596 IFT57 Zornitza Stark reviewed gene: IFT57: Rating: RED; Mode of pathogenicity: None; Publications: 27060890; Phenotypes: Orofaciodigital syndrome XVIII, MIM# 617927; Mode of inheritance: None
Mendeliome v0.596 IFT74 Zornitza Stark Marked gene: IFT74 as ready
Mendeliome v0.596 IFT74 Zornitza Stark Gene: ift74 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v0.7 IFT74 Zornitza Stark Marked gene: IFT74 as ready
Bardet Biedl syndrome v0.7 IFT74 Zornitza Stark Gene: ift74 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.596 IFT74 Zornitza Stark Classified gene: IFT74 as Amber List (moderate evidence)
Mendeliome v0.596 IFT74 Zornitza Stark Gene: ift74 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.595 IFT74 Zornitza Stark gene: IFT74 was added
gene: IFT74 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT74 were set to 27486776
Phenotypes for gene: IFT74 were set to Bardet-Biedl syndrome 20, MIM# 617119
Review for gene: IFT74 was set to AMBER
Added comment: Single family and functional data.
Sources: Expert list
Bardet Biedl syndrome v0.7 IFT74 Zornitza Stark Classified gene: IFT74 as Amber List (moderate evidence)
Bardet Biedl syndrome v0.7 IFT74 Zornitza Stark Gene: ift74 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v0.6 IFT74 Zornitza Stark Classified gene: IFT74 as Amber List (moderate evidence)
Bardet Biedl syndrome v0.6 IFT74 Zornitza Stark Gene: ift74 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v0.5 IFT74 Zornitza Stark gene: IFT74 was added
gene: IFT74 was added to Bardet Biedl syndrome_VCGS. Sources: Expert list
Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT74 were set to 27486776
Phenotypes for gene: IFT74 were set to Bardet-Biedl syndrome 20, MIM# 617119
Review for gene: IFT74 was set to AMBER
Added comment: Single family plus functional data.
Sources: Expert list
Mendeliome v0.594 IFT81 Zornitza Stark Marked gene: IFT81 as ready
Mendeliome v0.594 IFT81 Zornitza Stark Added comment: Comment when marking as ready: Three families with skeletal dysplasia, one with nephronophthisis, one with eye phenotype.
Mendeliome v0.594 IFT81 Zornitza Stark Gene: ift81 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.9 IFT81 Zornitza Stark Classified gene: IFT81 as Amber List (moderate evidence)
Skeletal Dysplasia_Fetal v0.9 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.8 IFT81 Zornitza Stark Classified gene: IFT81 as Amber List (moderate evidence)
Skeletal Dysplasia_Fetal v0.8 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.37 IFT81 Zornitza Stark Publications for gene: IFT81 were set to 27666822; 30080953; 28460050; 26275418
Ciliopathies v0.36 IFT81 Zornitza Stark Publications for gene: IFT81 were set to 27666822; 30080953; 28460050; 26275418
Ciliopathies v0.36 IFT81 Zornitza Stark Publications for gene: IFT81 were set to 27666822
Mendeliome v0.594 IFT81 Zornitza Stark Phenotypes for gene: IFT81 were changed from to Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.9 IFT81 Zornitza Stark Classified gene: IFT81 as Green List (high evidence)
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.9 IFT81 Zornitza Stark Gene: ift81 has been classified as Green List (High Evidence).
Mendeliome v0.593 IFT81 Zornitza Stark Publications for gene: IFT81 were set to 27666822
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.8 IFT81 Zornitza Stark Publications for gene: IFT81 were set to 27666822; 30080953
Ciliopathies v0.35 IFT81 Zornitza Stark Classified gene: IFT81 as Green List (high evidence)
Ciliopathies v0.35 IFT81 Zornitza Stark Gene: ift81 has been classified as Green List (High Evidence).
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.7 IFT81 Zornitza Stark Publications for gene: IFT81 were set to 27666822
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.7 IFT81 Zornitza Stark Classified gene: IFT81 as Green List (high evidence)
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.7 IFT81 Zornitza Stark Gene: ift81 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.7 IFT81 Zornitza Stark Publications for gene: IFT81 were set to 27666822
Skeletal Dysplasia_Fetal v0.6 IFT81 Zornitza Stark Classified gene: IFT81 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.6 IFT81 Zornitza Stark Gene: ift81 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.67 IFT81 Zornitza Stark Marked gene: IFT81 as ready
Renal Ciliopathies and Nephronophthisis v0.67 IFT81 Zornitza Stark Added comment: Comment when marking as ready: Single family with renal phenotype.
Renal Ciliopathies and Nephronophthisis v0.67 IFT81 Zornitza Stark Gene: ift81 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.67 IFT81 Zornitza Stark Mode of inheritance for gene: IFT81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.592 IFT81 Zornitza Stark Mode of inheritance for gene: IFT81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.66 IFT81 Zornitza Stark Publications for gene: IFT81 were set to
Renal Ciliopathies and Nephronophthisis v0.65 IFT81 Zornitza Stark Phenotypes for gene: IFT81 were changed from to Short-rib thoracic dysplasia 19 with or without polydactyly; OMIM #617895
Mendeliome v0.591 IFT81 Zornitza Stark Classified gene: IFT81 as Green List (high evidence)
Mendeliome v0.591 IFT81 Zornitza Stark Gene: ift81 has been classified as Green List (High Evidence).
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.6 IFT81 Zornitza Stark Publications for gene: IFT81 were set to 27666822; 26275418
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.5 IFT81 Zornitza Stark Added comment: Comment on publications: Third report identified.
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.5 IFT81 Zornitza Stark Publications for gene: IFT81 were set to 27666822
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.5 IFT81 Zornitza Stark Classified gene: IFT81 as Green List (high evidence)
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.5 IFT81 Zornitza Stark Gene: ift81 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.3 IFT81 Zornitza Stark Classified gene: IFT81 as Amber List (moderate evidence)
Skeletal dysplasia v0.3 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.590 IFT81 Zornitza Stark Publications for gene: IFT81 were set to
Mendeliome v0.589 IFT81 Zornitza Stark Classified gene: IFT81 as Amber List (moderate evidence)
Mendeliome v0.589 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.588 IFT81 Zornitza Stark reviewed gene: IFT81: Rating: AMBER; Mode of pathogenicity: None; Publications: 27666822; Phenotypes: Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.2 IFT81 Zornitza Stark reviewed gene: IFT81: Rating: AMBER; Mode of pathogenicity: None; Publications: 27666822; Phenotypes: Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.5 IFT81 Zornitza Stark Marked gene: IFT81 as ready
Skeletal Dysplasia_Fetal v0.5 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.4 IFT81 Zornitza Stark Marked gene: IFT81 as ready
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.4 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.34 IFT81 Zornitza Stark Marked gene: IFT81 as ready
Ciliopathies v0.34 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.34 IFT81 Zornitza Stark Classified gene: IFT81 as Amber List (moderate evidence)
Ciliopathies v0.34 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.5 IFT81 Zornitza Stark Mode of inheritance for gene: IFT81 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.4 IFT81 Zornitza Stark Publications for gene: IFT81 were set to
Skeletal Dysplasia_Fetal v0.4 IFT81 Zornitza Stark Mode of inheritance for gene: IFT81 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.33 IFT81 Zornitza Stark Classified gene: IFT81 as Amber List (moderate evidence)
Ciliopathies v0.33 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.33 IFT81 Zornitza Stark Publications for gene: IFT81 were set to
Skeletal Dysplasia_Fetal v0.3 IFT81 Zornitza Stark Mode of inheritance for gene: IFT81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.3 IFT81 Zornitza Stark Phenotypes for gene: IFT81 were changed from to Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895
Ciliopathies v0.32 IFT81 Zornitza Stark Phenotypes for gene: IFT81 were changed from to Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895
Skeletal Dysplasia_Fetal v0.3 IFT81 Zornitza Stark Phenotypes for gene: IFT81 were changed from to Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.2 IFT81 Zornitza Stark Mode of inheritance for gene: IFT81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.31 IFT81 Zornitza Stark Mode of inheritance for gene: IFT81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.2 IFT81 Zornitza Stark Publications for gene: IFT81 were set to
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.1 IFT81 Zornitza Stark Classified gene: IFT81 as Amber List (moderate evidence)
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.1 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.0 IFT81 Zornitza Stark reviewed gene: IFT81: Rating: AMBER; Mode of pathogenicity: None; Publications: 27666822; Phenotypes: Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.30 IFT81 Zornitza Stark reviewed gene: IFT81: Rating: AMBER; Mode of pathogenicity: None; Publications: 27666822; Phenotypes: Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.1 IFT81 Zornitza Stark Classified gene: IFT81 as Amber List (moderate evidence)
Skeletal Dysplasia_Fetal v0.1 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.0 IFT81 Zornitza Stark reviewed gene: IFT81: Rating: AMBER; Mode of pathogenicity: None; Publications: 27666822; Phenotypes: Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.15 PDE6D Zornitza Stark Added comment: Comment on publications: Second family identified.
Polydactyly v0.15 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846; 30423442
Polydactyly v0.14 PDE6D Zornitza Stark Added comment: Comment on publications: Second family identified
Polydactyly v0.14 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846
Polydactyly v0.14 PDE6D Zornitza Stark Classified gene: PDE6D as Amber List (moderate evidence)
Polydactyly v0.14 PDE6D Zornitza Stark Gene: pde6d has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.30 PDE6D Zornitza Stark Marked gene: PDE6D as ready
Ciliopathies v0.30 PDE6D Zornitza Stark Added comment: Comment when marking as ready: Second family identified PMID 30423442
Ciliopathies v0.30 PDE6D Zornitza Stark Gene: pde6d has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.8 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846
Joubert syndrome and other neurological ciliopathies v0.7 PDE6D Zornitza Stark Classified gene: PDE6D as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.7 PDE6D Zornitza Stark Gene: pde6d has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.30 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846; 30423442
Intellectual disability syndromic and non-syndromic v0.1475 PDE6D Zornitza Stark Classified gene: PDE6D as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1475 PDE6D Zornitza Stark Gene: pde6d has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.6 PDE6D Zornitza Stark Classified gene: PDE6D as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.6 PDE6D Zornitza Stark Gene: pde6d has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.6 PDE6D Zornitza Stark Classified gene: PDE6D as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.6 PDE6D Zornitza Stark Gene: pde6d has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.29 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846
Mendeliome v0.588 PDE6D Zornitza Stark Marked gene: PDE6D as ready
Mendeliome v0.588 PDE6D Zornitza Stark Added comment: Comment when marking as ready: Second family identified in the literature.
Mendeliome v0.588 PDE6D Zornitza Stark Gene: pde6d has been classified as Amber List (Moderate Evidence).
Mendeliome v0.588 PDE6D Zornitza Stark Phenotypes for gene: PDE6D were changed from to Joubert syndrome 22, OMIM #615665
Ciliopathies v0.29 PDE6D Zornitza Stark Classified gene: PDE6D as Amber List (moderate evidence)
Ciliopathies v0.29 PDE6D Zornitza Stark Gene: pde6d has been classified as Amber List (Moderate Evidence).
Regression v0.51 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846; 30423442
Regression v0.50 PDE6D Zornitza Stark Marked gene: PDE6D as ready
Regression v0.50 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Regression v0.50 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846
Regression v0.49 PDE6D Zornitza Stark Marked gene: PDE6D as ready
Regression v0.49 PDE6D Zornitza Stark Added comment: Comment when marking as ready: Two families; link with regression not established.
Regression v0.49 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Mendeliome v0.587 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846
Mendeliome v0.586 PDE6D Zornitza Stark Classified gene: PDE6D as Amber List (moderate evidence)
Mendeliome v0.586 PDE6D Zornitza Stark Gene: pde6d has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1474 PDE6D Zornitza Stark edited their review of gene: PDE6D: Changed rating: AMBER
Regression v0.49 PDE6D Zornitza Stark Phenotypes for gene: PDE6D were changed from Joubert syndrome 22, OMIM #615665 to Joubert syndrome 22, OMIM #615665
Polydactyly v0.13 PDE6D Zornitza Stark Marked gene: PDE6D as ready
Polydactyly v0.13 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Regression v0.48 PDE6D Zornitza Stark Phenotypes for gene: PDE6D were changed from Joubert syndrome 22, OMIM #615665 to Joubert syndrome 22, OMIM #615665
Polydactyly v0.13 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846
Regression v0.47 PDE6D Zornitza Stark Phenotypes for gene: PDE6D were changed from to Joubert syndrome 22, OMIM #615665
Mendeliome v0.585 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846
Polydactyly v0.12 PDE6D Zornitza Stark Publications for gene: PDE6D were set to
Regression v0.47 PDE6D Zornitza Stark Publications for gene: PDE6D were set to
Regression v0.46 PDE6D Zornitza Stark Mode of inheritance for gene: PDE6D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.46 PDE6D Zornitza Stark Classified gene: PDE6D as Red List (low evidence)
Regression v0.46 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.5 PDE6D Zornitza Stark Marked gene: PDE6D as ready
Joubert syndrome and other neurological ciliopathies v0.5 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Mendeliome v0.584 PDE6D Zornitza Stark Publications for gene: PDE6D were set to
Joubert syndrome and other neurological ciliopathies v0.5 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846
Polydactyly v0.11 PDE6D Zornitza Stark Phenotypes for gene: PDE6D were changed from to Joubert syndrome 22, OMIM #615665
Joubert syndrome and other neurological ciliopathies v0.5 PDE6D Zornitza Stark Publications for gene: PDE6D were set to
Polydactyly v0.11 PDE6D Zornitza Stark Mode of inheritance for gene: PDE6D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.583 PDE6D Zornitza Stark Mode of inheritance for gene: PDE6D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.582 PDE6D Zornitza Stark Classified gene: PDE6D as Red List (low evidence)
Mendeliome v0.582 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.4 PDE6D Zornitza Stark Phenotypes for gene: PDE6D were changed from to Joubert syndrome 22, OMIM #615665
Mendeliome v0.581 PDE6D Zornitza Stark reviewed gene: PDE6D: Rating: RED; Mode of pathogenicity: None; Publications: 24166846; Phenotypes: Joubert syndrome 22, OMIM #615665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.3 PDE6D Zornitza Stark Mode of inheritance for gene: PDE6D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.10 PDE6D Zornitza Stark Classified gene: PDE6D as Red List (low evidence)
Polydactyly v0.10 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.2 PDE6D Zornitza Stark Classified gene: PDE6D as Red List (low evidence)
Joubert syndrome and other neurological ciliopathies v0.2 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Polydactyly v0.9 PDE6D Zornitza Stark reviewed gene: PDE6D: Rating: RED; Mode of pathogenicity: None; Publications: 24166846; Phenotypes: Joubert syndrome 22, OMIM #615665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.1 PDE6D Zornitza Stark reviewed gene: PDE6D: Rating: RED; Mode of pathogenicity: None; Publications: 24166846; Phenotypes: Joubert syndrome 22, OMIM #615665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.28 PDE6D Zornitza Stark Marked gene: PDE6D as ready
Ciliopathies v0.28 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Ciliopathies v0.28 PDE6D Zornitza Stark Phenotypes for gene: PDE6D were changed from to Joubert syndrome 22, OMIM #615665
Ciliopathies v0.27 PDE6D Zornitza Stark Publications for gene: PDE6D were set to
Ciliopathies v0.26 PDE6D Zornitza Stark Mode of inheritance for gene: PDE6D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.25 PDE6D Zornitza Stark Classified gene: PDE6D as Red List (low evidence)
Ciliopathies v0.25 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Ciliopathies v0.24 PDE6D Zornitza Stark reviewed gene: PDE6D: Rating: RED; Mode of pathogenicity: None; Publications: 24166846; Phenotypes: Joubert syndrome 22, OMIM #615665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.581 SLC41A1 Zornitza Stark Marked gene: SLC41A1 as ready
Mendeliome v0.581 SLC41A1 Zornitza Stark Gene: slc41a1 has been classified as Red List (Low Evidence).
Mendeliome v0.581 SLC41A1 Zornitza Stark Phenotypes for gene: SLC41A1 were changed from to Nephronophthisis
Mendeliome v0.580 SLC41A1 Zornitza Stark Publications for gene: SLC41A1 were set to
Mendeliome v0.579 SLC41A1 Zornitza Stark Mode of inheritance for gene: SLC41A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.578 SLC41A1 Zornitza Stark Classified gene: SLC41A1 as Red List (low evidence)
Mendeliome v0.578 SLC41A1 Zornitza Stark Gene: slc41a1 has been classified as Red List (Low Evidence).
Mendeliome v0.577 SLC41A1 Zornitza Stark reviewed gene: SLC41A1: Rating: RED; Mode of pathogenicity: None; Publications: 23661805; Phenotypes: Nephronophthisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1474 TRIM32 Zornitza Stark Marked gene: TRIM32 as ready
Intellectual disability syndromic and non-syndromic v0.1474 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1474 TRIM32 Zornitza Stark Phenotypes for gene: TRIM32 were changed from to Bardet-Biedl syndrome 11, MIM# 615988
Intellectual disability syndromic and non-syndromic v0.1473 TRIM32 Zornitza Stark Publications for gene: TRIM32 were set to
Intellectual disability syndromic and non-syndromic v0.1472 TRIM32 Zornitza Stark Mode of inheritance for gene: TRIM32 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1471 TRIM32 Zornitza Stark Classified gene: TRIM32 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1471 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1470 TRIM32 Zornitza Stark reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: None; Publications: 16606853; Phenotypes: Bardet-Biedl syndrome 11, MIM# 615988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.4 TRIM32 Zornitza Stark Phenotypes for gene: TRIM32 were changed from Bardet-Biedl syndrome 11, MIM# 615988 to Bardet-Biedl syndrome 11, MIM# 615988
Bardet Biedl syndrome v0.4 TRIM32 Zornitza Stark Marked gene: TRIM32 as ready
Bardet Biedl syndrome v0.4 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Bardet Biedl syndrome v0.4 TRIM32 Zornitza Stark Publications for gene: TRIM32 were set to 16606853
Bardet Biedl syndrome v0.3 TRIM32 Zornitza Stark Phenotypes for gene: TRIM32 were changed from to Bardet-Biedl syndrome 11, MIM# 615988
Bardet Biedl syndrome v0.3 TRIM32 Zornitza Stark Publications for gene: TRIM32 were set to
Bardet Biedl syndrome v0.3 TRIM32 Zornitza Stark Mode of inheritance for gene: TRIM32 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.2 TRIM32 Zornitza Stark Mode of inheritance for gene: TRIM32 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.2 TRIM32 Zornitza Stark Mode of inheritance for gene: TRIM32 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.1 TRIM32 Zornitza Stark Classified gene: TRIM32 as Red List (low evidence)
Bardet Biedl syndrome v0.1 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Bardet Biedl syndrome v0.0 TRIM32 Zornitza Stark reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: None; Publications: 16606853; Phenotypes: Bardet-Biedl syndrome 11, MIM# 615988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.9 TRIM32 Zornitza Stark Marked gene: TRIM32 as ready
Polydactyly v0.9 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Polydactyly v0.9 TRIM32 Zornitza Stark Phenotypes for gene: TRIM32 were changed from to Bardet-Biedl syndrome 11, MIM# 615988
Polydactyly v0.8 TRIM32 Zornitza Stark Publications for gene: TRIM32 were set to
Polydactyly v0.7 TRIM32 Zornitza Stark Classified gene: TRIM32 as Red List (low evidence)
Polydactyly v0.7 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Polydactyly v0.6 TRIM32 Zornitza Stark Mode of inheritance for gene: TRIM32 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.6 TRIM32 Zornitza Stark Classified gene: TRIM32 as Red List (low evidence)
Polydactyly v0.6 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Polydactyly v0.5 TRIM32 Zornitza Stark reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: None; Publications: 16606853; Phenotypes: Bardet-Biedl syndrome 11, MIM# 615988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.24 TRIM32 Zornitza Stark Marked gene: TRIM32 as ready
Ciliopathies v0.24 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Ciliopathies v0.24 TRIM32 Zornitza Stark Phenotypes for gene: TRIM32 were changed from to Bardet-Biedl syndrome 11, MIM# 615988
Ciliopathies v0.24 TRIM32 Zornitza Stark Publications for gene: TRIM32 were set to
Ciliopathies v0.23 TRIM32 Zornitza Stark Mode of inheritance for gene: TRIM32 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.22 TRIM32 Zornitza Stark Classified gene: TRIM32 as Red List (low evidence)
Ciliopathies v0.22 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Ciliopathies v0.21 TRIM32 Zornitza Stark reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: None; Publications: 16606853; Phenotypes: Bardet-Biedl syndrome 11, MIM# 615988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.51 XPNPEP3 Zornitza Stark Marked gene: XPNPEP3 as ready
Callosome v0.51 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1470 XPNPEP3 Zornitza Stark Marked gene: XPNPEP3 as ready
Intellectual disability syndromic and non-syndromic v0.1470 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Callosome v0.51 XPNPEP3 Zornitza Stark Mode of inheritance for gene: XPNPEP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.50 XPNPEP3 Zornitza Stark Mode of inheritance for gene: XPNPEP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.50 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Red List (low evidence)
Callosome v0.50 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1470 XPNPEP3 Zornitza Stark Phenotypes for gene: XPNPEP3 were changed from to Nephronophthisis-like nephropathy 1, OMIM #613159
Intellectual disability syndromic and non-syndromic v0.1469 XPNPEP3 Zornitza Stark Publications for gene: XPNPEP3 were set to
Intellectual disability syndromic and non-syndromic v0.1468 XPNPEP3 Zornitza Stark Mode of inheritance for gene: XPNPEP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1467 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1467 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Callosome v0.49 XPNPEP3 Zornitza Stark Publications for gene: XPNPEP3 were set to
Intellectual disability syndromic and non-syndromic v0.1466 XPNPEP3 Zornitza Stark reviewed gene: XPNPEP3: Rating: RED; Mode of pathogenicity: None; Publications: 20179356; Phenotypes: Nephronophthisis-like nephropathy 1, OMIM #613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.48 XPNPEP3 Zornitza Stark Phenotypes for gene: XPNPEP3 were changed from to Nephronophthisis-like nephropathy 1, OMIM #613159
Mendeliome v0.577 XPNPEP3 Zornitza Stark Marked gene: XPNPEP3 as ready
Mendeliome v0.577 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Callosome v0.47 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Red List (low evidence)
Callosome v0.47 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Mendeliome v0.577 XPNPEP3 Zornitza Stark Phenotypes for gene: XPNPEP3 were changed from to Nephronophthisis-like nephropathy 1, OMIM #613159
Callosome v0.47 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Red List (low evidence)
Callosome v0.47 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Mendeliome v0.576 XPNPEP3 Zornitza Stark Publications for gene: XPNPEP3 were set to
Callosome v0.46 XPNPEP3 Zornitza Stark reviewed gene: XPNPEP3: Rating: RED; Mode of pathogenicity: None; Publications: 20179356; Phenotypes: Nephronophthisis-like nephropathy 1, OMIM #613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.21 XPNPEP3 Zornitza Stark Marked gene: XPNPEP3 as ready
Ciliopathies v0.21 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Mendeliome v0.575 XPNPEP3 Zornitza Stark Mode of inheritance for gene: XPNPEP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.21 XPNPEP3 Zornitza Stark Mode of inheritance for gene: XPNPEP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.574 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Red List (low evidence)
Mendeliome v0.574 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Ciliopathies v0.20 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Red List (low evidence)
Ciliopathies v0.20 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Mendeliome v0.573 XPNPEP3 Zornitza Stark reviewed gene: XPNPEP3: Rating: RED; Mode of pathogenicity: None; Publications: 20179356; Phenotypes: Nephronophthisis-like nephropathy 1, OMIM #613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.19 XPNPEP3 Zornitza Stark Phenotypes for gene: XPNPEP3 were changed from to Nephronophthisis-like nephropathy 1, OMIM #613159
Ciliopathies v0.19 XPNPEP3 Zornitza Stark Publications for gene: XPNPEP3 were set to
Ciliopathies v0.19 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Red List (low evidence)
Ciliopathies v0.19 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Ciliopathies v0.18 XPNPEP3 Zornitza Stark reviewed gene: XPNPEP3: Rating: RED; Mode of pathogenicity: None; Publications: 20179356; Phenotypes: Nephronophthisis-like nephropathy 1, OMIM #613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.573 ZNF423 Zornitza Stark Marked gene: ZNF423 as ready
Mendeliome v0.573 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Regression v0.45 ZNF423 Zornitza Stark Marked gene: ZNF423 as ready
Regression v0.45 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Mendeliome v0.573 ZNF423 Zornitza Stark Phenotypes for gene: ZNF423 were changed from to Joubert syndrome 19, OMIM# 614844
Regression v0.45 ZNF423 Zornitza Stark Phenotypes for gene: ZNF423 were changed from Joubert syndrome 19, OMIM# 614844 to Joubert syndrome 19, OMIM# 614844
Regression v0.44 ZNF423 Zornitza Stark Phenotypes for gene: ZNF423 were changed from Joubert syndrome 19, OMIM# 614844 to Joubert syndrome 19, OMIM# 614844
Mendeliome v0.572 ZNF423 Zornitza Stark Publications for gene: ZNF423 were set to
Regression v0.44 ZNF423 Zornitza Stark Phenotypes for gene: ZNF423 were changed from to Joubert syndrome 19, OMIM# 614844
Mendeliome v0.571 ZNF423 Zornitza Stark Mode of inheritance for gene: ZNF423 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Regression v0.43 ZNF423 Zornitza Stark Publications for gene: ZNF423 were set to
Mendeliome v0.570 ZNF423 Zornitza Stark Classified gene: ZNF423 as Red List (low evidence)
Mendeliome v0.570 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Regression v0.43 ZNF423 Zornitza Stark Mode of inheritance for gene: ZNF423 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.569 ZNF423 Zornitza Stark reviewed gene: ZNF423: Rating: RED; Mode of pathogenicity: None; Publications: 22863007; Phenotypes: Joubert syndrome 19, OMIM# 614844; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ciliopathies v0.18 ZNF423 Zornitza Stark Marked gene: ZNF423 as ready
Ciliopathies v0.18 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Regression v0.42 ZNF423 Zornitza Stark Classified gene: ZNF423 as Red List (low evidence)
Regression v0.42 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Ciliopathies v0.18 ZNF423 Zornitza Stark Phenotypes for gene: ZNF423 were changed from to Joubert syndrome 19, OMIM# 614844
Regression v0.41 ZNF423 Zornitza Stark reviewed gene: ZNF423: Rating: RED; Mode of pathogenicity: None; Publications: 22863007; Phenotypes: Joubert syndrome 19, OMIM# 614844; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ciliopathies v0.17 ZNF423 Zornitza Stark Publications for gene: ZNF423 were set to
Ciliopathies v0.16 ZNF423 Zornitza Stark Mode of inheritance for gene: ZNF423 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ciliopathies v0.15 ZNF423 Zornitza Stark Classified gene: ZNF423 as Red List (low evidence)
Ciliopathies v0.15 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Ciliopathies v0.14 ZNF423 Zornitza Stark reviewed gene: ZNF423: Rating: RED; Mode of pathogenicity: None; Publications: 22863007; Phenotypes: Joubert syndrome 19, OMIM# 614844; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Haematuria_Alport v0.20 NPHS2 Chirag Patel Classified gene: NPHS2 as Red List (low evidence)
Haematuria_Alport v0.20 NPHS2 Chirag Patel Gene: nphs2 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.20 NPHS2 Chirag Patel Classified gene: NPHS2 as Red List (low evidence)
Haematuria_Alport v0.20 NPHS2 Chirag Patel Gene: nphs2 has been classified as Red List (Low Evidence).
Proteinuria v0.65 FN1 Zornitza Stark Marked gene: FN1 as ready
Proteinuria v0.65 FN1 Zornitza Stark Gene: fn1 has been classified as Green List (High Evidence).
Proteinuria v0.65 FN1 Zornitza Stark Classified gene: FN1 as Green List (high evidence)
Proteinuria v0.65 FN1 Zornitza Stark Gene: fn1 has been classified as Green List (High Evidence).
Haematuria_Alport v0.19 LMX1B Chirag Patel Classified gene: LMX1B as Red List (low evidence)
Haematuria_Alport v0.19 LMX1B Chirag Patel Gene: lmx1b has been classified as Red List (Low Evidence).
Haematuria_Alport v0.19 NPHS2 Chirag Patel reviewed gene: NPHS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Haematuria_Alport v0.19 CUBN Chirag Patel Classified gene: CUBN as Red List (low evidence)
Haematuria_Alport v0.19 CUBN Chirag Patel Gene: cubn has been classified as Red List (Low Evidence).
Proteinuria v0.64 FN1 Zornitza Stark Classified gene: FN1 as Green List (high evidence)
Proteinuria v0.64 FN1 Zornitza Stark Gene: fn1 has been classified as Green List (High Evidence).
Haematuria_Alport v0.18 LMX1B Chirag Patel reviewed gene: LMX1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Haematuria_Alport v0.18 CUBN Chirag Patel reviewed gene: CUBN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Proteinuria v0.63 FN1 Zornitza Stark gene: FN1 was added
gene: FN1 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: FN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FN1 were set to 18268355
Phenotypes for gene: FN1 were set to Glomerulopathy with fibronectin deposits 2, MIM# 601894
Review for gene: FN1 was set to GREEN
Added comment: Six unrelated families reported; mostly a nephrotic picture with some haematuria.
Sources: Expert list
Haematuria_Alport v0.18 FN1 Chirag Patel Classified gene: FN1 as Red List (low evidence)
Haematuria_Alport v0.18 FN1 Chirag Patel Gene: fn1 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.17 FN1 Chirag Patel reviewed gene: FN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Haematuria_Alport v0.17 CFHR5 Chirag Patel Classified gene: CFHR5 as Red List (low evidence)
Haematuria_Alport v0.17 CFHR5 Chirag Patel Gene: cfhr5 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.17 CFHR5 Chirag Patel Classified gene: CFHR5 as Red List (low evidence)
Haematuria_Alport v0.17 CFHR5 Chirag Patel Gene: cfhr5 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.16 CLCN5 Zornitza Stark Marked gene: CLCN5 as ready
Haematuria_Alport v0.16 CLCN5 Zornitza Stark Gene: clcn5 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.16 CLCN5 Chirag Patel Classified gene: CLCN5 as Red List (low evidence)
Haematuria_Alport v0.16 CLCN5 Chirag Patel Gene: clcn5 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.15 CLCN5 Chirag Patel Classified gene: CLCN5 as Red List (low evidence)
Haematuria_Alport v0.15 CLCN5 Chirag Patel Gene: clcn5 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.15 CLCN5 Chirag Patel Classified gene: CLCN5 as Red List (low evidence)
Haematuria_Alport v0.15 CLCN5 Chirag Patel Gene: clcn5 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.14 CLCN5 Chirag Patel reviewed gene: CLCN5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Haematuria_Alport v0.14 CFHR5 Chirag Patel reviewed gene: CFHR5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Haematuria_Alport v0.14 CFH Chirag Patel Classified gene: CFH as Red List (low evidence)
Haematuria_Alport v0.14 CFH Chirag Patel Gene: cfh has been classified as Red List (Low Evidence).
Haematuria_Alport v0.13 CFH Chirag Patel reviewed gene: CFH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Ciliopathies and Nephronophthisis v0.64 ZNF423 Zornitza Stark Marked gene: ZNF423 as ready
Renal Ciliopathies and Nephronophthisis v0.64 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.64 ZNF423 Zornitza Stark Phenotypes for gene: ZNF423 were changed from to Joubert syndrome 19, OMIM# 614844
Renal Ciliopathies and Nephronophthisis v0.63 ZNF423 Zornitza Stark Publications for gene: ZNF423 were set to
Renal Ciliopathies and Nephronophthisis v0.62 XPNPEP3 Chirag Patel Classified gene: XPNPEP3 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.62 XPNPEP3 Chirag Patel Gene: xpnpep3 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.61 ZNF423 Zornitza Stark Mode of inheritance for gene: ZNF423 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.60 XPNPEP3 Chirag Patel reviewed gene: XPNPEP3: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 20179356; Phenotypes: Nephronophthisis-like nephropathy 1, OMIM #613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.60 ZNF423 Zornitza Stark Classified gene: ZNF423 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.60 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.59 ZNF423 Zornitza Stark reviewed gene: ZNF423: Rating: RED; Mode of pathogenicity: None; Publications: 22863007; Phenotypes: Joubert syndrome 19, OMIM# 614844; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.59 TRIM32 Zornitza Stark Marked gene: TRIM32 as ready
Renal Ciliopathies and Nephronophthisis v0.59 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.59 TRIM32 Zornitza Stark Phenotypes for gene: TRIM32 were changed from to Bardet-Biedl syndrome 11, MIM# 615988
Renal Ciliopathies and Nephronophthisis v0.58 TRIM32 Zornitza Stark Publications for gene: TRIM32 were set to
Renal Ciliopathies and Nephronophthisis v0.57 TRIM32 Zornitza Stark Mode of inheritance for gene: TRIM32 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.56 TRIM32 Zornitza Stark Classified gene: TRIM32 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.56 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.55 TRIM32 Zornitza Stark reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: None; Publications: 16606853; Phenotypes: Bardet-Biedl syndrome 11, MIM# 615988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.55 WDR34 Chirag Patel Classified gene: WDR34 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.55 WDR34 Chirag Patel Gene: wdr34 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.54 WDR34 Chirag Patel reviewed gene: WDR34: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.54 SLC41A1 Chirag Patel Classified gene: SLC41A1 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.54 SLC41A1 Chirag Patel Gene: slc41a1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.53 SLC41A1 Chirag Patel reviewed gene: SLC41A1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23661805; Phenotypes: no OMIM number; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.53 SCLT1 Chirag Patel Classified gene: SCLT1 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.53 SCLT1 Chirag Patel Gene: sclt1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.52 SCLT1 Chirag Patel reviewed gene: SCLT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Ciliopathies and Nephronophthisis v0.52 POC1B Chirag Patel Classified gene: POC1B as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.52 POC1B Chirag Patel Gene: poc1b has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.51 POC1B Chirag Patel reviewed gene: POC1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Ciliopathies and Nephronophthisis v0.51 PDE6D Chirag Patel Classified gene: PDE6D as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.51 PDE6D Chirag Patel Gene: pde6d has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.50 PDE6D Chirag Patel reviewed gene: PDE6D: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24166846; Phenotypes: ?Joubert syndrome 22, OMIM #615665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.34 KIF14 Chirag Patel Classified gene: KIF14 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.34 KIF14 Chirag Patel Gene: kif14 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.33 KIF14 Chirag Patel gene: KIF14 was added
gene: KIF14 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Literature
Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF14 were set to PMID: 30388224. 24128419
Phenotypes for gene: KIF14 were set to Microcephaly 20, primary, autosomal recessive, OMIM #617914; ?Meckel syndrome 12, OMIM #616258
Review for gene: KIF14 was set to GREEN
Added comment: 1 family with 2 sib fetuses with features consistent with Meckel syndrome, with KIF14 mutations which segregated with the disorder in the family


Mutations in KIF14 have previously been associated with either severe, isolated or syndromic microcephaly with renal hypodysplasia (RHD). Four families with fetuses presenting with the syndromic form and harbouring biallelic variants in KIF14. The functional analyses showed that the identified variants severely impact the activity of KIF14 and likely correspond to loss-of-function mutations. In vitro and in vivo analyses did not provide evidence of a direct role for KIF14 in ciliogenesis and suggested that loss of kif14 causes ciliopathy-like phenotypes through an accumulation of mitotic cells in ciliated tissues. Altogether, the results demonstrate that KIF14 mutations result in a severe syndrome associating microcephaly and RHD through its conserved function in cytokinesis during kidney and brain development.
Sources: Literature
Renal Ciliopathies and Nephronophthisis v0.50 KIF14 Chirag Patel Classified gene: KIF14 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.50 KIF14 Chirag Patel Gene: kif14 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.49 KIF14 Chirag Patel reviewed gene: KIF14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Ciliopathies and Nephronophthisis v0.49 IFT81 Chirag Patel changed review comment from: 1 patient with homozygous mutation in IFT81 affecting an obligatory donor splice site with nephronophthisis and polydactyly.; to: 1 patient with homozygous mutation in IFT81 affecting an obligatory donor splice site with nephronophthisis and polydactyly. So not a true renal ciliopathy.
Renal Ciliopathies and Nephronophthisis v0.49 IFT81 Chirag Patel Classified gene: IFT81 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.49 IFT81 Chirag Patel Gene: ift81 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.48 IFT81 Chirag Patel reviewed gene: IFT81: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 26275418; Phenotypes: Short-rib thoracic dysplasia 19 with or without polydactyly, OMIM #617895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.48 IFT74 Zornitza Stark Marked gene: IFT74 as ready
Renal Ciliopathies and Nephronophthisis v0.48 IFT74 Zornitza Stark Gene: ift74 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.48 IFT74 Zornitza Stark Phenotypes for gene: IFT74 were changed from to Bardet-Biedl syndrome 20 617119
Renal Ciliopathies and Nephronophthisis v0.47 IFT74 Zornitza Stark Publications for gene: IFT74 were set to
Renal Ciliopathies and Nephronophthisis v0.46 IFT74 Zornitza Stark Mode of inheritance for gene: IFT74 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.45 IFT74 Zornitza Stark Classified gene: IFT74 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.45 IFT74 Zornitza Stark Gene: ift74 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.44 IFT74 Zornitza Stark reviewed gene: IFT74: Rating: AMBER; Mode of pathogenicity: None; Publications: 27486776; Phenotypes: Bardet-Biedl syndrome 20 617119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.44 IFT57 Chirag Patel Classified gene: IFT57 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.44 IFT57 Chirag Patel Gene: ift57 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.43 IFT57 Chirag Patel reviewed gene: IFT57: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Ciliopathies and Nephronophthisis v0.43 GLIS2 Chirag Patel Classified gene: GLIS2 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.43 GLIS2 Chirag Patel Gene: glis2 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.43 GLIS2 Chirag Patel Classified gene: GLIS2 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.43 GLIS2 Chirag Patel Gene: glis2 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.42 GLIS2 Chirag Patel reviewed gene: GLIS2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 17618285, 23559409; Phenotypes: Nephronophthisis 7, OMIM#611498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.42 FOXC1 Chirag Patel Classified gene: FOXC1 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.42 FOXC1 Chirag Patel Gene: foxc1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.41 FOXC1 Chirag Patel reviewed gene: FOXC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Ciliopathies and Nephronophthisis v0.41 DCDC2 Zornitza Stark Marked gene: DCDC2 as ready
Renal Ciliopathies and Nephronophthisis v0.41 DCDC2 Zornitza Stark Gene: dcdc2 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.41 EVC2 Zornitza Stark Marked gene: EVC2 as ready
Renal Ciliopathies and Nephronophthisis v0.41 EVC2 Zornitza Stark Gene: evc2 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.41 EVC Chirag Patel Classified gene: EVC as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.41 EVC Chirag Patel Gene: evc has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.41 EVC2 Zornitza Stark Phenotypes for gene: EVC2 were changed from to Ellis van Creveld syndrome
Renal Ciliopathies and Nephronophthisis v0.40 EVC Chirag Patel reviewed gene: EVC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.40 EVC2 Zornitza Stark Mode of inheritance for gene: EVC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.39 EVC2 Zornitza Stark Classified gene: EVC2 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.39 EVC2 Zornitza Stark Gene: evc2 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.38 EVC2 Zornitza Stark reviewed gene: EVC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis van Creveld syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.38 DCDC2 Zornitza Stark Phenotypes for gene: DCDC2 were changed from to Nephronophthisis 19, MIM# 616217
Renal Ciliopathies and Nephronophthisis v0.37 DCDC2 Zornitza Stark Publications for gene: DCDC2 were set to
Renal Ciliopathies and Nephronophthisis v0.36 DCDC2 Zornitza Stark Mode of inheritance for gene: DCDC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.35 DCDC2 Zornitza Stark Classified gene: DCDC2 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.35 DCDC2 Zornitza Stark Gene: dcdc2 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.34 DCDC2 Zornitza Stark reviewed gene: DCDC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25557784; Phenotypes: Nephronophthisis 19, MIM# 616217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.34 CEP120 Chirag Patel Classified gene: CEP120 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.34 CEP120 Chirag Patel Gene: cep120 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.33 CEP120 Chirag Patel reviewed gene: CEP120: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 25361962; Phenotypes: Joubert syndrome 31, OMIM #617761, Short-rib thoracic dysplasia 13 with or without polydactyly, OMIM #616300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.33 C2CD3 Chirag Patel Classified gene: C2CD3 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.33 C2CD3 Chirag Patel Gene: c2cd3 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.32 C2CD3 Chirag Patel changed review comment from: Renal phenotype not commonly seen in this group.; to: Renal phenotype not commonly seen in this ciliopathy, so not a renal ciliopathy
Renal Ciliopathies and Nephronophthisis v0.32 C2CD3 Chirag Patel reviewed gene: C2CD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Ciliopathies and Nephronophthisis v0.32 B9D1 Chirag Patel Classified gene: B9D1 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.32 B9D1 Chirag Patel Gene: b9d1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.31 B9D1 Chirag Patel reviewed gene: B9D1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Meckel syndrome 9, OMIM #614209, Joubert syndrome 27, OMIM #617120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Haematuria_Alport v0.13 CD151 Zornitza Stark Marked gene: CD151 as ready
Haematuria_Alport v0.13 CD151 Zornitza Stark Gene: cd151 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.13 CD151 Zornitza Stark Phenotypes for gene: CD151 were changed from to Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057
Haematuria_Alport v0.12 CD151 Zornitza Stark Publications for gene: CD151 were set to 15265795; 29138120
Haematuria_Alport v0.11 CD151 Zornitza Stark Mode of inheritance for gene: CD151 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Haematuria_Alport v0.11 OCRL Chirag Patel Classified gene: OCRL as Red List (low evidence)
Haematuria_Alport v0.11 OCRL Chirag Patel Gene: ocrl has been classified as Red List (Low Evidence).
Haematuria_Alport v0.10 OCRL Chirag Patel Classified gene: OCRL as Red List (low evidence)
Haematuria_Alport v0.10 OCRL Chirag Patel Gene: ocrl has been classified as Red List (Low Evidence).
Haematuria_Alport v0.10 CD151 Zornitza Stark Classified gene: CD151 as Red List (low evidence)
Haematuria_Alport v0.10 CD151 Zornitza Stark Gene: cd151 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.10 CD151 Zornitza Stark Publications for gene: CD151 were set to
Haematuria_Alport v0.9 CD151 Zornitza Stark Mode of inheritance for gene: CD151 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Haematuria_Alport v0.9 CD151 Zornitza Stark Classified gene: CD151 as Red List (low evidence)
Haematuria_Alport v0.9 CD151 Zornitza Stark Gene: cd151 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.8 OCRL Chirag Patel reviewed gene: OCRL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.569 PIGQ Zornitza Stark Marked gene: PIGQ as ready
Mendeliome v0.569 PIGQ Zornitza Stark Gene: pigq has been classified as Green List (High Evidence).
Mendeliome v0.569 PIGQ Zornitza Stark Classified gene: PIGQ as Green List (high evidence)
Mendeliome v0.569 PIGQ Zornitza Stark Gene: pigq has been classified as Green List (High Evidence).
Mendeliome v0.568 PIGQ Zornitza Stark gene: PIGQ was added
gene: PIGQ was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: PIGQ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGQ were set to 25558065; 24463883; 31148362
Phenotypes for gene: PIGQ were set to Epileptic encephalopathy, early infantile, 77, MIM# 618548
Review for gene: PIGQ was set to GREEN
Added comment: Three unrelated families reported.
Sources: Expert list
Genetic Epilepsy v0.84 PIGQ Zornitza Stark Marked gene: PIGQ as ready
Genetic Epilepsy v0.84 PIGQ Zornitza Stark Gene: pigq has been classified as Green List (High Evidence).
Genetic Epilepsy v0.84 PIGQ Zornitza Stark Classified gene: PIGQ as Green List (high evidence)
Genetic Epilepsy v0.84 PIGQ Zornitza Stark Gene: pigq has been classified as Green List (High Evidence).
Genetic Epilepsy v0.83 PIGQ Zornitza Stark gene: PIGQ was added
gene: PIGQ was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: PIGQ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGQ were set to 25558065; 24463883; 31148362
Phenotypes for gene: PIGQ were set to Epileptic encephalopathy, early infantile, 77, MIM# 618548
Review for gene: PIGQ was set to GREEN
Added comment: Three unrelated families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1466 NTRK2 Zornitza Stark Marked gene: NTRK2 as ready
Intellectual disability syndromic and non-syndromic v0.1466 NTRK2 Zornitza Stark Gene: ntrk2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1466 NTRK2 Zornitza Stark Classified gene: NTRK2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1466 NTRK2 Zornitza Stark Gene: ntrk2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1465 NTRK2 Zornitza Stark gene: NTRK2 was added
gene: NTRK2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: NTRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NTRK2 were set to 15494731; 27884935; 29100083
Phenotypes for gene: NTRK2 were set to Obesity, hyperphagia, and developmental delay, MIM# 613886
Review for gene: NTRK2 was set to GREEN
Added comment: Three unrelated individuals reported with this phenotype.
Note recurrent missense in this gene also causes EE.
Sources: Expert list
Mendeliome v0.567 NTRK2 Zornitza Stark Marked gene: NTRK2 as ready
Mendeliome v0.567 NTRK2 Zornitza Stark Gene: ntrk2 has been classified as Green List (High Evidence).
Mendeliome v0.567 NTRK2 Zornitza Stark Phenotypes for gene: NTRK2 were changed from to Epileptic encephalopathy, early infantile, 58, MIM# 617830; Obesity, hyperphagia, and developmental delay, MIM# 613886
Mendeliome v0.567 NTRK2 Zornitza Stark Publications for gene: NTRK2 were set to
Mendeliome v0.566 NTRK2 Zornitza Stark Mode of inheritance for gene: NTRK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.565 NTRK2 Zornitza Stark reviewed gene: NTRK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100083, 15494731, 27884935, 29100083; Phenotypes: Epileptic encephalopathy, early infantile, 58, MIM# 617830, Obesity, hyperphagia, and developmental delay, MIM# 613886; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.82 NTRK2 Zornitza Stark Marked gene: NTRK2 as ready
Genetic Epilepsy v0.82 NTRK2 Zornitza Stark Gene: ntrk2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.82 NTRK2 Zornitza Stark Classified gene: NTRK2 as Green List (high evidence)
Genetic Epilepsy v0.82 NTRK2 Zornitza Stark Gene: ntrk2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.81 NTRK2 Zornitza Stark gene: NTRK2 was added
gene: NTRK2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: NTRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NTRK2 were set to 29100083
Phenotypes for gene: NTRK2 were set to Epileptic encephalopathy, early infantile, 58, MIM# 617830
Review for gene: NTRK2 was set to GREEN
Added comment: Four unrelated individuals with recurrent de novo missense variant in this gene reported.
Sources: Expert list
Mendeliome v0.565 ADAM22 Zornitza Stark gene: ADAM22 was added
gene: ADAM22 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: ADAM22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAM22 were set to 27066583; 30237576
Phenotypes for gene: ADAM22 were set to Epileptic encephalopathy, early infantile, 61, MIM# 617933
Review for gene: ADAM22 was set to AMBER
Added comment: Two families reported; the second one as part of a large consanguineous cohort.
Sources: Expert list
Genetic Epilepsy v0.80 ADAM22 Zornitza Stark Classified gene: ADAM22 as Amber List (moderate evidence)
Genetic Epilepsy v0.80 ADAM22 Zornitza Stark Gene: adam22 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.79 ADAM22 Zornitza Stark gene: ADAM22 was added
gene: ADAM22 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: ADAM22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAM22 were set to 27066583; 30237576
Phenotypes for gene: ADAM22 were set to Epileptic encephalopathy, early infantile, 61, MIM# 617933
Review for gene: ADAM22 was set to AMBER
Added comment: Two families reported; the second one as part of a large consanguineous cohort.
Sources: Expert list
Mendeliome v0.564 PHACTR1 Zornitza Stark Marked gene: PHACTR1 as ready
Mendeliome v0.564 PHACTR1 Zornitza Stark Gene: phactr1 has been classified as Green List (High Evidence).
Mendeliome v0.564 PHACTR1 Zornitza Stark Classified gene: PHACTR1 as Green List (high evidence)
Mendeliome v0.564 PHACTR1 Zornitza Stark Gene: phactr1 has been classified as Green List (High Evidence).
Mendeliome v0.563 PHACTR1 Zornitza Stark gene: PHACTR1 was added
gene: PHACTR1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: PHACTR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHACTR1 were set to 30256902
Phenotypes for gene: PHACTR1 were set to Epileptic encephalopathy, early infantile, 70, MIM# 618298
Review for gene: PHACTR1 was set to GREEN
Added comment: Three unrelated individuals reported with de novo variants in this gene.
Sources: Expert list
Genetic Epilepsy v0.78 PHACTR1 Zornitza Stark Marked gene: PHACTR1 as ready
Genetic Epilepsy v0.78 PHACTR1 Zornitza Stark Gene: phactr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.78 PHACTR1 Zornitza Stark Classified gene: PHACTR1 as Green List (high evidence)
Genetic Epilepsy v0.78 PHACTR1 Zornitza Stark Gene: phactr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.77 PHACTR1 Zornitza Stark Classified gene: PHACTR1 as Green List (high evidence)
Genetic Epilepsy v0.77 PHACTR1 Zornitza Stark Gene: phactr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.76 PHACTR1 Zornitza Stark gene: PHACTR1 was added
gene: PHACTR1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: PHACTR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHACTR1 were set to 23033978; 30256902
Phenotypes for gene: PHACTR1 were set to Epileptic encephalopathy, early infantile, 70, MIM# 618298
Review for gene: PHACTR1 was set to GREEN
Added comment: Three unrelated individuals reported with de novo variants in this gene.
Sources: Expert list
Mendeliome v0.562 GABRB1 Zornitza Stark Marked gene: GABRB1 as ready
Mendeliome v0.562 GABRB1 Zornitza Stark Gene: gabrb1 has been classified as Green List (High Evidence).
Mendeliome v0.562 GABRB1 Zornitza Stark Classified gene: GABRB1 as Green List (high evidence)
Mendeliome v0.562 GABRB1 Zornitza Stark Gene: gabrb1 has been classified as Green List (High Evidence).
Mendeliome v0.561 GABRB1 Zornitza Stark gene: GABRB1 was added
gene: GABRB1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: GABRB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRB1 were set to 23934111; 27273810; 31618474
Phenotypes for gene: GABRB1 were set to Epileptic encephalopathy, early infantile, 45, MIM# 617153
Review for gene: GABRB1 was set to GREEN
Added comment: Three individuals reported, two as part of large epilepsy cohorts.
Sources: Expert list
Genetic Epilepsy v0.75 GABRB1 Zornitza Stark Marked gene: GABRB1 as ready
Genetic Epilepsy v0.75 GABRB1 Zornitza Stark Gene: gabrb1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.75 GABRB1 Zornitza Stark Classified gene: GABRB1 as Green List (high evidence)
Genetic Epilepsy v0.75 GABRB1 Zornitza Stark Gene: gabrb1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.74 GABRB1 Zornitza Stark gene: GABRB1 was added
gene: GABRB1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: GABRB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRB1 were set to 23934111; 27273810; 31618474
Phenotypes for gene: GABRB1 were set to Epileptic encephalopathy, early infantile, 45, MIM# 617153
Review for gene: GABRB1 was set to GREEN
Added comment: Three individuals reported, two as part of large epilepsy cohorts.
Sources: Expert list
Mendeliome v0.560 GABRA2 Zornitza Stark Marked gene: GABRA2 as ready
Mendeliome v0.560 GABRA2 Zornitza Stark Gene: gabra2 has been classified as Green List (High Evidence).
Mendeliome v0.560 GABRA2 Zornitza Stark Phenotypes for gene: GABRA2 were changed from to Epileptic encephalopathy, early infantile, 78, MIM# 618557
Mendeliome v0.559 GABRA2 Zornitza Stark Publications for gene: GABRA2 were set to
Mendeliome v0.558 GABRA2 Zornitza Stark Mode of inheritance for gene: GABRA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.557 GABRA2 Zornitza Stark reviewed gene: GABRA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29422393; Phenotypes: Epileptic encephalopathy, early infantile, 78, MIM# 618557; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.73 GABRA2 Zornitza Stark Marked gene: GABRA2 as ready
Genetic Epilepsy v0.73 GABRA2 Zornitza Stark Gene: gabra2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.73 GABRA2 Zornitza Stark Classified gene: GABRA2 as Green List (high evidence)
Genetic Epilepsy v0.73 GABRA2 Zornitza Stark Gene: gabra2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.72 GABRA2 Zornitza Stark gene: GABRA2 was added
gene: GABRA2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: GABRA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRA2 were set to 29961870; 31032849; 29422393
Phenotypes for gene: GABRA2 were set to Epileptic encephalopathy, early infantile, 78, MIM# 618557
Review for gene: GABRA2 was set to GREEN
Added comment: Five unrelated individuals reported in three publications.
Sources: Expert list
Mendeliome v0.557 GUF1 Zornitza Stark Marked gene: GUF1 as ready
Mendeliome v0.557 GUF1 Zornitza Stark Gene: guf1 has been classified as Red List (Low Evidence).
Mendeliome v0.557 GUF1 Zornitza Stark gene: GUF1 was added
gene: GUF1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: GUF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GUF1 were set to 26486472
Phenotypes for gene: GUF1 were set to Epileptic encephalopathy, early infantile, 40, MIM# 617065
Review for gene: GUF1 was set to RED
Added comment: Single family reported with homozygous missense in three sibs.
Sources: Expert list
Genetic Epilepsy v0.71 GUF1 Zornitza Stark Marked gene: GUF1 as ready
Genetic Epilepsy v0.71 GUF1 Zornitza Stark Gene: guf1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.71 GUF1 Zornitza Stark gene: GUF1 was added
gene: GUF1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: GUF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GUF1 were set to 26486472
Phenotypes for gene: GUF1 were set to Epileptic encephalopathy, early infantile, 40, MIM# 617065
Review for gene: GUF1 was set to RED
Added comment: Single family reported with homozygous missense in three sibs.
Sources: Expert list
Mendeliome v0.556 CPLX1 Zornitza Stark Marked gene: CPLX1 as ready
Mendeliome v0.556 CPLX1 Zornitza Stark Gene: cplx1 has been classified as Green List (High Evidence).
Mendeliome v0.556 CPLX1 Zornitza Stark Classified gene: CPLX1 as Green List (high evidence)
Mendeliome v0.556 CPLX1 Zornitza Stark Gene: cplx1 has been classified as Green List (High Evidence).
Mendeliome v0.555 CPLX1 Zornitza Stark gene: CPLX1 was added
gene: CPLX1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: CPLX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPLX1 were set to 26539891; 28422131
Phenotypes for gene: CPLX1 were set to Epileptic encephalopathy, early infantile, 63, MIM# 617976
Review for gene: CPLX1 was set to GREEN
Added comment: Five individuals from three unrelated families reported in larger neurodevelopmental cohorts.
Sources: Expert list
Genetic Epilepsy v0.70 CPLX1 Zornitza Stark Marked gene: CPLX1 as ready
Genetic Epilepsy v0.70 CPLX1 Zornitza Stark Gene: cplx1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.70 CPLX1 Zornitza Stark Classified gene: CPLX1 as Green List (high evidence)
Genetic Epilepsy v0.70 CPLX1 Zornitza Stark Gene: cplx1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.69 CPLX1 Zornitza Stark gene: CPLX1 was added
gene: CPLX1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: CPLX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPLX1 were set to 26539891; 28422131
Phenotypes for gene: CPLX1 were set to Epileptic encephalopathy, early infantile, 63, MIM# 617976
Review for gene: CPLX1 was set to GREEN
Added comment: Five individuals from three unrelated families reported in larger neurodevelopmental cohorts.
Sources: Expert list
Regression v0.41 RNF13 Zornitza Stark Marked gene: RNF13 as ready
Regression v0.41 RNF13 Zornitza Stark Gene: rnf13 has been classified as Green List (High Evidence).
Regression v0.41 RNF13 Zornitza Stark Classified gene: RNF13 as Green List (high evidence)
Regression v0.41 RNF13 Zornitza Stark Gene: rnf13 has been classified as Green List (High Evidence).
Mendeliome v0.554 RNF13 Zornitza Stark Marked gene: RNF13 as ready
Mendeliome v0.554 RNF13 Zornitza Stark Gene: rnf13 has been classified as Green List (High Evidence).
Regression v0.40 RNF13 Zornitza Stark gene: RNF13 was added
gene: RNF13 was added to Regression_VCGS. Sources: Literature
Mode of inheritance for gene: RNF13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNF13 were set to 30595371
Phenotypes for gene: RNF13 were set to Epileptic encephalopathy, early infantile, 73, MIM# 618379
Mode of pathogenicity for gene: RNF13 was set to Other
Review for gene: RNF13 was set to GREEN
Added comment: Three unrelated individuals with de novo gain-of-function variants in this gene reported; severe neurodegenerative disorder, seizures are a prominent part of the phenotype.
Sources: Literature
Mendeliome v0.554 RNF13 Zornitza Stark Classified gene: RNF13 as Green List (high evidence)
Mendeliome v0.554 RNF13 Zornitza Stark Gene: rnf13 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.68 RNF13 Zornitza Stark Marked gene: RNF13 as ready
Genetic Epilepsy v0.68 RNF13 Zornitza Stark Gene: rnf13 has been classified as Green List (High Evidence).
Mendeliome v0.553 RNF13 Zornitza Stark gene: RNF13 was added
gene: RNF13 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: RNF13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNF13 were set to 30595371
Phenotypes for gene: RNF13 were set to Epileptic encephalopathy, early infantile, 73, MIM# 618379
Mode of pathogenicity for gene: RNF13 was set to Other
Review for gene: RNF13 was set to GREEN
Added comment: Three unrelated individuals with de novo gain-of-function variants in this gene reported; severe neurodegenerative disorder, seizures are a prominent part of the phenotype.
Sources: Literature
Genetic Epilepsy v0.68 RNF13 Zornitza Stark Classified gene: RNF13 as Green List (high evidence)
Genetic Epilepsy v0.68 RNF13 Zornitza Stark Gene: rnf13 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.67 RNF13 Zornitza Stark Classified gene: RNF13 as Green List (high evidence)
Genetic Epilepsy v0.67 RNF13 Zornitza Stark Gene: rnf13 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.66 RNF13 Zornitza Stark gene: RNF13 was added
gene: RNF13 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: RNF13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNF13 were set to 30595371
Phenotypes for gene: RNF13 were set to Epileptic encephalopathy, early infantile, 73, MIM# 618379
Mode of pathogenicity for gene: RNF13 was set to Other
Review for gene: RNF13 was set to GREEN
Added comment: Three unrelated individuals with de novo gain-of-function variants in this gene reported; severe neurodegenerative disorder, seizures are a prominent part of the phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1464 GLS Zornitza Stark Marked gene: GLS as ready
Intellectual disability syndromic and non-syndromic v0.1464 GLS Zornitza Stark Gene: gls has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1464 GLS Zornitza Stark Classified gene: GLS as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1464 GLS Zornitza Stark Gene: gls has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1463 GLS Zornitza Stark gene: GLS was added
gene: GLS was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLS were set to 30970188
Phenotypes for gene: GLS were set to Global developmental delay, progressive ataxia, and elevated glutamine, MIM# 618412
Review for gene: GLS was set to AMBER
Added comment: Three unrelated individuals described with compound het variants, however, note one of these is a triplet expansion in the 5' UTR, this may not be tractable depending on sequencing modality.
Sources: Literature
Mendeliome v0.552 GLS Zornitza Stark Marked gene: GLS as ready
Mendeliome v0.552 GLS Zornitza Stark Gene: gls has been classified as Green List (High Evidence).
Mendeliome v0.552 GLS Zornitza Stark Classified gene: GLS as Green List (high evidence)
Mendeliome v0.552 GLS Zornitza Stark Gene: gls has been classified as Green List (High Evidence).
Mendeliome v0.551 GLS Zornitza Stark gene: GLS was added
gene: GLS was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLS were set to 30575854; 30970188
Phenotypes for gene: GLS were set to Epileptic encephalopathy, early infantile, 71, MIM# 618328; Global developmental delay, progressive ataxia, and elevated glutamine, MIM# 618412
Review for gene: GLS was set to GREEN
Added comment: Three individuals from two unrelated families reported with early neonatal refractory seizures, structural brain abnormalities and oedema; significantly increased glutamine levels (PMID: 30575854).

Another three unrelated individuals described with compound het variants, one of which is a triplet expansion in the 5' UTR (PMID: 30970188).
Sources: Expert list
Genetic Epilepsy v0.65 GLS Zornitza Stark Marked gene: GLS as ready
Genetic Epilepsy v0.65 GLS Zornitza Stark Gene: gls has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.65 GLS Zornitza Stark Classified gene: GLS as Amber List (moderate evidence)
Genetic Epilepsy v0.65 GLS Zornitza Stark Gene: gls has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.64 GLS Zornitza Stark gene: GLS was added
gene: GLS was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLS were set to 30575854
Phenotypes for gene: GLS were set to Epileptic encephalopathy, early infantile, 71, MIM# 618328
Review for gene: GLS was set to AMBER
Added comment: Three individuals from two unrelated families reported with early neonatal refractory seizures, structural brain abnormalities and oedema; significantly increased glutamine levels.
Sources: Expert list
Regression v0.39 CAD Zornitza Stark Marked gene: CAD as ready
Regression v0.39 CAD Zornitza Stark Gene: cad has been classified as Green List (High Evidence).
Regression v0.39 CAD Zornitza Stark Classified gene: CAD as Green List (high evidence)
Regression v0.39 CAD Zornitza Stark Gene: cad has been classified as Green List (High Evidence).
Regression v0.38 CAD Zornitza Stark gene: CAD was added
gene: CAD was added to Regression_VCGS. Sources: Expert list
Mode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAD were set to 28007989; 25678555
Phenotypes for gene: CAD were set to Epileptic encephalopathy, early infantile, 50, MIM# 616457
Review for gene: CAD was set to GREEN
Added comment: Five individuals from four unrelated families reported, seizures are a prominent part of the phenotype of this progressive neurometabolic condition.
Sources: Expert list
Mendeliome v0.550 CAD Zornitza Stark Marked gene: CAD as ready
Mendeliome v0.550 CAD Zornitza Stark Gene: cad has been classified as Green List (High Evidence).
Mendeliome v0.550 CAD Zornitza Stark Classified gene: CAD as Green List (high evidence)
Mendeliome v0.550 CAD Zornitza Stark Gene: cad has been classified as Green List (High Evidence).
Mendeliome v0.549 CAD Zornitza Stark gene: CAD was added
gene: CAD was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAD were set to 28007989; 25678555
Phenotypes for gene: CAD were set to Epileptic encephalopathy, early infantile, 50, MIM# 616457
Review for gene: CAD was set to GREEN
Added comment: Five individuals from four unrelated families reported, seizures are a prominent part of the phenotype of this progressive neurometabolic condition.
Sources: Expert list
Genetic Epilepsy v0.63 CAD Zornitza Stark Marked gene: CAD as ready
Genetic Epilepsy v0.63 CAD Zornitza Stark Gene: cad has been classified as Green List (High Evidence).
Genetic Epilepsy v0.63 CAD Zornitza Stark Classified gene: CAD as Green List (high evidence)
Genetic Epilepsy v0.63 CAD Zornitza Stark Gene: cad has been classified as Green List (High Evidence).
Genetic Epilepsy v0.62 CAD Zornitza Stark gene: CAD was added
gene: CAD was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAD were set to 28007989; 25678555
Phenotypes for gene: CAD were set to Epileptic encephalopathy, early infantile, 50, MIM# 616457
Review for gene: CAD was set to GREEN
Added comment: Five individuals from four unrelated families reported, seizures are a prominent part of the phenotype of this progressive neurometabolic condition.
Sources: Expert list
Mendeliome v0.548 PARS2 Zornitza Stark Marked gene: PARS2 as ready
Mendeliome v0.548 PARS2 Zornitza Stark Gene: pars2 has been classified as Green List (High Evidence).
Mendeliome v0.548 PARS2 Zornitza Stark Phenotypes for gene: PARS2 were changed from to Epileptic encephalopathy, early infantile, 75, MIM# 618437
Mendeliome v0.547 PARS2 Zornitza Stark Publications for gene: PARS2 were set to
Mendeliome v0.546 PARS2 Zornitza Stark Mode of inheritance for gene: PARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.545 PARS2 Zornitza Stark reviewed gene: PARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29410512, 28077841, 25629079, 29915213; Phenotypes: Epileptic encephalopathy, early infantile, 75, MIM# 618437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.31 PARS2 Zornitza Stark Marked gene: PARS2 as ready
Mitochondrial disease v0.31 PARS2 Zornitza Stark Gene: pars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.31 PARS2 Zornitza Stark Phenotypes for gene: PARS2 were changed from to Epileptic encephalopathy, early infantile, 75, MIM# 618437
Mitochondrial disease v0.30 PARS2 Zornitza Stark Publications for gene: PARS2 were set to
Mitochondrial disease v0.29 PARS2 Zornitza Stark Mode of inheritance for gene: PARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.28 PARS2 Zornitza Stark reviewed gene: PARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29410512, 28077841, 25629079, 29915213; Phenotypes: Epileptic encephalopathy, early infantile, 75, MIM# 618437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.61 PARS2 Zornitza Stark Marked gene: PARS2 as ready
Genetic Epilepsy v0.61 PARS2 Zornitza Stark Gene: pars2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.61 PARS2 Zornitza Stark Classified gene: PARS2 as Green List (high evidence)
Genetic Epilepsy v0.61 PARS2 Zornitza Stark Gene: pars2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.60 PARS2 Zornitza Stark gene: PARS2 was added
gene: PARS2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: PARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PARS2 were set to 29410512; 28077841; 25629079; 29915213
Phenotypes for gene: PARS2 were set to Epileptic encephalopathy, early infantile, 75, MIM# 618437
Review for gene: PARS2 was set to GREEN
Added comment: Eight individuals from four unrelated families reported; seizures are a prominent part of the phenotype.
Sources: Expert list
Mendeliome v0.545 CHRNA3 Zornitza Stark Marked gene: CHRNA3 as ready
Mendeliome v0.545 CHRNA3 Zornitza Stark Gene: chrna3 has been classified as Green List (High Evidence).
Mendeliome v0.545 CHRNA3 Zornitza Stark Phenotypes for gene: CHRNA3 were changed from to CAKUT; dysautonomia
Mendeliome v0.544 CHRNA3 Zornitza Stark Publications for gene: CHRNA3 were set to
Mendeliome v0.543 CHRNA3 Zornitza Stark Mode of inheritance for gene: CHRNA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.542 CHRNA3 Zornitza Stark reviewed gene: CHRNA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31708116; Phenotypes: CAKUT, dysautonomia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.20 CHRNA3 Zornitza Stark Marked gene: CHRNA3 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.20 CHRNA3 Zornitza Stark Gene: chrna3 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.20 CHRNA3 Zornitza Stark Classified gene: CHRNA3 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.20 CHRNA3 Zornitza Stark Gene: chrna3 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.19 CHRNA3 Zornitza Stark gene: CHRNA3 was added
gene: CHRNA3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Literature
Mode of inheritance for gene: CHRNA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRNA3 were set to 31708116
Phenotypes for gene: CHRNA3 were set to CAKUT; dysautonomia
Review for gene: CHRNA3 was set to GREEN
Added comment: Five affected individuals from three unrelated families.
Sources: Literature
Mendeliome v0.542 NADSYN1 Zornitza Stark Marked gene: NADSYN1 as ready
Mendeliome v0.542 NADSYN1 Zornitza Stark Gene: nadsyn1 has been classified as Green List (High Evidence).
Mendeliome v0.542 NADSYN1 Zornitza Stark Classified gene: NADSYN1 as Green List (high evidence)
Mendeliome v0.542 NADSYN1 Zornitza Stark Gene: nadsyn1 has been classified as Green List (High Evidence).
Mendeliome v0.541 NADSYN1 Zornitza Stark gene: NADSYN1 was added
gene: NADSYN1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NADSYN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NADSYN1 were set to 31883644
Phenotypes for gene: NADSYN1 were set to Multiple congenital abnormalities; absent kidneys; cardiac; limb; vertebral
Review for gene: NADSYN1 was set to GREEN
Added comment: Five individuals from four unrelated families.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.32 NADSYN1 Zornitza Stark Marked gene: NADSYN1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.32 NADSYN1 Zornitza Stark Gene: nadsyn1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.32 NADSYN1 Zornitza Stark Classified gene: NADSYN1 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.32 NADSYN1 Zornitza Stark Gene: nadsyn1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.31 NADSYN1 Zornitza Stark gene: NADSYN1 was added
gene: NADSYN1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Literature
Mode of inheritance for gene: NADSYN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NADSYN1 were set to 31883644
Phenotypes for gene: NADSYN1 were set to Multiple congenital abnormalities; absent kidneys; cardiac; limb; vertebral
Review for gene: NADSYN1 was set to GREEN
Added comment: Five individuals from four unrelated families.
Sources: Literature
Mendeliome v0.540 PPP1R12A Zornitza Stark Marked gene: PPP1R12A as ready
Mendeliome v0.540 PPP1R12A Zornitza Stark Added comment: Comment when marking as ready: Now published, 12 individuals, upgraded to Green.
Mendeliome v0.540 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Green List (High Evidence).
Mendeliome v0.540 PPP1R12A Zornitza Stark Phenotypes for gene: PPP1R12A were changed from to Intellectual disability; holoprosencephaly; disorder of sex development
Mendeliome v0.539 PPP1R12A Zornitza Stark Publications for gene: PPP1R12A were set to
Mendeliome v0.538 PPP1R12A Zornitza Stark Mode of inheritance for gene: PPP1R12A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1462 PPP1R12A Zornitza Stark Marked gene: PPP1R12A as ready
Intellectual disability syndromic and non-syndromic v0.1462 PPP1R12A Zornitza Stark Added comment: Comment when marking as ready: Now published, 12 individuals, upgraded to Green.
Intellectual disability syndromic and non-syndromic v0.1462 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1462 PPP1R12A Zornitza Stark Publications for gene: PPP1R12A were set to
Intellectual disability syndromic and non-syndromic v0.1461 PPP1R12A Zornitza Stark Classified gene: PPP1R12A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1461 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.5 PPP1R12A Zornitza Stark Marked gene: PPP1R12A as ready
Holoprosencephaly and septo-optic dysplasia v0.5 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.5 PPP1R12A Zornitza Stark Publications for gene: PPP1R12A were set to
Holoprosencephaly and septo-optic dysplasia v0.4 PPP1R12A Zornitza Stark Classified gene: PPP1R12A as Green List (high evidence)
Holoprosencephaly and septo-optic dysplasia v0.4 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Green List (High Evidence).
Differences of Sex Development v0.5 PPP1R12A Zornitza Stark Marked gene: PPP1R12A as ready
Differences of Sex Development v0.5 PPP1R12A Zornitza Stark Added comment: Comment when marking as ready: Now published; 12 individuals, upgraded to Green.
Differences of Sex Development v0.5 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Green List (High Evidence).
Differences of Sex Development v0.5 PPP1R12A Zornitza Stark Classified gene: PPP1R12A as Green List (high evidence)
Differences of Sex Development v0.5 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy_HCM v0.4 UQCRFS1 Zornitza Stark Marked gene: UQCRFS1 as ready
Hypertrophic cardiomyopathy_HCM v0.4 UQCRFS1 Zornitza Stark Gene: uqcrfs1 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy_HCM v0.4 UQCRFS1 Zornitza Stark Classified gene: UQCRFS1 as Green List (high evidence)
Hypertrophic cardiomyopathy_HCM v0.4 UQCRFS1 Zornitza Stark Gene: uqcrfs1 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy_HCM v0.3 UQCRFS1 Zornitza Stark gene: UQCRFS1 was added
gene: UQCRFS1 was added to Hypertrophic cardiomyopathy_VCGS. Sources: Literature
Mode of inheritance for gene: UQCRFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCRFS1 were set to 31883641
Phenotypes for gene: UQCRFS1 were set to Mitochondrial Complex III deficiency; lactic acidosis; fetal bradycardia; hypertrophic cardiomyopathy; alopecia totalis
Review for gene: UQCRFS1 was set to GREEN
Added comment: Two unrelated families reported plus functional evidence.
Sources: Literature
Mendeliome v0.537 UQCRFS1 Zornitza Stark Marked gene: UQCRFS1 as ready
Mendeliome v0.537 UQCRFS1 Zornitza Stark Gene: uqcrfs1 has been classified as Green List (High Evidence).
Mendeliome v0.537 UQCRFS1 Zornitza Stark Classified gene: UQCRFS1 as Green List (high evidence)
Mendeliome v0.537 UQCRFS1 Zornitza Stark Gene: uqcrfs1 has been classified as Green List (High Evidence).
Mendeliome v0.536 UQCRFS1 Zornitza Stark gene: UQCRFS1 was added
gene: UQCRFS1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: UQCRFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCRFS1 were set to 31883641
Phenotypes for gene: UQCRFS1 were set to Mitochondrial Complex III deficiency; lactic acidosis; fetal bradycardia; hypertrophic cardiomyopathy; alopecia totalis
Review for gene: UQCRFS1 was set to GREEN
Added comment: Two unrelated families reported plus functional evidence.
Sources: Literature
Mitochondrial disease v0.28 UQCRFS1 Zornitza Stark Marked gene: UQCRFS1 as ready
Mitochondrial disease v0.28 UQCRFS1 Zornitza Stark Gene: uqcrfs1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.28 UQCRFS1 Zornitza Stark Classified gene: UQCRFS1 as Green List (high evidence)
Mitochondrial disease v0.28 UQCRFS1 Zornitza Stark Gene: uqcrfs1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.27 UQCRFS1 Zornitza Stark gene: UQCRFS1 was added
gene: UQCRFS1 was added to Mitochondrial_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: UQCRFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCRFS1 were set to 31883641
Phenotypes for gene: UQCRFS1 were set to Mitochondrial Complex III deficiency; lactic acidosis; fetal bradycardia; hypertrophic cardiomyopathy; alopecia totalis
Review for gene: UQCRFS1 was set to GREEN
Added comment: Two unrelated families reported plus functional evidence.
Sources: Literature
Deafness_IsolatedAndComplex v0.222 TSPEAR Zornitza Stark Marked gene: TSPEAR as ready
Deafness_IsolatedAndComplex v0.222 TSPEAR Zornitza Stark Gene: tspear has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.222 TSPEAR Zornitza Stark Phenotypes for gene: TSPEAR were changed from Deafness, autosomal recessive 98, MIM#614861 to Deafness, autosomal recessive 98, MIM#614861
Deafness_IsolatedAndComplex v0.221 TSPEAR Zornitza Stark Phenotypes for gene: TSPEAR were changed from to Deafness, autosomal recessive 98, MIM#614861
Deafness_IsolatedAndComplex v0.220 TSPEAR Zornitza Stark Publications for gene: TSPEAR were set to
Deafness_IsolatedAndComplex v0.220 TSPEAR Zornitza Stark Mode of inheritance for gene: TSPEAR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.219 TSPEAR Zornitza Stark Classified gene: TSPEAR as Red List (low evidence)
Deafness_IsolatedAndComplex v0.219 TSPEAR Zornitza Stark Gene: tspear has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.218 TSPEAR Zornitza Stark reviewed gene: TSPEAR: Rating: RED; Mode of pathogenicity: None; Publications: 22678063, 26969326; Phenotypes: Deafness, autosomal recessive 98, MIM#614861; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.218 TNC Zornitza Stark Marked gene: TNC as ready
Deafness_IsolatedAndComplex v0.218 TNC Zornitza Stark Gene: tnc has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.218 TNC Zornitza Stark Phenotypes for gene: TNC were changed from to Deafness, autosomal dominant 56, MIM# 615629
Deafness_IsolatedAndComplex v0.217 TNC Zornitza Stark Publications for gene: TNC were set to
Deafness_IsolatedAndComplex v0.216 TNC Zornitza Stark Mode of inheritance for gene: TNC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.215 TNC Zornitza Stark Classified gene: TNC as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.215 TNC Zornitza Stark Gene: tnc has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.214 TNC Zornitza Stark reviewed gene: TNC: Rating: AMBER; Mode of pathogenicity: None; Publications: 23936043; Phenotypes: Deafness, autosomal dominant 56, MIM# 615629; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.214 TJP2 Zornitza Stark Marked gene: TJP2 as ready
Deafness_IsolatedAndComplex v0.214 TJP2 Zornitza Stark Gene: tjp2 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.214 TJP2 Zornitza Stark Phenotypes for gene: TJP2 were changed from Deafness to Deafness
Deafness_IsolatedAndComplex v0.214 TJP2 Zornitza Stark Publications for gene: TJP2 were set to 24752540; 20602916; 18616530
Deafness_IsolatedAndComplex v0.213 TJP2 Zornitza Stark Phenotypes for gene: TJP2 were changed from to Deafness
Deafness_IsolatedAndComplex v0.213 TJP2 Zornitza Stark Publications for gene: TJP2 were set to
Deafness_IsolatedAndComplex v0.213 TJP2 Zornitza Stark Mode of inheritance for gene: TJP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.212 TJP2 Zornitza Stark Classified gene: TJP2 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.212 TJP2 Zornitza Stark Gene: tjp2 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.211 TJP2 Zornitza Stark reviewed gene: TJP2: Rating: RED; Mode of pathogenicity: None; Publications: 24752540, 20602916, 18616530; Phenotypes: Deafness; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.211 SLC26A5 Zornitza Stark Marked gene: SLC26A5 as ready
Deafness_IsolatedAndComplex v0.211 SLC26A5 Zornitza Stark Added comment: Comment when marking as ready: Another publication identified, plus another individual with bi-allelic variants reported by a diagnostic laboratory.
Deafness_IsolatedAndComplex v0.211 SLC26A5 Zornitza Stark Gene: slc26a5 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.211 SLC26A5 Zornitza Stark Deleted their comment
Deafness_IsolatedAndComplex v0.211 SLC26A5 Zornitza Stark Added comment: Comment on publications: Another another individual with bi-allelic variants reported by a diagnostic laboratory.
Deafness_IsolatedAndComplex v0.211 SLC26A5 Zornitza Stark Publications for gene: SLC26A5 were set to 24164807; 26969326
Deafness_IsolatedAndComplex v0.210 SLC26A5 Zornitza Stark Added comment: Comment on publications: Another another individual with bi-allelic variants reported by a diagnostic laboratory.
Deafness_IsolatedAndComplex v0.210 SLC26A5 Zornitza Stark Publications for gene: SLC26A5 were set to 24164807
Deafness_IsolatedAndComplex v0.209 SLC26A5 Zornitza Stark Classified gene: SLC26A5 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.209 SLC26A5 Zornitza Stark Gene: slc26a5 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.208 MPZL2 Zornitza Stark Marked gene: MPZL2 as ready
Deafness_IsolatedAndComplex v0.208 MPZL2 Zornitza Stark Gene: mpzl2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.208 MPZL2 Zornitza Stark Publications for gene: MPZL2 were set to
Deafness_IsolatedAndComplex v0.207 MPZL2 Zornitza Stark Phenotypes for gene: MPZL2 were changed from to Deafness, autosomal recessive 111, MIM#618145
Deafness_IsolatedAndComplex v0.206 MPZL2 Zornitza Stark Mode of inheritance for gene: MPZL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.205 MPZL2 Zornitza Stark reviewed gene: MPZL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29982980, 29961571; Phenotypes: Deafness, autosomal recessive 111, MIM#618145; Mode of inheritance: None
Deafness_IsolatedAndComplex v0.205 LMX1A Zornitza Stark Marked gene: LMX1A as ready
Deafness_IsolatedAndComplex v0.205 LMX1A Zornitza Stark Added comment: Comment when marking as ready: Two families with mono-allelic variants and dominant pattern of deafness, one family with bi-allelic variants. Mouse model.
Deafness_IsolatedAndComplex v0.205 LMX1A Zornitza Stark Gene: lmx1a has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.205 LMX1A Zornitza Stark Phenotypes for gene: LMX1A were changed from to Deafness, autosomal recessive and autosomal dominant
Deafness_IsolatedAndComplex v0.204 LMX1A Zornitza Stark Publications for gene: LMX1A were set to
Deafness_IsolatedAndComplex v0.203 LMX1A Zornitza Stark Mode of inheritance for gene: LMX1A was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.202 LMX1A Zornitza Stark Classified gene: LMX1A as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.202 LMX1A Zornitza Stark Gene: lmx1a has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.201 LMX1A Zornitza Stark Mode of inheritance for gene: LMX1A was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.201 LMX1A Zornitza Stark Classified gene: LMX1A as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.201 LMX1A Zornitza Stark Gene: lmx1a has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.200 LMX1A Zornitza Stark reviewed gene: LMX1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 29971487; Phenotypes: Deafness, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.200 HGF Zornitza Stark Marked gene: HGF as ready
Deafness_IsolatedAndComplex v0.200 HGF Zornitza Stark Added comment: Comment when marking as ready: Note founder variants are synonymous (S165S) or deep intronic, c.482+1986_1988, c.482+1991_2000del
Deafness_IsolatedAndComplex v0.200 HGF Zornitza Stark Gene: hgf has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.200 HGF Zornitza Stark Publications for gene: HGF were set to
Deafness_IsolatedAndComplex v0.199 GJB6 Zornitza Stark Classified gene: GJB6 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.199 GJB6 Zornitza Stark Gene: gjb6 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.198 GJB6 Zornitza Stark Marked gene: GJB6 as ready
Deafness_IsolatedAndComplex v0.198 GJB6 Zornitza Stark Gene: gjb6 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.198 GJB6 Zornitza Stark Phenotypes for gene: GJB6 were changed from to Deafness, autosomal recessive and autosomal dominant
Deafness_IsolatedAndComplex v0.198 GJB6 Zornitza Stark Classified gene: GJB6 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.198 GJB6 Zornitza Stark Gene: gjb6 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.197 GJB6 Zornitza Stark reviewed gene: GJB6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive and autosomal dominant; Mode of inheritance: None
Deafness_IsolatedAndComplex v0.197 GJB4 Zornitza Stark Marked gene: GJB4 as ready
Deafness_IsolatedAndComplex v0.197 GJB4 Zornitza Stark Gene: gjb4 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.197 GJB4 Zornitza Stark Classified gene: GJB4 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.197 GJB4 Zornitza Stark Gene: gjb4 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.196 GJB4 Zornitza Stark reviewed gene: GJB4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Deafness_IsolatedAndComplex v0.196 GJB1 Zornitza Stark Marked gene: GJB1 as ready
Deafness_IsolatedAndComplex v0.196 GJB1 Zornitza Stark Gene: gjb1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.196 GJB1 Zornitza Stark Phenotypes for gene: GJB1 were changed from Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800 to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800
Deafness_IsolatedAndComplex v0.195 GJB1 Zornitza Stark Mode of inheritance for gene: GJB1 was changed from Unknown to Other
Deafness_IsolatedAndComplex v0.194 GJB1 Zornitza Stark Phenotypes for gene: GJB1 were changed from to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800
Deafness_IsolatedAndComplex v0.194 GJB1 Zornitza Stark Classified gene: GJB1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.194 GJB1 Zornitza Stark Gene: gjb1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.193 GJB1 Zornitza Stark reviewed gene: GJB1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800; Mode of inheritance: Other
Deafness_IsolatedAndComplex v0.193 FOXI1 Zornitza Stark Added comment: Comment on publications: Another six individuals reported in 17503324, though in one digenic inheritance was suggested.
Deafness_IsolatedAndComplex v0.193 FOXI1 Zornitza Stark Publications for gene: FOXI1 were set to 29242249; 9843211
Deafness_IsolatedAndComplex v0.192 DIAPH3 Zornitza Stark Marked gene: DIAPH3 as ready
Deafness_IsolatedAndComplex v0.192 DIAPH3 Zornitza Stark Added comment: Comment when marking as ready: Additional family identified (PMID 27658576), promoted to Amber. Same variant.
Deafness_IsolatedAndComplex v0.192 DIAPH3 Zornitza Stark Gene: diaph3 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.192 DIAPH3 Zornitza Stark Publications for gene: DIAPH3 were set to 23441200; 20624953
Deafness_IsolatedAndComplex v0.191 DIAPH3 Zornitza Stark Classified gene: DIAPH3 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.191 DIAPH3 Zornitza Stark Gene: diaph3 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.190 DIABLO Zornitza Stark Marked gene: DIABLO as ready
Deafness_IsolatedAndComplex v0.190 DIABLO Zornitza Stark Added comment: Comment when marking as ready: Additional publication identified, promoted to Amber.
Deafness_IsolatedAndComplex v0.190 DIABLO Zornitza Stark Gene: diablo has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.190 DIABLO Zornitza Stark Publications for gene: DIABLO were set to 21722859; 10929711
Deafness_IsolatedAndComplex v0.189 DIABLO Zornitza Stark Classified gene: DIABLO as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.189 DIABLO Zornitza Stark Gene: diablo has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.189 DIABLO Zornitza Stark Classified gene: DIABLO as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.189 DIABLO Zornitza Stark Gene: diablo has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.188 CCDC50 Zornitza Stark Marked gene: CCDC50 as ready
Deafness_IsolatedAndComplex v0.188 CCDC50 Zornitza Stark Added comment: Comment when marking as ready: Additional family identified, classification changed to Green.
Deafness_IsolatedAndComplex v0.188 CCDC50 Zornitza Stark Gene: ccdc50 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.188 CCDC50 Zornitza Stark Publications for gene: CCDC50 were set to 17503326; 27911912; 24875298
Deafness_IsolatedAndComplex v0.187 CCDC50 Zornitza Stark Publications for gene: CCDC50 were set to 17503326; 27911912
Deafness_IsolatedAndComplex v0.186 CCDC50 Zornitza Stark Classified gene: CCDC50 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.186 CCDC50 Zornitza Stark Gene: ccdc50 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.185 CATSPER2 Zornitza Stark Marked gene: CATSPER2 as ready
Deafness_IsolatedAndComplex v0.185 CATSPER2 Zornitza Stark Gene: catsper2 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.185 CATSPER2 Zornitza Stark Classified gene: CATSPER2 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.185 CATSPER2 Zornitza Stark Gene: catsper2 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.184 CATSPER2 Zornitza Stark reviewed gene: CATSPER2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Deafness_IsolatedAndComplex v0.184 AIFM1 Zornitza Stark Marked gene: AIFM1 as ready
Deafness_IsolatedAndComplex v0.184 AIFM1 Zornitza Stark Gene: aifm1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.184 AIFM1 Zornitza Stark Phenotypes for gene: AIFM1 were changed from to Deafness, X-linked 5, MIM# 300614
Deafness_IsolatedAndComplex v0.184 AIFM1 Zornitza Stark Mode of inheritance for gene: AIFM1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Deafness_IsolatedAndComplex v0.183 AIFM1 Zornitza Stark Publications for gene: AIFM1 were set to
Deafness_IsolatedAndComplex v0.183 AIFM1 Zornitza Stark Mode of inheritance for gene: AIFM1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Deafness_IsolatedAndComplex v0.182 AIFM1 Zornitza Stark reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25986071; Phenotypes: Deafness, X-linked 5, MIM# 300614; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.535 SPATC1L Zornitza Stark Marked gene: SPATC1L as ready
Mendeliome v0.535 SPATC1L Zornitza Stark Gene: spatc1l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.535 SPATC1L Zornitza Stark Classified gene: SPATC1L as Amber List (moderate evidence)
Mendeliome v0.535 SPATC1L Zornitza Stark Gene: spatc1l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.534 SPATC1L Zornitza Stark gene: SPATC1L was added
gene: SPATC1L was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: SPATC1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATC1L were set to 30177775
Phenotypes for gene: SPATC1L were set to Deafness
Review for gene: SPATC1L was set to AMBER
Added comment: Two families with compound het variants, and one family with heterozygous variant and dominant pattern of hearing loss described, some functional data.
Sources: Expert list
Deafness_IsolatedAndComplex v0.182 SPATC1L Zornitza Stark Marked gene: SPATC1L as ready
Deafness_IsolatedAndComplex v0.182 SPATC1L Zornitza Stark Gene: spatc1l has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.182 SPATC1L Zornitza Stark Classified gene: SPATC1L as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.182 SPATC1L Zornitza Stark Gene: spatc1l has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.181 SPATC1L Zornitza Stark gene: SPATC1L was added
gene: SPATC1L was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: SPATC1L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPATC1L were set to 30177775
Phenotypes for gene: SPATC1L were set to Deafness
Review for gene: SPATC1L was set to AMBER
Added comment: Two families with compound het variants, and one family with heterozygous variant and dominant pattern of hearing loss described, some functional data.
Sources: Expert list
Deafness_IsolatedAndComplex v0.180 SPATA5 Zornitza Stark Marked gene: SPATA5 as ready
Deafness_IsolatedAndComplex v0.180 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.180 SPATA5 Zornitza Stark Classified gene: SPATA5 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.180 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.179 SPATA5 Zornitza Stark gene: SPATA5 was added
gene: SPATA5 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5 were set to 26299366
Phenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome, MIM# 616577
Review for gene: SPATA5 was set to GREEN
Added comment: 14 children from 10 families reported, deafness is part of the phenotype.
Sources: Expert list
Deafness_IsolatedAndComplex v0.178 SLC52A2 Zornitza Stark Marked gene: SLC52A2 as ready
Deafness_IsolatedAndComplex v0.178 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.178 SLC52A2 Zornitza Stark Classified gene: SLC52A2 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.178 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.177 SLC52A2 Zornitza Stark gene: SLC52A2 was added
gene: SLC52A2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, MIM# 614707
Review for gene: SLC52A2 was set to GREEN
Added comment: Deafness is part of the phenotype.
Sources: Expert list
Deafness_IsolatedAndComplex v0.176 Zornitza Stark removed gene:SLC25A6 from the panel
Deafness_IsolatedAndComplex v0.175 SLC26A5 Zornitza Stark Marked gene: SLC26A5 as ready
Deafness_IsolatedAndComplex v0.175 SLC26A5 Zornitza Stark Gene: slc26a5 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.175 SLC26A5 Zornitza Stark gene: SLC26A5 was added
gene: SLC26A5 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: SLC26A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC26A5 were set to 24164807
Phenotypes for gene: SLC26A5 were set to Deafness, autosomal recessive 61, MIM# 613865
Review for gene: SLC26A5 was set to RED
Added comment: Single family with compound het variants in this gene in a pair of sibs reported. Note an intronic variant in this gene previously implicated in deafness has been reclassified as likely benign due to high pop frequency (PMID:12719379).
Sources: Expert list
Deafness_IsolatedAndComplex v0.174 SGPL1 Zornitza Stark Marked gene: SGPL1 as ready
Deafness_IsolatedAndComplex v0.174 SGPL1 Zornitza Stark Gene: sgpl1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.174 SGPL1 Zornitza Stark Classified gene: SGPL1 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.174 SGPL1 Zornitza Stark Gene: sgpl1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.173 SGPL1 Zornitza Stark gene: SGPL1 was added
gene: SGPL1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGPL1 were set to 28181337; 28165339; 28165343
Phenotypes for gene: SGPL1 were set to Nephrotic syndrome, type 14, MIM# 617575
Review for gene: SGPL1 was set to GREEN
Added comment: Deafness is part of the phenotype.
Sources: Expert list
Deafness_IsolatedAndComplex v0.172 SERAC1 Zornitza Stark Marked gene: SERAC1 as ready
Deafness_IsolatedAndComplex v0.172 SERAC1 Zornitza Stark Gene: serac1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.172 SERAC1 Zornitza Stark Classified gene: SERAC1 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.172 SERAC1 Zornitza Stark Gene: serac1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.171 SERAC1 Zornitza Stark gene: SERAC1 was added
gene: SERAC1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739
Review for gene: SERAC1 was set to GREEN
Added comment: Deafness is a common part of the phenotype of this metabolic condition.
Sources: Expert list
Renal Ciliopathies and Nephronophthisis v0.31 ICK Zornitza Stark Marked gene: ICK as ready
Renal Ciliopathies and Nephronophthisis v0.31 ICK Zornitza Stark Gene: ick has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.31 ICK Zornitza Stark gene: ICK was added
gene: ICK was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert list
Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ICK were set to 19185282; 27069622
Phenotypes for gene: ICK were set to Endocrine-cerebroosteodysplasia, MIM# 612651
Review for gene: ICK was set to RED
Added comment: 6 affected individuals from 2 Amish families reported originally (founder effect); another Turkish family reported since. However, renal cysts only reported in the Amish families, emerging ciliopathy gene, renal phenotype remains to be elucidated.
Sources: Expert list
Mendeliome v0.533 WBP2 Zornitza Stark Marked gene: WBP2 as ready
Mendeliome v0.533 WBP2 Zornitza Stark Gene: wbp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.533 WBP2 Zornitza Stark Classified gene: WBP2 as Amber List (moderate evidence)
Mendeliome v0.533 WBP2 Zornitza Stark Gene: wbp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.532 WBP2 Zornitza Stark gene: WBP2 was added
gene: WBP2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: WBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WBP2 were set to 26881968
Phenotypes for gene: WBP2 were set to Deafness, autosomal recessive 107, MIM# 617639
Review for gene: WBP2 was set to AMBER
Added comment: Two unrelated families identified in a large cohort; supportive animal model data.
Sources: Expert list
Deafness_IsolatedAndComplex v0.170 WBP2 Zornitza Stark Phenotypes for gene: WBP2 were changed from Deafness, autosomal recessive 107, MIM3 617639 to Deafness, autosomal recessive 107, MIM# 617639
Deafness_IsolatedAndComplex v0.169 WBP2 Zornitza Stark Marked gene: WBP2 as ready
Deafness_IsolatedAndComplex v0.169 WBP2 Zornitza Stark Gene: wbp2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.169 WBP2 Zornitza Stark Classified gene: WBP2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.169 WBP2 Zornitza Stark Gene: wbp2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.168 WBP2 Zornitza Stark gene: WBP2 was added
gene: WBP2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: WBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WBP2 were set to 26881968
Phenotypes for gene: WBP2 were set to Deafness, autosomal recessive 107, MIM3 617639
Review for gene: WBP2 was set to AMBER
Added comment: Two unrelated families identified in a large cohort; supportive animal model data.
Sources: Expert list
Mendeliome v0.531 TMEM132E Zornitza Stark Marked gene: TMEM132E as ready
Mendeliome v0.531 TMEM132E Zornitza Stark Gene: tmem132e has been classified as Amber List (Moderate Evidence).
Mendeliome v0.531 TMEM132E Zornitza Stark Classified gene: TMEM132E as Amber List (moderate evidence)
Mendeliome v0.531 TMEM132E Zornitza Stark Gene: tmem132e has been classified as Amber List (Moderate Evidence).
Mendeliome v0.530 TMEM132E Zornitza Stark gene: TMEM132E was added
gene: TMEM132E was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: TMEM132E was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM132E were set to 25331638
Phenotypes for gene: TMEM132E were set to Deafness, autosomal recessive 99, MIM# 618481
Review for gene: TMEM132E was set to AMBER
Added comment: Single family reported, supportive animal model.
Sources: Expert list
Deafness_IsolatedAndComplex v0.167 TMEM132E Zornitza Stark Marked gene: TMEM132E as ready
Deafness_IsolatedAndComplex v0.167 TMEM132E Zornitza Stark Gene: tmem132e has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.167 TMEM132E Zornitza Stark Classified gene: TMEM132E as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.167 TMEM132E Zornitza Stark Gene: tmem132e has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.166 TMEM132E Zornitza Stark gene: TMEM132E was added
gene: TMEM132E was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: TMEM132E was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM132E were set to 25331638
Phenotypes for gene: TMEM132E were set to Deafness, autosomal recessive 99, MIM# 618481
Review for gene: TMEM132E was set to AMBER
Added comment: Single family reported, supportive animal model.
Sources: Expert list
Mendeliome v0.529 GRAP Zornitza Stark Marked gene: GRAP as ready
Mendeliome v0.529 GRAP Zornitza Stark Gene: grap has been classified as Red List (Low Evidence).
Mendeliome v0.529 GRAP Zornitza Stark gene: GRAP was added
gene: GRAP was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: GRAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRAP were set to 30610177
Phenotypes for gene: GRAP were set to Deafness, autosomal recessive 114, MIM# 618456
Review for gene: GRAP was set to RED
Added comment: Two apparently unrelated Turkish families reported, however same homozygous missense variant, and SNP analysis indicated identity by descent.
Sources: Expert list
Deafness_IsolatedAndComplex v0.165 GRAP Zornitza Stark gene: GRAP was added
gene: GRAP was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: GRAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRAP were set to 30610177
Phenotypes for gene: GRAP were set to Deafness, autosomal recessive 114, MIM# 618456
Review for gene: GRAP was set to RED
Added comment: Two apparently unrelated Turkish families reported, however same homozygous missense variant, and SNP analysis indicated identity by descent.
Sources: Expert list
Mendeliome v0.528 SPNS2 Zornitza Stark Marked gene: SPNS2 as ready
Mendeliome v0.528 SPNS2 Zornitza Stark Gene: spns2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.528 SPNS2 Zornitza Stark Classified gene: SPNS2 as Amber List (moderate evidence)
Mendeliome v0.528 SPNS2 Zornitza Stark Gene: spns2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.527 SPNS2 Zornitza Stark gene: SPNS2 was added
gene: SPNS2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: SPNS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPNS2 were set to 25356849
Phenotypes for gene: SPNS2 were set to Deafness, autosomal recessive 115, MIM# 618457
Review for gene: SPNS2 was set to AMBER
Added comment: Single family reported, mouse model shows progressive hearing loss.
Sources: Expert list
Deafness_IsolatedAndComplex v0.164 SPNS2 Zornitza Stark Marked gene: SPNS2 as ready
Deafness_IsolatedAndComplex v0.164 SPNS2 Zornitza Stark Gene: spns2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.164 SPNS2 Zornitza Stark Classified gene: SPNS2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.164 SPNS2 Zornitza Stark Gene: spns2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.163 SPNS2 Zornitza Stark gene: SPNS2 was added
gene: SPNS2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: SPNS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPNS2 were set to 30973865; 25356849
Phenotypes for gene: SPNS2 were set to Deafness, autosomal recessive 115, MIM# 618457
Review for gene: SPNS2 was set to AMBER
Added comment: Single family reported, mouse model shows progressive hearing loss.
Sources: Expert list
Mendeliome v0.526 ESRP1 Zornitza Stark Marked gene: ESRP1 as ready
Mendeliome v0.526 ESRP1 Zornitza Stark Gene: esrp1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.526 ESRP1 Zornitza Stark Classified gene: ESRP1 as Amber List (moderate evidence)
Mendeliome v0.526 ESRP1 Zornitza Stark Gene: esrp1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.525 ESRP1 Zornitza Stark gene: ESRP1 was added
gene: ESRP1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: ESRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESRP1 were set to 29107558
Phenotypes for gene: ESRP1 were set to Deafness, autosomal recessive 109, MIM# 618013
Review for gene: ESRP1 was set to AMBER
Added comment: Single family with affected sibs, mouse model.
Sources: Expert list
Deafness_IsolatedAndComplex v0.162 ESRP1 Zornitza Stark Classified gene: ESRP1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.162 ESRP1 Zornitza Stark Gene: esrp1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.161 ESRP1 Zornitza Stark gene: ESRP1 was added
gene: ESRP1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: ESRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESRP1 were set to 29107558
Phenotypes for gene: ESRP1 were set to Deafness, autosomal recessive 109, MIM# 618013
Review for gene: ESRP1 was set to AMBER
Added comment: Single family reported with affected sibs, mouse model.
Sources: Expert list
Mendeliome v0.524 SLC26A5 Zornitza Stark Marked gene: SLC26A5 as ready
Mendeliome v0.524 SLC26A5 Zornitza Stark Gene: slc26a5 has been classified as Red List (Low Evidence).
Mendeliome v0.524 SLC26A5 Zornitza Stark Phenotypes for gene: SLC26A5 were changed from to Deafness, autosomal recessive 61, MIM# 613865
Mendeliome v0.523 SLC26A5 Zornitza Stark Publications for gene: SLC26A5 were set to
Mendeliome v0.522 SLC26A5 Zornitza Stark Mode of inheritance for gene: SLC26A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.521 SLC26A5 Zornitza Stark Classified gene: SLC26A5 as Red List (low evidence)
Mendeliome v0.521 SLC26A5 Zornitza Stark Gene: slc26a5 has been classified as Red List (Low Evidence).
Mendeliome v0.520 SLC26A5 Zornitza Stark reviewed gene: SLC26A5: Rating: RED; Mode of pathogenicity: None; Publications: 24164807; Phenotypes: Deafness, autosomal recessive 61, MIM# 613865; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.160 SLC25A6 Zornitza Stark Marked gene: SLC25A6 as ready
Deafness_IsolatedAndComplex v0.160 SLC25A6 Zornitza Stark Gene: slc25a6 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.160 SLC25A6 Zornitza Stark gene: SLC25A6 was added
gene: SLC25A6 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: SLC25A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A6 were set to 24164807
Phenotypes for gene: SLC25A6 were set to Deafness, autosomal recessive 61, MIM# 613865
Review for gene: SLC25A6 was set to RED
Added comment: Single family with compound het variants in this gene in a pair of sibs reported. Note an intronic variant in this gene previously implicated in deafness has been reclassified as likely benign due to high pop frequency (PMID:12719379).
Sources: Expert list
Mendeliome v0.520 PPIP5K2 Zornitza Stark Marked gene: PPIP5K2 as ready
Mendeliome v0.520 PPIP5K2 Zornitza Stark Gene: ppip5k2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.520 PPIP5K2 Zornitza Stark Classified gene: PPIP5K2 as Amber List (moderate evidence)
Mendeliome v0.520 PPIP5K2 Zornitza Stark Gene: ppip5k2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.519 PPIP5K2 Zornitza Stark gene: PPIP5K2 was added
gene: PPIP5K2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: PPIP5K2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIP5K2 were set to 29590114
Phenotypes for gene: PPIP5K2 were set to Deafness, autosomal recessive 100, MIM# 618422
Review for gene: PPIP5K2 was set to AMBER
Added comment: Two apparently unrelated families with multiple affecteds segregating a homozygous missense variant; mouse model.
Sources: Expert list
Deafness_IsolatedAndComplex v0.159 PPIP5K2 Zornitza Stark Marked gene: PPIP5K2 as ready
Deafness_IsolatedAndComplex v0.159 PPIP5K2 Zornitza Stark Gene: ppip5k2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.159 PPIP5K2 Zornitza Stark Classified gene: PPIP5K2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.159 PPIP5K2 Zornitza Stark Gene: ppip5k2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.158 PPIP5K2 Zornitza Stark gene: PPIP5K2 was added
gene: PPIP5K2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: PPIP5K2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIP5K2 were set to 29590114
Phenotypes for gene: PPIP5K2 were set to Deafness, autosomal recessive 100, MIM# 618422
Review for gene: PPIP5K2 was set to AMBER
Added comment: Two apparently unrelated families with multiple affecteds segregating a homozygous missense variant; mouse model.
Sources: Expert list
Mendeliome v0.518 ROR1 Zornitza Stark Marked gene: ROR1 as ready
Mendeliome v0.518 ROR1 Zornitza Stark Gene: ror1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.518 ROR1 Zornitza Stark Classified gene: ROR1 as Amber List (moderate evidence)
Mendeliome v0.518 ROR1 Zornitza Stark Gene: ror1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.517 ROR1 Zornitza Stark gene: ROR1 was added
gene: ROR1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: ROR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ROR1 were set to 27162350
Phenotypes for gene: ROR1 were set to Deafness, autosomal recessive 108, MIM# 617654
Review for gene: ROR1 was set to AMBER
Added comment: Single family, sibs with homozygous missense variant; mouse model.
Sources: Expert list
Deafness_IsolatedAndComplex v0.157 ROR1 Zornitza Stark Marked gene: ROR1 as ready
Deafness_IsolatedAndComplex v0.157 ROR1 Zornitza Stark Gene: ror1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.157 ROR1 Zornitza Stark Classified gene: ROR1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.157 ROR1 Zornitza Stark Gene: ror1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.156 ROR1 Zornitza Stark gene: ROR1 was added
gene: ROR1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: ROR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ROR1 were set to 27162350
Phenotypes for gene: ROR1 were set to Deafness, autosomal recessive 108, MIM# 617654
Review for gene: ROR1 was set to AMBER
Added comment: Single family, homozygous missense variant in sibs; mouse model.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1460 PUM1 Zornitza Stark Marked gene: PUM1 as ready
Intellectual disability syndromic and non-syndromic v0.1460 PUM1 Zornitza Stark Gene: pum1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1460 PUM1 Zornitza Stark Phenotypes for gene: PUM1 were changed from Spinocerebellar ataxia 47, MIM#617931 to Spinocerebellar ataxia 47, MIM#617931; intellectual disability; epilepsy
Intellectual disability syndromic and non-syndromic v0.1459 PUM1 Zornitza Stark Publications for gene: PUM1 were set to 29474920; 25768905
Intellectual disability syndromic and non-syndromic v0.1458 PUM1 Zornitza Stark Classified gene: PUM1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1458 PUM1 Zornitza Stark Added comment: Comment on list classification: Another two families reported.
Intellectual disability syndromic and non-syndromic v0.1458 PUM1 Zornitza Stark Gene: pum1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.155 S1PR2 Zornitza Stark Marked gene: S1PR2 as ready
Deafness_IsolatedAndComplex v0.155 S1PR2 Zornitza Stark Gene: s1pr2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.155 S1PR2 Zornitza Stark Classified gene: S1PR2 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.155 S1PR2 Zornitza Stark Gene: s1pr2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.154 S1PR2 Zornitza Stark gene: S1PR2 was added
gene: S1PR2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: S1PR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: S1PR2 were set to 26805784; 29776397; 27383011
Phenotypes for gene: S1PR2 were set to Deafness, autosomal recessive 68, MIM# 610419
Review for gene: S1PR2 was set to GREEN
Added comment: Three unrelated families and a mouse model.
Sources: Expert list
Mendeliome v0.516 RIPOR2 Zornitza Stark Marked gene: RIPOR2 as ready
Mendeliome v0.516 RIPOR2 Zornitza Stark Gene: ripor2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.516 RIPOR2 Zornitza Stark Classified gene: RIPOR2 as Amber List (moderate evidence)
Mendeliome v0.516 RIPOR2 Zornitza Stark Gene: ripor2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.515 RIPOR2 Zornitza Stark gene: RIPOR2 was added
gene: RIPOR2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: RIPOR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIPOR2 were set to 24958875
Phenotypes for gene: RIPOR2 were set to Deafness, autosomal recessive 104, MIM# 616515
Review for gene: RIPOR2 was set to AMBER
Added comment: Single family and animal model data.
Sources: Expert list
Deafness_IsolatedAndComplex v0.153 RIPOR2 Zornitza Stark Marked gene: RIPOR2 as ready
Deafness_IsolatedAndComplex v0.153 RIPOR2 Zornitza Stark Gene: ripor2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.153 RIPOR2 Zornitza Stark Classified gene: RIPOR2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.153 RIPOR2 Zornitza Stark Gene: ripor2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.152 RIPOR2 Zornitza Stark gene: RIPOR2 was added
gene: RIPOR2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: RIPOR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIPOR2 were set to 24958875
Phenotypes for gene: RIPOR2 were set to Deafness, autosomal recessive 104, MIM# 616515
Review for gene: RIPOR2 was set to AMBER
Added comment: Single family and animal model data.
Sources: Expert list
Deafness_IsolatedAndComplex v0.151 NARS2 Zornitza Stark Marked gene: NARS2 as ready
Deafness_IsolatedAndComplex v0.151 NARS2 Zornitza Stark Gene: nars2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.151 NARS2 Zornitza Stark Classified gene: NARS2 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.151 NARS2 Zornitza Stark Gene: nars2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.150 NARS2 Zornitza Stark gene: NARS2 was added
gene: NARS2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: NARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NARS2 were set to 25807530; 28077841; 30327238; 25385316
Phenotypes for gene: NARS2 were set to Deafness, autosomal recessive 94, MIM# 618434; Combined oxidative phosphorylation deficiency 24, MIM#616239
Review for gene: NARS2 was set to GREEN
Added comment: Only one family described with isolated deafness; however, deafness is also part of the phenotype of the multi-system mitochondrial disorder associated with this gene.
Sources: Expert list
Deafness_IsolatedAndComplex v0.149 KIT Zornitza Stark Marked gene: KIT as ready
Deafness_IsolatedAndComplex v0.149 KIT Zornitza Stark Gene: kit has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.149 KIT Zornitza Stark Classified gene: KIT as Green List (high evidence)
Deafness_IsolatedAndComplex v0.149 KIT Zornitza Stark Gene: kit has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.148 KIT Zornitza Stark gene: KIT was added
gene: KIT was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIT were set to Piebaldism, MIM# 172800
Review for gene: KIT was set to GREEN
Added comment: Deafness described in a proportion of affected individuals.
Sources: Expert list
Deafness_IsolatedAndComplex v0.147 HAAO Zornitza Stark Marked gene: HAAO as ready
Deafness_IsolatedAndComplex v0.147 HAAO Zornitza Stark Gene: haao has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.147 HAAO Zornitza Stark Classified gene: HAAO as Green List (high evidence)
Deafness_IsolatedAndComplex v0.147 HAAO Zornitza Stark Gene: haao has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.146 HAAO Zornitza Stark Marked gene: HAAO as ready
Deafness_IsolatedAndComplex v0.146 HAAO Zornitza Stark Gene: haao has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.146 HAAO Zornitza Stark Classified gene: HAAO as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.146 HAAO Zornitza Stark Gene: haao has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.145 HAAO Zornitza Stark gene: HAAO was added
gene: HAAO was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAAO were set to 28792876
Phenotypes for gene: HAAO were set to Vertebral, cardiac, renal, and limb defects syndrome 1, MIM# 617660
Review for gene: HAAO was set to AMBER
Added comment: Two unrelated families described with bi-allelic variants in this gene and a multiple congenital anomalies disorder, including deafness. Functional data.
Sources: Expert list
Mendeliome v0.514 PROC Zornitza Stark Marked gene: PROC as ready
Mendeliome v0.514 PROC Zornitza Stark Gene: proc has been classified as Green List (High Evidence).
Mendeliome v0.514 PROC Zornitza Stark Publications for gene: PROC were set to
Mendeliome v0.514 PROC Zornitza Stark Phenotypes for gene: PROC were changed from to Thrombophilia due to protein C deficiency, autosomal dominant (176860); Thrombophilia due to protein C deficiency, autosomal recessive (612304)
Mendeliome v0.513 PROC Zornitza Stark Mode of inheritance for gene: PROC was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Ichthyosis v0.5 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Ichthyosis v0.5 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Ichthyosis v0.5 VPS33B Zornitza Stark Classified gene: VPS33B as Green List (high evidence)
Ichthyosis v0.5 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Ichthyosis v0.4 VPS33B Zornitza Stark gene: VPS33B was added
gene: VPS33B was added to Ichthyosis_VCGS. Sources: Literature
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS33B were set to 30561130; 28017832
Phenotypes for gene: VPS33B were set to Autosomal recessive keratoderma-ichthyosis-deafness
Review for gene: VPS33B was set to GREEN
Added comment: Four unrelated individuals reported with this phenotype. This condition is allelic to arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome (MIM #208085).
Sources: Literature
Deafness_IsolatedAndComplex v0.144 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Deafness_IsolatedAndComplex v0.144 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.144 VPS33B Zornitza Stark Classified gene: VPS33B as Green List (high evidence)
Deafness_IsolatedAndComplex v0.144 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.143 VPS33B Zornitza Stark gene: VPS33B was added
gene: VPS33B was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS33B were set to 30561130; 28017832
Phenotypes for gene: VPS33B were set to Autosomal recessive keratoderma-ichthyosis-deafness
Review for gene: VPS33B was set to GREEN
Added comment: Four unrelated individuals reported with this phenotype.
This condition is allelic to arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome (MIM #208085).
Sources: Literature
Hereditary Spastic Paraplegia - paediatric v0.4 KLC2 Bryony Thompson gene: KLC2 was added
gene: KLC2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: KLC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLC2 were set to Spastic paraplegia, optic atrophy, and neuropathy, MIM#609541
Review for gene: KLC2 was set to RED
Added comment: A large deletion in the non-coding region segregates with disease and has been identified in >3 cases with SPOAN. This CNV is not detected by whole exome sequencing.
Sources: Expert list
Mendeliome v0.512 PROC Chris Richmond reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: None; Publications: 22545135, 30925296; Phenotypes: Thrombophilia due to protein C deficiency, autosomal dominant (176860), Thrombophilia due to protein C deficiency, autosomal recessive (612304); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.3 GRID2 Bryony Thompson Marked gene: GRID2 as ready
Hereditary Spastic Paraplegia - paediatric v0.3 GRID2 Bryony Thompson Added comment: Comment when marking as ready: Deletion not detectable using exome sequencing and only one reported case with spastic paraplegia. This gene is associated with Spinocerebellar ataxia, autosomal recessive 18, 616204.
Hereditary Spastic Paraplegia - paediatric v0.3 GRID2 Bryony Thompson Gene: grid2 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia - paediatric v0.3 GRID2 Bryony Thompson gene: GRID2 was added
gene: GRID2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: GRID2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GRID2 were set to 24122788
Phenotypes for gene: GRID2 were set to Complicated spastic paraplegia
Review for gene: GRID2 was set to RED
Added comment: One case with a de novo partial deletion of exon1 of GRID2 with a complicated spastic paraplegia phenotype.
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.2 BICD2 Bryony Thompson Marked gene: BICD2 as ready
Hereditary Spastic Paraplegia - adult onset v0.2 BICD2 Bryony Thompson Gene: bicd2 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia - adult onset v0.2 BICD2 Bryony Thompson Classified gene: BICD2 as Amber List (moderate evidence)
Hereditary Spastic Paraplegia - adult onset v0.2 BICD2 Bryony Thompson Gene: bicd2 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia - adult onset v0.1 BICD2 Bryony Thompson gene: BICD2 was added
gene: BICD2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert list
Mode of inheritance for gene: BICD2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: BICD2 were set to 23664120; 25497877; 24482476
Phenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM#618291
Review for gene: BICD2 was set to AMBER
Added comment: One family reported with a heterozygous missense in an adult-onset ADHSP family (PMID: 23664120, 25497877), and one homozygous missense in an early-onset HSP family (PMID: 24482476).
Sources: Expert list
Hereditary Spastic Paraplegia - paediatric v0.2 L1CAM Bryony Thompson Marked gene: L1CAM as ready
Hereditary Spastic Paraplegia - paediatric v0.2 L1CAM Bryony Thompson Gene: l1cam has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.2 L1CAM Bryony Thompson Classified gene: L1CAM as Green List (high evidence)
Hereditary Spastic Paraplegia - paediatric v0.2 L1CAM Bryony Thompson Gene: l1cam has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.1 L1CAM Bryony Thompson gene: L1CAM was added
gene: L1CAM was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: L1CAM were set to Hereditary spastic paraplegia, 308840; MASA syndrome, 303350; X-linked hydrocephalus, 307000
Review for gene: L1CAM was set to GREEN
Added comment: Early onset spastic paraplegia is a prominent feature of the phenotype. The syndrome is also known as SPG1.
Sources: Expert list
Hereditary Spastic Paraplegia - paediatric v0.0 ZFR Bryony Thompson gene: ZFR was added
gene: ZFR was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: ZFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFR were set to 24482476
Phenotypes for gene: ZFR were set to Complicated hereditary spastic paraplegia
Hereditary Spastic Paraplegia - paediatric v0.0 WDR48 Bryony Thompson gene: WDR48 was added
gene: WDR48 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: WDR48 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR48 were set to 24482476
Phenotypes for gene: WDR48 were set to Spastic paraplegia
Hereditary Spastic Paraplegia - paediatric v0.0 VPS37A Bryony Thompson gene: VPS37A was added
gene: VPS37A was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: VPS37A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS37A were set to 22717650
Phenotypes for gene: VPS37A were set to Spastic paraplegia 53, autosomal recessive; Spastic paraplegia 53, autosomal recessive, 614898, AR
Hereditary Spastic Paraplegia - paediatric v0.0 USP8 Bryony Thompson gene: USP8 was added
gene: USP8 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: USP8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP8 were set to 24482476
Phenotypes for gene: USP8 were set to Complicated hereditary spastic paraplegia
Hereditary Spastic Paraplegia - paediatric v0.0 UNC80 Bryony Thompson gene: UNC80 was added
gene: UNC80 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UNC80 were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
Hereditary Spastic Paraplegia - paediatric v0.0 TTR Bryony Thompson gene: TTR was added
gene: TTR was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TTR were set to 8960746
Phenotypes for gene: TTR were set to Amyloidogenic transthyretin amyloidosis
Hereditary Spastic Paraplegia - paediatric v0.0 TPP1 Bryony Thompson gene: TPP1 was added
gene: TPP1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPP1 were set to 27217339
Phenotypes for gene: TPP1 were set to Ceroid lipofuscinosis neuronal 2; complex hereditary spastic paraplegia
Hereditary Spastic Paraplegia - paediatric v0.0 STXBP1 Bryony Thompson gene: STXBP1 was added
gene: STXBP1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: STXBP1 were set to Early infantile epileptic encephalopathy 4
Hereditary Spastic Paraplegia - paediatric v0.0 SOX10 Bryony Thompson gene: SOX10 was added
gene: SOX10 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOX10 were set to 28534044
Phenotypes for gene: SOX10 were set to Neurocristopathy; PCWH syndrome, MIM#609136; Complicated hereditary spastic paraplegia
Hereditary Spastic Paraplegia - paediatric v0.0 SLC19A3 Bryony Thompson gene: SLC19A3 was added
gene: SLC19A3 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A3 were set to Biotin-thiamine-responsive basal ganglia disease
Hereditary Spastic Paraplegia - paediatric v0.0 SELENOI Bryony Thompson gene: SELENOI was added
gene: SELENOI was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SELENOI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SELENOI were set to 28052917; 29500230
Phenotypes for gene: SELENOI were set to severe complicated hereditary spastic paraplegia, sensorineural-deafness, blindness, and seizures
Hereditary Spastic Paraplegia - paediatric v0.0 PGAP1 Bryony Thompson gene: PGAP1 was added
gene: PGAP1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: PGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGAP1 were set to 24482476
Phenotypes for gene: PGAP1 were set to Mental retardation, autosomal recessive 42
Hereditary Spastic Paraplegia - paediatric v0.0 MTPAP Bryony Thompson gene: MTPAP was added
gene: MTPAP was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTPAP were set to 27391121; 20970105
Phenotypes for gene: MTPAP were set to ?Spastic ataxia 4, autosomal recessive, 613672; Ataxia, spastic, 4; Spastic ataxia 4, autosomal recessive
Hereditary Spastic Paraplegia - paediatric v0.0 MARS Bryony Thompson gene: MARS was added
gene: MARS was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MARS were set to 24482476
Phenotypes for gene: MARS were set to Complicated hereditary spastic paraplegia
Hereditary Spastic Paraplegia - paediatric v0.0 LARS2 Bryony Thompson gene: LARS2 was added
gene: LARS2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS2 were set to Perrault syndrome 4
Hereditary Spastic Paraplegia - paediatric v0.0 KLC4 Bryony Thompson gene: KLC4 was added
gene: KLC4 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: KLC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLC4 were set to 26423925
Phenotypes for gene: KLC4 were set to spastic paraplegia; progressive complicated spastic paraplegia
Hereditary Spastic Paraplegia - paediatric v0.0 IFRD1 Bryony Thompson gene: IFRD1 was added
gene: IFRD1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: IFRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IFRD1 were set to 29362493
Phenotypes for gene: IFRD1 were set to autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia
Hereditary Spastic Paraplegia - paediatric v0.0 HARS2 Bryony Thompson gene: HARS2 was added
gene: HARS2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HARS2 were set to Perrault syndrome 2
Hereditary Spastic Paraplegia - paediatric v0.0 GAN Bryony Thompson gene: GAN was added
gene: GAN was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAN were set to 26381321
Phenotypes for gene: GAN were set to Giant axonal neuropathy
Hereditary Spastic Paraplegia - paediatric v0.0 GAD1 Bryony Thompson gene: GAD1 was added
gene: GAD1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: GAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAD1 were set to 15571623
Phenotypes for gene: GAD1 were set to Cerebralpalsy, spasticquadriplegic,1, 603513
Hereditary Spastic Paraplegia - paediatric v0.0 FOXG1 Bryony Thompson gene: FOXG1 was added
gene: FOXG1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXG1 were set to Rett syndrome
Hereditary Spastic Paraplegia - paediatric v0.0 EXOSC3 Bryony Thompson gene: EXOSC3 was added
gene: EXOSC3 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC3 were set to 25149867; 23975261
Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1b
Hereditary Spastic Paraplegia - paediatric v0.0 DSTYK Bryony Thompson gene: DSTYK was added
gene: DSTYK was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DSTYK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DSTYK were set to Congenital anomalies of kidney and urinary tract 1, 610805, AD; Spastic paraplegia 23, 270750; Spastic paraplegia 23, 270750, AR
Hereditary Spastic Paraplegia - paediatric v0.0 CLPP Bryony Thompson gene: CLPP was added
gene: CLPP was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLPP were set to Perrault syndrome 3
Hereditary Spastic Paraplegia - paediatric v0.0 CCT5 Bryony Thompson gene: CCT5 was added
gene: CCT5 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCT5 were set to 16399879
Phenotypes for gene: CCT5 were set to Neuropathy, hereditary sensory, with spastic paraplegia; Sensory Neuropathy with Spastic Paraplegia
Hereditary Spastic Paraplegia - paediatric v0.0 ATAD3A Bryony Thompson gene: ATAD3A was added
gene: ATAD3A was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ATAD3A were set to Harel-Yoon syndrome
Hereditary Spastic Paraplegia - paediatric v0.0 ARSI Bryony Thompson gene: ARSI was added
gene: ARSI was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: ARSI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARSI were set to 24482476
Phenotypes for gene: ARSI were set to Childhood onset spastic paraplegia
Hereditary Spastic Paraplegia - paediatric v0.0 ARL6IP1 Bryony Thompson gene: ARL6IP1 was added
gene: ARL6IP1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL6IP1 were set to 30980493; 24482476; 28471035
Phenotypes for gene: ARL6IP1 were set to ?Spastic paraplegia 61, autosomal recessive, MIM#615685
Hereditary Spastic Paraplegia - paediatric v0.0 AMPD2 Bryony Thompson gene: AMPD2 was added
gene: AMPD2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMPD2 were set to 24482476; 30089829; 29463858
Phenotypes for gene: AMPD2 were set to Pontocerebellar hypoplasia, type 9, 615809, AR; Hereditary Spastic Paraplegia?; Pontocerebellar hypolplasia (biallelic); ?Spastic paraplegia 63, 615686, AR
Hereditary Spastic Paraplegia - paediatric v0.0 ALDH3A2 Bryony Thompson gene: ALDH3A2 was added
gene: ALDH3A2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH3A2 were set to Sjögren-Larsson syndrome
Hereditary Spastic Paraplegia - paediatric v0.0 ACOX1 Bryony Thompson gene: ACOX1 was added
gene: ACOX1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACOX1 were set to Pseudoneonatal adrenoleukodystrophy
Hereditary Spastic Paraplegia - paediatric v0.0 WDR45B Bryony Thompson gene: WDR45B was added
gene: WDR45B was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: WDR45B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR45B were set to Profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. Omim-Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977
Hereditary Spastic Paraplegia - paediatric v0.0 UCHL1 Bryony Thompson gene: UCHL1 was added
gene: UCHL1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: UCHL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UCHL1 were set to Spastic paraplegia 79, autosomal recessive, 615491, AR
Hereditary Spastic Paraplegia - paediatric v0.0 TFG Bryony Thompson gene: TFG was added
gene: TFG was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TFG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TFG were set to ?Spastic paraplegia 57, autosomal recessive 615658,AR; Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD
Hereditary Spastic Paraplegia - paediatric v0.0 TECPR2 Bryony Thompson gene: TECPR2 was added
gene: TECPR2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TECPR2 were set to Spastic paraplegia 49, autosomal recessive, 615031; Spastic paraplegia 49, autosomal recessive,615031, AR
Hereditary Spastic Paraplegia - paediatric v0.0 SPART Bryony Thompson gene: SPART was added
gene: SPART was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPART were set to Troyer syndrome; Spastic paraplegia 20, autosomal recessive
Hereditary Spastic Paraplegia - paediatric v0.0 SLC2A1 Bryony Thompson gene: SLC2A1 was added
gene: SLC2A1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC2A1 were set to Developmental delay; autosomal dominant, complicated hereditary spastic paraplegia (HSP); paroxysmal choreoathetosis; spastic paraplegia; seizure
Hereditary Spastic Paraplegia - paediatric v0.0 SLC1A4 Bryony Thompson gene: SLC1A4 was added
gene: SLC1A4 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657
Hereditary Spastic Paraplegia - paediatric v0.0 SLC16A2 Bryony Thompson gene: SLC16A2 was added
gene: SLC16A2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome, 300523, XL
Hereditary Spastic Paraplegia - paediatric v0.0 SERAC1 Bryony Thompson gene: SERAC1 was added
gene: SERAC1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERAC1 were set to MEGDEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, Autosomal dominant, 614739; MEGDHEL syndrome
Hereditary Spastic Paraplegia - paediatric v0.0 SAMHD1 Bryony Thompson gene: SAMHD1 was added
gene: SAMHD1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAMHD1 were set to Aicardi Goutieres syndrome 5
Hereditary Spastic Paraplegia - paediatric v0.0 RNASEH2B Bryony Thompson gene: RNASEH2B was added
gene: RNASEH2B was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2B were set to Aicardi Goutieres syndrome 2
Hereditary Spastic Paraplegia - paediatric v0.0 REEP2 Bryony Thompson gene: REEP2 was added
gene: REEP2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: REEP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: REEP2 were set to ?Spastic paraplegia 72, autosomal dominant,615625; ?Spastic paraplegia 72, autosomal recessive, 615625; ?Spastic paraplegia 72, autosomal dominant, 615625
Hereditary Spastic Paraplegia - paediatric v0.0 NT5C2 Bryony Thompson gene: NT5C2 was added
gene: NT5C2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NT5C2 were set to Spasticparaplegia45, autosomal recessive, 613162; Spastic paraplegia 45, autosomal recessive, 613162, AR
Hereditary Spastic Paraplegia - paediatric v0.0 NKX6-2 Bryony Thompson gene: NKX6-2 was added
gene: NKX6-2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560
Hereditary Spastic Paraplegia - paediatric v0.0 MAG Bryony Thompson gene: MAG was added
gene: MAG was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MAG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAG were set to 31402626; 24482476; 26179919
Phenotypes for gene: MAG were set to Spastic paraplegia 75, autosomal recessive, 616680
Hereditary Spastic Paraplegia - paediatric v0.0 KIF1C Bryony Thompson gene: KIF1C was added
gene: KIF1C was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1C were set to Spastic ataxia 2, autosomal recessive, 611302; Spastic ataxia 2, autosomal recessive
Hereditary Spastic Paraplegia - paediatric v0.0 KIDINS220 Bryony Thompson gene: KIDINS220 was added
gene: KIDINS220 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KIDINS220 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIDINS220 were set to Spastic paraplegia, intellectual disability, nystagmus, and obesity, autosomal dominant, 617296
Hereditary Spastic Paraplegia - paediatric v0.0 KDM5C Bryony Thompson gene: KDM5C was added
gene: KDM5C was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KDM5C 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: KDM5C were set to Intellectual disability; Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; progressive spasticity; hypothyroidism; developmental delay; epilepsy
Hereditary Spastic Paraplegia - paediatric v0.0 IFIH1 Bryony Thompson gene: IFIH1 was added
gene: IFIH1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: IFIH1 were set to Aicardi-Goutieres syndrome 7
Hereditary Spastic Paraplegia - paediatric v0.0 HACE1 Bryony Thompson gene: HACE1 was added
gene: HACE1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HACE1 were set to seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756; Spastic paraplegia; psychomotor retardation
Hereditary Spastic Paraplegia - paediatric v0.0 GCH1 Bryony Thompson gene: GCH1 was added
gene: GCH1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
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; progressive spastic paraplegia; Spastic paraplegia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230
Hereditary Spastic Paraplegia - paediatric v0.0 FARS2 Bryony Thompson gene: FARS2 was added
gene: FARS2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FARS2 were set to Spastic paraplegia 77, autosomal recessive, 617046
Hereditary Spastic Paraplegia - paediatric v0.0 ERLIN1 Bryony Thompson gene: ERLIN1 was added
gene: ERLIN1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ERLIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERLIN1 were set to Spastic paraplegia 62, 615681; Hereditary spastic paraplegia
Hereditary Spastic Paraplegia - paediatric v0.0 ENTPD1 Bryony Thompson gene: ENTPD1 was added
gene: ENTPD1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ENTPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ENTPD1 were set to Spasticparaplegia 64, 615683
Hereditary Spastic Paraplegia - paediatric v0.0 CYP2U1 Bryony Thompson gene: CYP2U1 was added
gene: CYP2U1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP2U1 were set to Spastic paraplegia 56, autosomal recessive, 615030
Hereditary Spastic Paraplegia - paediatric v0.0 C19orf12 Bryony Thompson gene: C19orf12 was added
gene: C19orf12 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C19orf12 were set to Neurodegeneration with brain iron accumulation 4, 614298; Spastic paraplegia 43, autosomal recessive, 615043
Hereditary Spastic Paraplegia - paediatric v0.0 C12orf65 Bryony Thompson gene: C12orf65 was added
gene: C12orf65 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C12orf65 were set to Spastic paraplegia 55, autosomal recessive, 615035; optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy; Combined oxidative phosphorylation deficiency 7, 613559
Hereditary Spastic Paraplegia - paediatric v0.0 ARG1 Bryony Thompson gene: ARG1 was added
gene: ARG1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARG1 were set to Progressive spastic tetraplegia; Argininaemia, 207800
Hereditary Spastic Paraplegia - paediatric v0.0 AP4S1 Bryony Thompson gene: AP4S1 was added
gene: AP4S1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4S1 were set to developmental delay; Spastic paraplegia 52, autosomal recessive, 614067; seizures
Hereditary Spastic Paraplegia - paediatric v0.0 AP4M1 Bryony Thompson gene: AP4M1 was added
gene: AP4M1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive, 612936
Hereditary Spastic Paraplegia - paediatric v0.0 AP4E1 Bryony Thompson gene: AP4E1 was added
gene: AP4E1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive, 613744
Hereditary Spastic Paraplegia - paediatric v0.0 AP4B1 Bryony Thompson gene: AP4B1 was added
gene: AP4B1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, 614066
Hereditary Spastic Paraplegia - paediatric v0.0 ALS2 Bryony Thompson gene: ALS2 was added
gene: ALS2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALS2 were set to Primary lateral sclerosis, juvenile, autosomal recessive, 606353; Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100; Spastic paralysis, infantile onset ascending,autosomal recessive, 607225
Hereditary Spastic Paraplegia - paediatric v0.0 AIMP1 Bryony Thompson gene: AIMP1 was added
gene: AIMP1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AIMP1 were set to Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600
Hereditary Spastic Paraplegia - paediatric v0.0 AFG3L2 Bryony Thompson gene: AFG3L2 was added
gene: AFG3L2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AFG3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AFG3L2 were set to Ataxia, spastic, 5, autosomal recessive; Spinocerebellar ataxia 28, autosomal dominant, 610246; Spastic ataxia 5, autosomal recessive
Hereditary Spastic Paraplegia - paediatric v0.0 ADAR Bryony Thompson gene: ADAR was added
gene: ADAR was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, 615010 autosomal recessive; Dyschromatosis symmetrica hereditaria, autosomal dominant, 127400
Hereditary Spastic Paraplegia - paediatric v0.0 Bryony Thompson Added panel Hereditary Spastic Paraplegia - paediatric_RMH
Autism v0.21 SHANK1 Zornitza Stark Marked gene: SHANK1 as ready
Autism v0.21 SHANK1 Zornitza Stark Gene: shank1 has been classified as Green List (High Evidence).
Autism v0.21 SHANK1 Zornitza Stark Phenotypes for gene: SHANK1 were changed from to Autism
Autism v0.20 SHANK1 Zornitza Stark Classified gene: SHANK1 as Green List (high evidence)
Autism v0.20 SHANK1 Zornitza Stark Gene: shank1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1457 SHANK1 Zornitza Stark Marked gene: SHANK1 as ready
Intellectual disability syndromic and non-syndromic v0.1457 SHANK1 Zornitza Stark Gene: shank1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1457 SHANK1 Zornitza Stark Phenotypes for gene: SHANK1 were changed from to Autism
Intellectual disability syndromic and non-syndromic v0.1456 SHANK1 Zornitza Stark Publications for gene: SHANK1 were set to
Intellectual disability syndromic and non-syndromic v0.1455 SHANK1 Zornitza Stark Classified gene: SHANK1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1455 SHANK1 Zornitza Stark Gene: shank1 has been classified as Red List (Low Evidence).
Mendeliome v0.512 CLDN9 Zornitza Stark Marked gene: CLDN9 as ready
Mendeliome v0.512 CLDN9 Zornitza Stark Gene: cldn9 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.512 CLDN9 Zornitza Stark Classified gene: CLDN9 as Amber List (moderate evidence)
Mendeliome v0.512 CLDN9 Zornitza Stark Gene: cldn9 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.511 CLDN9 Zornitza Stark gene: CLDN9 was added
gene: CLDN9 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: CLDN9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN9 were set to 31175426; 19696885
Phenotypes for gene: CLDN9 were set to Deafness, autosomal recessive
Review for gene: CLDN9 was set to AMBER
Added comment: Single family with multiple sibs reported; mouse model exhibits deafness.
Sources: Literature
Deafness_IsolatedAndComplex v0.142 CLDN9 Zornitza Stark Marked gene: CLDN9 as ready
Deafness_IsolatedAndComplex v0.142 CLDN9 Zornitza Stark Gene: cldn9 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.142 CLDN9 Zornitza Stark Phenotypes for gene: CLDN9 were changed from to Deafness, autosomal recessive
Deafness_IsolatedAndComplex v0.141 CLDN9 Zornitza Stark Classified gene: CLDN9 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.141 CLDN9 Zornitza Stark Gene: cldn9 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.140 CLDN9 Zornitza Stark gene: CLDN9 was added
gene: CLDN9 was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: CLDN9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN9 were set to 31175426; 19696885
Review for gene: CLDN9 was set to AMBER
Added comment: Single family with multiple sibs reported; mouse model exhibits deafness.
Sources: Literature
Mendeliome v0.510 TOP2B Zornitza Stark Marked gene: TOP2B as ready
Mendeliome v0.510 TOP2B Zornitza Stark Gene: top2b has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.139 TOP2B Zornitza Stark Marked gene: TOP2B as ready
Deafness_IsolatedAndComplex v0.139 TOP2B Zornitza Stark Gene: top2b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.510 TOP2B Zornitza Stark Classified gene: TOP2B as Amber List (moderate evidence)
Mendeliome v0.510 TOP2B Zornitza Stark Gene: top2b has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.139 TOP2B Zornitza Stark Classified gene: TOP2B as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.139 TOP2B Zornitza Stark Gene: top2b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.509 TOP2B Zornitza Stark gene: TOP2B was added
gene: TOP2B was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOP2B were set to 31198993
Phenotypes for gene: TOP2B were set to Autosomal dominant deafness
Review for gene: TOP2B was set to AMBER
Added comment: One multigenerational family where variant in this gene segregated; two additional variants identified in a cohort; supportive animal model data.
Sources: Literature
Deafness_IsolatedAndComplex v0.138 TOP2B Zornitza Stark gene: TOP2B was added
gene: TOP2B was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOP2B were set to 31198993
Phenotypes for gene: TOP2B were set to Autosomal dominant deafness
Review for gene: TOP2B was set to AMBER
Added comment: One multigenerational family where variant in this gene segregated; two additional variants identified in a cohort; supportive animal model data.
Sources: Literature
Hereditary Spastic Paraplegia - adult onset v0.0 ZFYVE27 Bryony Thompson gene: ZFYVE27 was added
gene: ZFYVE27 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: ZFYVE27 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZFYVE27 were set to 29980238; 18606302; 16826525
Phenotypes for gene: ZFYVE27 were set to Spastic paraplegia 33, autosomal dominant
Hereditary Spastic Paraplegia - adult onset v0.0 SLC33A1 Bryony Thompson gene: SLC33A1 was added
gene: SLC33A1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: SLC33A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC33A1 were set to 27935820; 19061983
Phenotypes for gene: SLC33A1 were set to Spastic paraplegia 42, autosomal dominant; Congenital cataracts, hearing loss, and neurodegeneration 614482, AR:Spastic paraplegia 42, autosomal dominant, 612539 AD
Hereditary Spastic Paraplegia - adult onset v0.0 LYST Bryony Thompson gene: LYST was added
gene: LYST was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYST were set to 26307451; 24521565
Phenotypes for gene: LYST were set to spastic paraplegia; Spastic paraplegia; Chediak-Higashi syndrome, 214500
Hereditary Spastic Paraplegia - adult onset v0.0 FBXO7 Bryony Thompson gene: FBXO7 was added
gene: FBXO7 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: FBXO7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBXO7 were set to Parkinson disease 15
Hereditary Spastic Paraplegia - adult onset v0.0 DNM2 Bryony Thompson gene: DNM2 was added
gene: DNM2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNM2 were set to 26517984
Phenotypes for gene: DNM2 were set to Complicated hereditary spastic paraplegia
Hereditary Spastic Paraplegia - adult onset v0.0 ATP2B4 Bryony Thompson gene: ATP2B4 was added
gene: ATP2B4 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: ATP2B4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP2B4 were set to 29691679; 25798335; 25119969
Phenotypes for gene: ATP2B4 were set to Pure and complicated hereditary spastic paraplegia
Hereditary Spastic Paraplegia - adult onset v0.0 AAAS Bryony Thompson gene: AAAS was added
gene: AAAS was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AAAS were set to 22824007; 30381913
Phenotypes for gene: AAAS were set to Glucocorticoid deficiency with achalasia
Hereditary Spastic Paraplegia - adult onset v0.0 ZFYVE26 Bryony Thompson gene: ZFYVE26 was added
gene: ZFYVE26 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive, 270700
Hereditary Spastic Paraplegia - adult onset v0.0 WASHC5 Bryony Thompson gene: WASHC5 was added
gene: WASHC5 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: WASHC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WASHC5 were set to Spastic paraplegia 8, autosomal dominant, 603563
Hereditary Spastic Paraplegia - adult onset v0.0 VAMP1 Bryony Thompson gene: VAMP1 was added
gene: VAMP1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: VAMP1 were set to Spastic ataxia 1, autosomal dominant, 108600
Hereditary Spastic Paraplegia - adult onset v0.0 UBAP1 Bryony Thompson gene: UBAP1 was added
gene: UBAP1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: UBAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: UBAP1 were set to Hereditary spastic paraplegia
Hereditary Spastic Paraplegia - adult onset v0.0 TUBB4A Bryony Thompson gene: TUBB4A was added
gene: TUBB4A was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB4A were set to ataxia; Leukodystrophy, hypomyelinating, 612438 AD; Dystonia 4, torsion, autosomal dominant, 128101
Hereditary Spastic Paraplegia - adult onset v0.0 SPG7 Bryony Thompson gene: SPG7 was added
gene: SPG7 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive, 607259
Hereditary Spastic Paraplegia - adult onset v0.0 SPG21 Bryony Thompson gene: SPG21 was added
gene: SPG21 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPG21 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPG21 were set to Mast syndrome, 248900; Spastic Paraplegia, autosomal recessive
Hereditary Spastic Paraplegia - adult onset v0.0 SPG11 Bryony Thompson gene: SPG11 was added
gene: SPG11 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPG11 were set to Amyotrophic lateral sclerosis 5, juvenile, 602099, AR; Spastic paraplegia 11, autosomal recessive, 604360; Charcot-Marie-Tooth disease, axonal, type 2X, 616668, AR
Hereditary Spastic Paraplegia - adult onset v0.0 SPAST Bryony Thompson gene: SPAST was added
gene: SPAST was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant, 182601
Hereditary Spastic Paraplegia - adult onset v0.0 SACS Bryony Thompson gene: SACS was added
gene: SACS was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type, 270550
Hereditary Spastic Paraplegia - adult onset v0.0 RTN2 Bryony Thompson gene: RTN2 was added
gene: RTN2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RTN2 were set to Spastic paraplegia 12, autosomal dominant, 604805
Hereditary Spastic Paraplegia - adult onset v0.0 REEP1 Bryony Thompson gene: REEP1 was added
gene: REEP1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: REEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: REEP1 were set to Spastic paraplegia 31, autosomal dominant, 610250
Hereditary Spastic Paraplegia - adult onset v0.0 PSEN1 Bryony Thompson gene: PSEN1 was added
gene: PSEN1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PSEN1 were set to Alzheimer disease, type 3, with spastic paraparesis and apraxia; Alzheimer disease, type 3, with spastic paraparesis, apraxia and unusual plaques; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques
Hereditary Spastic Paraplegia - adult onset v0.0 POLR3A Bryony Thompson gene: POLR3A was added
gene: POLR3A was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Autosomal Recessive Ataxia
Hereditary Spastic Paraplegia - adult onset v0.0 PNPLA6 Bryony Thompson gene: PNPLA6 was added
gene: PNPLA6 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA6 were set to Spastic paraplegia 39, autosomal recessive, 612020
Hereditary Spastic Paraplegia - adult onset v0.0 PLP1 Bryony Thompson gene: PLP1 was added
gene: PLP1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PLP1 were set to Spastic paraplegia 2, X-linked recessive, 312920
Hereditary Spastic Paraplegia - adult onset v0.0 OPA3 Bryony Thompson gene: OPA3 was added
gene: OPA3 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OPA3 were set to Costeff syndrome, Optic atrophy 3 with cataract, 165300, AD; 3-methylglutaconic aciduria, type III, 258501
Hereditary Spastic Paraplegia - adult onset v0.0 NIPA1 Bryony Thompson gene: NIPA1 was added
gene: NIPA1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NIPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NIPA1 were set to Spasticparaplegia 6,autosomal dominant, pseudoautosomal, NOT imprinted, 600363
Hereditary Spastic Paraplegia - adult onset v0.0 KIF5A Bryony Thompson gene: KIF5A was added
gene: KIF5A was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIF5A were set to Spastic paraplegia 10, autosomal dominant or pseudoautosomal, NOT imprinted, 604187
Hereditary Spastic Paraplegia - adult onset v0.0 KIF1A Bryony Thompson gene: KIF1A was added
gene: KIF1A was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KIF1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KIF1A were set to Mental retardation, autosomal dominant 9, 614255, AD; Spastic paraplegia 30, autosomal recessive, 610357; Neuropathy, hereditary sensory, type IIC, 614213, AR
Hereditary Spastic Paraplegia - adult onset v0.0 KCNA2 Bryony Thompson gene: KCNA2 was added
gene: KCNA2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNA2 were set to Hereditary spastic paraplegia and ataxia
Hereditary Spastic Paraplegia - adult onset v0.0 IBA57 Bryony Thompson gene: IBA57 was added
gene: IBA57 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IBA57 were set to 25609768; 30258207
Phenotypes for gene: IBA57 were set to ?Spastic paraplegia 74, autosomal recessive, 616451
Hereditary Spastic Paraplegia - adult onset v0.0 HSPD1 Bryony Thompson gene: HSPD1 was added
gene: HSPD1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HSPD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HSPD1 were set to Leukodystrophy, hypomyelinating, 4, autosomal recessive, 612233; Spastic paraplegia 13, autosomal dominant or pseudoautosomal, NOT imprinted, 605280
Hereditary Spastic Paraplegia - adult onset v0.0 GJC2 Bryony Thompson gene: GJC2 was added
gene: GJC2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GJC2 were set to Spastic paraplegia 44, autosomal recessive; Leukodystrophy, hypomyelinating, 2, 608804, AR; Spastic paraplegia 44, autosomal recessive 613206, AR
Hereditary Spastic Paraplegia - adult onset v0.0 GBA2 Bryony Thompson gene: GBA2 was added
gene: GBA2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive, 614409
Hereditary Spastic Paraplegia - adult onset v0.0 FXN Bryony Thompson gene: FXN was added
gene: FXN was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FXN were set to Friedreich ataxia, 229300
Hereditary Spastic Paraplegia - adult onset v0.0 FA2H Bryony Thompson gene: FA2H was added
gene: FA2H was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive, 611026
Hereditary Spastic Paraplegia - adult onset v0.0 ERLIN2 Bryony Thompson gene: ERLIN2 was added
gene: ERLIN2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ERLIN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ERLIN2 were set to Spastic paraplegia, autosomal dominant; hereditary spastic paraplegia; neurodegeneration.; Spastic paraplegia 18, autosomal recessive, 611225
Hereditary Spastic Paraplegia - adult onset v0.0 DDHD2 Bryony Thompson gene: DDHD2 was added
gene: DDHD2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDHD2 were set to Spastic paraplegia 54, autosomal recessive, 615033
Hereditary Spastic Paraplegia - adult onset v0.0 DDHD1 Bryony Thompson gene: DDHD1 was added
gene: DDHD1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDHD1 were set to Spastic paraplegia 28, autosomal recessive, 609340
Hereditary Spastic Paraplegia - adult onset v0.0 DARS Bryony Thompson gene: DARS was added
gene: DARS was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS were set to Brain stem and spinal cord Hypomyelination; leg spasticity; Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Hereditary Spastic Paraplegia - adult onset v0.0 CYP7B1 Bryony Thompson gene: CYP7B1 was added
gene: CYP7B1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP7B1 were set to Spastic paraplegia 5A, autosomal recessive, 270800
Hereditary Spastic Paraplegia - adult onset v0.0 CYP27A1 Bryony Thompson gene: CYP27A1 was added
gene: CYP27A1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness
Hereditary Spastic Paraplegia - adult onset v0.0 CPT1C Bryony Thompson gene: CPT1C was added
gene: CPT1C was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CPT1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CPT1C were set to 25751282; 30911584
Phenotypes for gene: CPT1C were set to ?Spastic paraplegia 73, autosomal dominant, 616282
Hereditary Spastic Paraplegia - adult onset v0.0 CAPN1 Bryony Thompson gene: CAPN1 was added
gene: CAPN1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CAPN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAPN1 were set to Spastic paraplegia 76 autosomal recessive, 616907
Hereditary Spastic Paraplegia - adult onset v0.0 BSCL2 Bryony Thompson gene: BSCL2 was added
gene: BSCL2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BSCL2 were set to Silver spastic paraplegia syndrome, 270685
Hereditary Spastic Paraplegia - adult onset v0.0 B4GALNT1 Bryony Thompson gene: B4GALNT1 was added
gene: B4GALNT1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia 26, autosomal recessive, 609195
Hereditary Spastic Paraplegia - adult onset v0.0 ATP13A2 Bryony Thompson gene: ATP13A2 was added
gene: ATP13A2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP13A2 were set to Spastic paraplegia 78, autosomal recessive, 617225; Kufor-Rakeb syndrome, 606693 AR; complicated hereditary spastic paraplegia; Adult-onset lower-limb predominant spastic paraparesis
Hereditary Spastic Paraplegia - adult onset v0.0 ATL1 Bryony Thompson gene: ATL1 was added
gene: ATL1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ATL1 were set to Spastic paraplegia 3A, 182600 autosomal dominant; Spastic Paraplegia, Dominant; Neuropathy, hereditary sensory, type ID, 613708
Hereditary Spastic Paraplegia - adult onset v0.0 AP5Z1 Bryony Thompson gene: AP5Z1 was added
gene: AP5Z1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP5Z1 were set to Spastic Paraplegia, Recessive; Spastic paraplegia 48, autosomal recessive, 613647; Spastic paraplegia 48, autosomal recessive
Hereditary Spastic Paraplegia - adult onset v0.0 ALDH18A1 Bryony Thompson gene: ALDH18A1 was added
gene: ALDH18A1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal dominant 3 616603; SPG9; Spastic paraplegia 9B, autosomal recessive 616586; Cutis laxa, autosomal recessive, type IIIA 219150; ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; Spastic paraplegia 9A, autosomal dominant 601162
Hereditary Spastic Paraplegia - adult onset v0.0 ABCD1 Bryony Thompson gene: ABCD1 was added
gene: ABCD1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ABCD1 were set to spastic paraparesis; Hereditary spastic paraplegia; Adrenoleukodystrophy, 300100; VLCFA accumulation; adrenal failure
Hereditary Spastic Paraplegia - adult onset v0.0 Bryony Thompson Added panel Hereditary Spastic Paraplegia - adult onset_RMH
Deafness_IsolatedAndComplex v0.137 BCAP31 Zornitza Stark Marked gene: BCAP31 as ready
Deafness_IsolatedAndComplex v0.137 BCAP31 Zornitza Stark Gene: bcap31 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.137 BCAP31 Zornitza Stark Classified gene: BCAP31 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.137 BCAP31 Zornitza Stark Gene: bcap31 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.136 BCAP31 Zornitza Stark gene: BCAP31 was added
gene: BCAP31 was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BCAP31 were set to 24011989; 31330203; 28332767
Phenotypes for gene: BCAP31 were set to Deafness, dystonia, and cerebral hypomyelination, MIM# 300475
Review for gene: BCAP31 was set to GREEN
Added comment: Five unrelated families reported, deafness is part of the phenotype.
Sources: Literature
Ichthyosis v0.3 AP1B1 Zornitza Stark Marked gene: AP1B1 as ready
Ichthyosis v0.3 AP1B1 Zornitza Stark Gene: ap1b1 has been classified as Green List (High Evidence).
Ichthyosis v0.3 AP1B1 Zornitza Stark Classified gene: AP1B1 as Green List (high evidence)
Ichthyosis v0.3 AP1B1 Zornitza Stark Gene: ap1b1 has been classified as Green List (High Evidence).
Ichthyosis v0.2 AP1B1 Zornitza Stark gene: AP1B1 was added
gene: AP1B1 was added to Ichthyosis_VCGS. Sources: Literature
Mode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1B1 were set to 31630788; 31630791
Phenotypes for gene: AP1B1 were set to Intellectual disability; enteropathy; deafness; ichthyosis; keratoderma
Review for gene: AP1B1 was set to GREEN
Added comment: Four unrelated families with bi-allelic LoF variants in this gene.
Sources: Literature
Mendeliome v0.508 AP1B1 Zornitza Stark Marked gene: AP1B1 as ready
Mendeliome v0.508 AP1B1 Zornitza Stark Gene: ap1b1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1454 AP1B1 Zornitza Stark Classified gene: AP1B1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1454 AP1B1 Zornitza Stark Gene: ap1b1 has been classified as Green List (High Evidence).
Mendeliome v0.508 AP1B1 Zornitza Stark Classified gene: AP1B1 as Green List (high evidence)
Mendeliome v0.508 AP1B1 Zornitza Stark Gene: ap1b1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1453 AP1B1 Zornitza Stark gene: AP1B1 was added
gene: AP1B1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1B1 were set to 31630788; 31630791
Phenotypes for gene: AP1B1 were set to Intellectual disability; enteropathy; deafness; ichthyosis; keratoderma
Review for gene: AP1B1 was set to GREEN
Added comment: Four unrelated families with bi-allelic LoF variants in this gene.
Sources: Literature
Mendeliome v0.507 AP1B1 Zornitza Stark gene: AP1B1 was added
gene: AP1B1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1B1 were set to 31630788; 31630791
Phenotypes for gene: AP1B1 were set to Intellectual disability; enteropathy; deafness; ichthyosis; keratoderma
Review for gene: AP1B1 was set to GREEN
Added comment: Four unrelated families with bi-allelic LoF variants in this gene.
Sources: Literature
Deafness_IsolatedAndComplex v0.135 AP1B1 Zornitza Stark Marked gene: AP1B1 as ready
Deafness_IsolatedAndComplex v0.135 AP1B1 Zornitza Stark Gene: ap1b1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.135 AP1B1 Zornitza Stark Phenotypes for gene: AP1B1 were changed from Intellectual disability; enteropathy; deafness; peripheral neuropathy; ichthyosis; keratoderma to Intellectual disability; enteropathy; deafness; ichthyosis; keratoderma
Deafness_IsolatedAndComplex v0.134 AP1B1 Zornitza Stark Classified gene: AP1B1 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.134 AP1B1 Zornitza Stark Gene: ap1b1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.133 AP1B1 Zornitza Stark gene: AP1B1 was added
gene: AP1B1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1B1 were set to 31630788; 31630791
Phenotypes for gene: AP1B1 were set to Intellectual disability; enteropathy; deafness; peripheral neuropathy; ichthyosis; keratoderma
Review for gene: AP1B1 was set to GREEN
Added comment: Four families reported with bi-allelic LoF variants in this gene.
Sources: Literature
Mendeliome v0.506 ADCY1 Zornitza Stark Marked gene: ADCY1 as ready
Mendeliome v0.506 ADCY1 Zornitza Stark Gene: adcy1 has been classified as Red List (Low Evidence).
Mendeliome v0.506 ADCY1 Zornitza Stark Publications for gene: ADCY1 were set to
Mendeliome v0.505 ADCY1 Zornitza Stark Phenotypes for gene: ADCY1 were changed from to Deafness, autosomal recessive 44, MIM# 610154
Mendeliome v0.504 ADCY1 Zornitza Stark Mode of inheritance for gene: ADCY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.503 ADCY1 Zornitza Stark Classified gene: ADCY1 as Red List (low evidence)
Mendeliome v0.503 ADCY1 Zornitza Stark Gene: adcy1 has been classified as Red List (Low Evidence).
Mendeliome v0.502 ADCY1 Zornitza Stark reviewed gene: ADCY1: Rating: RED; Mode of pathogenicity: None; Publications: 24482543; Phenotypes: Deafness, autosomal recessive 44, MIM# 610154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.502 BDP1 Zornitza Stark Marked gene: BDP1 as ready
Mendeliome v0.502 BDP1 Zornitza Stark Gene: bdp1 has been classified as Red List (Low Evidence).
Mendeliome v0.502 BDP1 Zornitza Stark Mode of inheritance for gene: BDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.501 BDP1 Zornitza Stark Phenotypes for gene: BDP1 were changed from to Deafness, autosomal recessive 112, MIM#618257
Mendeliome v0.500 BDP1 Zornitza Stark Publications for gene: BDP1 were set to
Mendeliome v0.499 BDP1 Zornitza Stark Classified gene: BDP1 as Red List (low evidence)
Mendeliome v0.499 BDP1 Zornitza Stark Gene: bdp1 has been classified as Red List (Low Evidence).
Mendeliome v0.498 BDP1 Zornitza Stark reviewed gene: BDP1: Rating: RED; Mode of pathogenicity: None; Publications: 24312468, 25060281; Phenotypes: Deafness, autosomal recessive 112, MIM#618257; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.132 BDP1 Zornitza Stark Marked gene: BDP1 as ready
Deafness_IsolatedAndComplex v0.132 BDP1 Zornitza Stark Gene: bdp1 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.132 BDP1 Zornitza Stark Phenotypes for gene: BDP1 were changed from to Deafness, autosomal recessive 112, MIM#618257
Deafness_IsolatedAndComplex v0.131 BDP1 Zornitza Stark Publications for gene: BDP1 were set to
Deafness_IsolatedAndComplex v0.130 BDP1 Zornitza Stark Classified gene: BDP1 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.130 BDP1 Zornitza Stark Added comment: Comment on list classification: Single family, nonstop variant.
Deafness_IsolatedAndComplex v0.130 BDP1 Zornitza Stark Gene: bdp1 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.129 BDP1 Zornitza Stark Mode of inheritance for gene: BDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.128 CCDC50 Zornitza Stark Marked gene: CCDC50 as ready
Deafness_IsolatedAndComplex v0.128 CCDC50 Zornitza Stark Gene: ccdc50 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.128 CCDC50 Zornitza Stark Publications for gene: CCDC50 were set to
Deafness_IsolatedAndComplex v0.127 CCDC50 Zornitza Stark Phenotypes for gene: CCDC50 were changed from to Deafness, autosomal dominant 44, MIM# 607453; Childhood onset deafness, progressive
Deafness_IsolatedAndComplex v0.126 CCDC50 Zornitza Stark Mode of inheritance for gene: CCDC50 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.125 CCDC50 Zornitza Stark Classified gene: CCDC50 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.125 CCDC50 Zornitza Stark Gene: ccdc50 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.498 CLIC5 Zornitza Stark Phenotypes for gene: CLIC5 were changed from to Deafness, autosomal recessive 103, MIM# 616042
Mendeliome v0.497 CLIC5 Zornitza Stark Mode of inheritance for gene: CLIC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.496 CLIC5 Zornitza Stark Publications for gene: CLIC5 were set to
Mendeliome v0.495 CLIC5 Zornitza Stark Classified gene: CLIC5 as Amber List (moderate evidence)
Mendeliome v0.495 CLIC5 Zornitza Stark Gene: clic5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.494 CLIC5 Zornitza Stark reviewed gene: CLIC5: Rating: AMBER; Mode of pathogenicity: None; Publications: 24781754, 17021174; Phenotypes: Deafness, autosomal recessive 103, MIM# 616042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.124 CEP78 Zornitza Stark Marked gene: CEP78 as ready
Deafness_IsolatedAndComplex v0.124 CEP78 Zornitza Stark Gene: cep78 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.124 CEP78 Zornitza Stark Phenotypes for gene: CEP78 were changed from Cone-rod dystrophy and hearing loss to Cone-rod dystrophy and hearing loss, MIM#617236
Deafness_IsolatedAndComplex v0.123 CEP78 Zornitza Stark Classified gene: CEP78 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.123 CEP78 Zornitza Stark Gene: cep78 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.122 CRYM Zornitza Stark Marked gene: CRYM as ready
Deafness_IsolatedAndComplex v0.122 CRYM Zornitza Stark Gene: crym has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.122 CRYM Zornitza Stark Mode of inheritance for gene: CRYM was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.121 CRYM Zornitza Stark Phenotypes for gene: CRYM were changed from Deafness, autosomal dominant 40, MIM# 616357 to Deafness, autosomal dominant 40, MIM# 616357
Deafness_IsolatedAndComplex v0.120 CRYM Zornitza Stark Mode of inheritance for gene: CRYM was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.120 CRYM Zornitza Stark Mode of inheritance for gene: CRYM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.119 CRYM Zornitza Stark Phenotypes for gene: CRYM were changed from to Deafness, autosomal dominant 40, MIM# 616357
Deafness_IsolatedAndComplex v0.119 CRYM Zornitza Stark Publications for gene: CRYM were set to 12471561; 16740909; 18448257; 24676347; 26915689
Mendeliome v0.494 DIABLO Zornitza Stark Marked gene: DIABLO as ready
Mendeliome v0.494 DIABLO Zornitza Stark Gene: diablo has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.118 CRYM Zornitza Stark Publications for gene: CRYM were set to
Mendeliome v0.494 DIABLO Zornitza Stark Phenotypes for gene: DIABLO were changed from to Deafness, autosomal dominant 64, MIM# 614152
Deafness_IsolatedAndComplex v0.117 CRYM Zornitza Stark Classified gene: CRYM as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.117 CRYM Zornitza Stark Gene: crym has been classified as Amber List (Moderate Evidence).
Mendeliome v0.493 DIABLO Zornitza Stark Publications for gene: DIABLO were set to
Mendeliome v0.492 DIABLO Zornitza Stark Mode of inheritance for gene: DIABLO was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.491 DIABLO Zornitza Stark Classified gene: DIABLO as Red List (low evidence)
Mendeliome v0.491 DIABLO Zornitza Stark Gene: diablo has been classified as Red List (Low Evidence).
Mendeliome v0.490 DIABLO Zornitza Stark reviewed gene: DIABLO: Rating: RED; Mode of pathogenicity: None; Publications: 21722859, 10929711; Phenotypes: Deafness, autosomal dominant 64, MIM# 614152; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.116 DIABLO Zornitza Stark Marked gene: DIABLO as ready
Deafness_IsolatedAndComplex v0.116 DIABLO Zornitza Stark Gene: diablo has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.116 DIABLO Zornitza Stark Mode of inheritance for gene: DIABLO was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.115 DIABLO Zornitza Stark Publications for gene: DIABLO were set to
Deafness_IsolatedAndComplex v0.114 DIABLO Zornitza Stark Phenotypes for gene: DIABLO were changed from to Deafness, autosomal dominant 64, MIM# 614152
Deafness_IsolatedAndComplex v0.113 DIABLO Zornitza Stark Classified gene: DIABLO as Red List (low evidence)
Deafness_IsolatedAndComplex v0.113 DIABLO Zornitza Stark Gene: diablo has been classified as Red List (Low Evidence).
Mendeliome v0.490 DIAPH3 Zornitza Stark Marked gene: DIAPH3 as ready
Mendeliome v0.490 DIAPH3 Zornitza Stark Gene: diaph3 has been classified as Red List (Low Evidence).
Mendeliome v0.490 DIAPH3 Zornitza Stark Phenotypes for gene: DIAPH3 were changed from to Auditory neuropathy, autosomal dominant, 1, MIM#609129
Mendeliome v0.489 DIAPH3 Zornitza Stark Mode of inheritance for gene: DIAPH3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.488 DIAPH3 Zornitza Stark Publications for gene: DIAPH3 were set to
Mendeliome v0.487 DIAPH3 Zornitza Stark Classified gene: DIAPH3 as Red List (low evidence)
Mendeliome v0.487 DIAPH3 Zornitza Stark Gene: diaph3 has been classified as Red List (Low Evidence).
Mendeliome v0.486 DIAPH3 Zornitza Stark reviewed gene: DIAPH3: Rating: RED; Mode of pathogenicity: None; Publications: 23441200, 20624953; Phenotypes: Auditory neuropathy, autosomal dominant, 1, MIM#609129; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1452 DMXL2 Zornitza Stark Marked gene: DMXL2 as ready
Intellectual disability syndromic and non-syndromic v0.1452 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1452 DMXL2 Zornitza Stark Classified gene: DMXL2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1452 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1451 DMXL2 Zornitza Stark gene: DMXL2 was added
gene: DMXL2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: DMXL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMXL2 were set to 31688942; 30237576
Phenotypes for gene: DMXL2 were set to Epileptic encephalopathy, early infantile, 81, MIM# 618663
Review for gene: DMXL2 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Deafness_IsolatedAndComplex v0.112 DMXL2 Zornitza Stark Marked gene: DMXL2 as ready
Deafness_IsolatedAndComplex v0.112 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.59 DMXL2 Zornitza Stark Classified gene: DMXL2 as Green List (high evidence)
Genetic Epilepsy v0.59 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
Mendeliome v0.486 DMXL2 Zornitza Stark Marked gene: DMXL2 as ready
Mendeliome v0.486 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
Mendeliome v0.486 DMXL2 Zornitza Stark Classified gene: DMXL2 as Green List (high evidence)
Mendeliome v0.486 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
Mendeliome v0.485 DMXL2 Zornitza Stark gene: DMXL2 was added
gene: DMXL2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: DMXL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMXL2 were set to 31688942; 30237576
Phenotypes for gene: DMXL2 were set to Epileptic encephalopathy, early infantile, 81, MIM# 618663
Review for gene: DMXL2 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Genetic Epilepsy v0.58 DMXL2 Zornitza Stark gene: DMXL2 was added
gene: DMXL2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: DMXL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMXL2 were set to 31688942; 30237576
Phenotypes for gene: DMXL2 were set to Epileptic encephalopathy, early infantile, 81, MIM# 618663
Review for gene: DMXL2 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Deafness_IsolatedAndComplex v0.112 DMXL2 Zornitza Stark Classified gene: DMXL2 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.112 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
Mendeliome v0.484 ELMOD3 Zornitza Stark Marked gene: ELMOD3 as ready
Mendeliome v0.484 ELMOD3 Zornitza Stark Gene: elmod3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.484 ELMOD3 Zornitza Stark Phenotypes for gene: ELMOD3 were changed from to Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant
Mendeliome v0.483 ELMOD3 Zornitza Stark Publications for gene: ELMOD3 were set to
Mendeliome v0.482 ELMOD3 Zornitza Stark Mode of inheritance for gene: ELMOD3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.481 ELMOD3 Zornitza Stark Classified gene: ELMOD3 as Amber List (moderate evidence)
Mendeliome v0.481 ELMOD3 Zornitza Stark Gene: elmod3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.480 ELMOD3 Zornitza Stark reviewed gene: ELMOD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 24039609, 31628468, 30284680, 29713870; Phenotypes: Deafness, autosomal recessive 88, MIM# 615429, Deafness, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.111 EPS8 Zornitza Stark Marked gene: EPS8 as ready
Deafness_IsolatedAndComplex v0.111 EPS8 Zornitza Stark Gene: eps8 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.111 EPS8 Zornitza Stark Phenotypes for gene: EPS8 were changed from to Deafness, autosomal recessive 102, MIM# 615974
Deafness_IsolatedAndComplex v0.110 EPS8 Zornitza Stark Publications for gene: EPS8 were set to
Deafness_IsolatedAndComplex v0.109 EPS8 Zornitza Stark Mode of inheritance for gene: EPS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.480 EPS8L2 Zornitza Stark Marked gene: EPS8L2 as ready
Mendeliome v0.480 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Green List (High Evidence).
Mendeliome v0.480 EPS8L2 Zornitza Stark Classified gene: EPS8L2 as Green List (high evidence)
Mendeliome v0.480 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Green List (High Evidence).
Mendeliome v0.479 EPS8L2 Zornitza Stark gene: EPS8L2 was added
gene: EPS8L2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: EPS8L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPS8L2 were set to 26282398; 23918390; 28281779
Phenotypes for gene: EPS8L2 were set to Deafness autosomal recessive 106, MIM# 617637
Review for gene: EPS8L2 was set to GREEN
Added comment: Two unrelated families and a mouse model.
Sources: Expert list
Mendeliome v0.478 GRXCR2 Zornitza Stark Marked gene: GRXCR2 as ready
Mendeliome v0.478 GRXCR2 Zornitza Stark Gene: grxcr2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.478 GRXCR2 Zornitza Stark Phenotypes for gene: GRXCR2 were changed from to Deafness, autosomal recessive 101, MIM# 615837
Deafness_IsolatedAndComplex v0.108 FOXI1 Zornitza Stark Publications for gene: FOXI1 were set to 29242249; 9843211
Deafness_IsolatedAndComplex v0.107 FOXI1 Zornitza Stark Marked gene: FOXI1 as ready
Deafness_IsolatedAndComplex v0.107 FOXI1 Zornitza Stark Gene: foxi1 has been classified as Green List (High Evidence).
Mendeliome v0.477 GRXCR2 Zornitza Stark Publications for gene: GRXCR2 were set to
Mendeliome v0.476 GRXCR2 Zornitza Stark Classified gene: GRXCR2 as Amber List (moderate evidence)
Mendeliome v0.476 GRXCR2 Zornitza Stark Gene: grxcr2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.475 GRXCR2 Zornitza Stark reviewed gene: GRXCR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24619944; Phenotypes: Deafness, autosomal recessive 101, MIM# 615837; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.107 FOXI1 Zornitza Stark Publications for gene: FOXI1 were set to 29242249; 9843211
Deafness_IsolatedAndComplex v0.106 FOXI1 Zornitza Stark Publications for gene: FOXI1 were set to
Deafness_IsolatedAndComplex v0.106 GRXCR2 Zornitza Stark Publications for gene: GRXCR2 were set to 24619944
Deafness_IsolatedAndComplex v0.106 FOXI1 Zornitza Stark Phenotypes for gene: FOXI1 were changed from sensorineural deafness and distal renal tubular acidosis to Enlarged vestibular aqueduct, MIM# 600791
Deafness_IsolatedAndComplex v0.105 GRXCR2 Zornitza Stark Marked gene: GRXCR2 as ready
Deafness_IsolatedAndComplex v0.105 GRXCR2 Zornitza Stark Gene: grxcr2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.105 FOXI1 Zornitza Stark Phenotypes for gene: FOXI1 were changed from to sensorineural deafness and distal renal tubular acidosis
Deafness_IsolatedAndComplex v0.104 FOXI1 Zornitza Stark Mode of inheritance for gene: FOXI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.103 GRXCR2 Zornitza Stark Mode of inheritance for gene: GRXCR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.102 GRXCR2 Zornitza Stark Publications for gene: GRXCR2 were set to
Deafness_IsolatedAndComplex v0.101 GRXCR2 Zornitza Stark Phenotypes for gene: GRXCR2 were changed from to Deafness, autosomal recessive 101, MIM# 615837
Deafness_IsolatedAndComplex v0.100 GRXCR2 Zornitza Stark Classified gene: GRXCR2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.100 GRXCR2 Zornitza Stark Gene: grxcr2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.475 HARS Zornitza Stark Phenotypes for gene: HARS were changed from to Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625
Mendeliome v0.474 HARS Zornitza Stark Publications for gene: HARS were set to
Mendeliome v0.474 HARS Zornitza Stark Mode of inheritance for gene: HARS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.473 HARS Zornitza Stark reviewed gene: HARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 26072516; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.99 HARS2 Zornitza Stark Marked gene: HARS2 as ready
Deafness_IsolatedAndComplex v0.99 HARS2 Zornitza Stark Gene: hars2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.99 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from Perrault syndrome 2, MIM# 614926 to Perrault syndrome 2, MIM# 614926
Deafness_IsolatedAndComplex v0.98 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from to Perrault syndrome 2, MIM# 614926
Deafness_IsolatedAndComplex v0.97 HARS2 Zornitza Stark Publications for gene: HARS2 were set to
Deafness_IsolatedAndComplex v0.97 HARS2 Zornitza Stark Mode of inheritance for gene: HARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.96 KARS Zornitza Stark Marked gene: KARS as ready
Deafness_IsolatedAndComplex v0.96 KARS Zornitza Stark Gene: kars has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.96 KARS Zornitza Stark Phenotypes for gene: KARS were changed from to Deafness, autosomal recessive 89, MIM# 613916
Deafness_IsolatedAndComplex v0.95 KARS Zornitza Stark Publications for gene: KARS were set to
Deafness_IsolatedAndComplex v0.94 KARS Zornitza Stark Mode of inheritance for gene: KARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.93 KCNJ10 Zornitza Stark Marked gene: KCNJ10 as ready
Deafness_IsolatedAndComplex v0.93 KCNJ10 Zornitza Stark Added comment: Comment when marking as ready: Note that it is the association with isolated deafness that is disputed. There is ample evidence that bi-allelic variants cause syndromic deafness.
Deafness_IsolatedAndComplex v0.93 KCNJ10 Zornitza Stark Gene: kcnj10 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.93 KCNJ10 Zornitza Stark Phenotypes for gene: KCNJ10 were changed from to SESAME syndrome, MIM# 612780
Deafness_IsolatedAndComplex v0.92 KCNJ10 Zornitza Stark Publications for gene: KCNJ10 were set to
Deafness_IsolatedAndComplex v0.91 KCNJ10 Zornitza Stark Mode of inheritance for gene: KCNJ10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.90 LARS2 Zornitza Stark Marked gene: LARS2 as ready
Deafness_IsolatedAndComplex v0.90 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.90 LARS2 Zornitza Stark Phenotypes for gene: LARS2 were changed from to Perrault syndrome 4, MIM#615300
Deafness_IsolatedAndComplex v0.89 LARS2 Zornitza Stark Mode of inheritance for gene: LARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.473 KITLG Zornitza Stark Marked gene: KITLG as ready
Mendeliome v0.473 KITLG Zornitza Stark Gene: kitlg has been classified as Amber List (Moderate Evidence).
Mendeliome v0.473 KITLG Zornitza Stark Mode of inheritance for gene: KITLG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.472 KITLG Zornitza Stark Publications for gene: KITLG were set to
Mendeliome v0.471 KITLG Zornitza Stark Phenotypes for gene: KITLG were changed from to Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697
Mendeliome v0.470 KITLG Zornitza Stark Classified gene: KITLG as Amber List (moderate evidence)
Mendeliome v0.470 KITLG Zornitza Stark Gene: kitlg has been classified as Amber List (Moderate Evidence).
Mendeliome v0.469 KITLG Zornitza Stark reviewed gene: KITLG: Rating: AMBER; Mode of pathogenicity: None; Publications: 26522471; Phenotypes: Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.88 MCM2 Zornitza Stark Marked gene: MCM2 as ready
Deafness_IsolatedAndComplex v0.88 MCM2 Zornitza Stark Gene: mcm2 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.88 MCM2 Zornitza Stark Classified gene: MCM2 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.88 MCM2 Zornitza Stark Gene: mcm2 has been classified as Red List (Low Evidence).
Autism v0.19 MET Zornitza Stark Marked gene: MET as ready
Autism v0.19 MET Zornitza Stark Gene: met has been classified as Red List (Low Evidence).
Autism v0.19 MET Zornitza Stark Phenotypes for gene: MET were changed from to ?Deafness, autosomal recessive 97, OMIM #616705; {Osteofibrous dysplasia, susceptibility to}, OMIM #607278
Autism v0.19 MET Zornitza Stark Mode of inheritance for gene: MET was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autism v0.19 MET Zornitza Stark Classified gene: MET as Red List (low evidence)
Autism v0.19 MET Zornitza Stark Gene: met has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.87 MIR96 Zornitza Stark Marked gene: MIR96 as ready
Deafness_IsolatedAndComplex v0.87 MIR96 Zornitza Stark Gene: mir96 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.87 MIR96 Zornitza Stark Phenotypes for gene: MIR96 were changed from Autosomal dominant hearing loss to Deafness, autosomal dominant 50, MIM# 613074
Mendeliome v0.469 MIR96 Zornitza Stark Phenotypes for gene: MIR96 were changed from to Deafness, autosomal dominant 50, MIM# 613074
Mendeliome v0.468 MIR96 Zornitza Stark Publications for gene: MIR96 were set to
Mendeliome v0.467 MIR96 Zornitza Stark Mode of inheritance for gene: MIR96 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.466 MIR96 Zornitza Stark Classified gene: MIR96 as Amber List (moderate evidence)
Mendeliome v0.466 MIR96 Zornitza Stark Gene: mir96 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.465 MIR96 Zornitza Stark reviewed gene: MIR96: Rating: AMBER; Mode of pathogenicity: None; Publications: 19363479, 29325119; Phenotypes: Deafness, autosomal dominant 50, MIM# 613074; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.86 MIR96 Zornitza Stark Marked gene: MIR96 as ready
Deafness_IsolatedAndComplex v0.86 MIR96 Zornitza Stark Gene: mir96 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.86 MIR96 Zornitza Stark Phenotypes for gene: MIR96 were changed from to Autosomal dominant hearing loss
Deafness_IsolatedAndComplex v0.85 MIR96 Zornitza Stark Publications for gene: MIR96 were set to
Deafness_IsolatedAndComplex v0.85 MIR96 Zornitza Stark Mode of inheritance for gene: MIR96 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.84 MIR96 Zornitza Stark Classified gene: MIR96 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.84 MIR96 Zornitza Stark Gene: mir96 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.83 MYO3A Zornitza Stark reviewed gene: MYO3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 21165622, 26754646, 23990876; Phenotypes: Deafness, autosomal recessive 30, MIM# 607101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.83 MYH14 Zornitza Stark Marked gene: MYH14 as ready
Deafness_IsolatedAndComplex v0.83 MYH14 Zornitza Stark Gene: myh14 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.83 MYH14 Zornitza Stark Phenotypes for gene: MYH14 were changed from Deafness, autosomal dominant 4A, MIM# 600652 to Deafness, autosomal dominant 4A, MIM# 600652
Deafness_IsolatedAndComplex v0.82 MYH14 Zornitza Stark Phenotypes for gene: MYH14 were changed from to Deafness, autosomal dominant 4A, MIM# 600652
Deafness_IsolatedAndComplex v0.82 MYH14 Zornitza Stark Mode of inheritance for gene: MYH14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.81 MYH14 Zornitza Stark reviewed gene: MYH14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 4A, MIM# 600652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.81 MIR96 Lilian Downie reviewed gene: MIR96: Rating: AMBER; Mode of pathogenicity: None; Publications: 19363479, 29325119; Phenotypes: Autosomal dominant hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.81 MSRB3 Zornitza Stark Marked gene: MSRB3 as ready
Deafness_IsolatedAndComplex v0.81 MSRB3 Zornitza Stark Gene: msrb3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.81 MSRB3 Zornitza Stark Phenotypes for gene: MSRB3 were changed from to Deafness, autosomal recessive 74, MIM# 613718
Deafness_IsolatedAndComplex v0.80 MSRB3 Zornitza Stark Publications for gene: MSRB3 were set to
Deafness_IsolatedAndComplex v0.79 MSRB3 Zornitza Stark reviewed gene: MSRB3: Rating: ; Mode of pathogenicity: None; Publications: 19650862, 24191262, 21185009; Phenotypes: Deafness, autosomal recessive 74, MIM# 613718; Mode of inheritance: None
Deafness_IsolatedAndComplex v0.79 MET Zornitza Stark Marked gene: MET as ready
Deafness_IsolatedAndComplex v0.79 MET Zornitza Stark Gene: met has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.79 MET Zornitza Stark gene: MET was added
gene: MET was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: MET was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MET were set to 25941349; 31801140
Phenotypes for gene: MET were set to Deafness, autosomal recessive 97, MIM# 616705
Review for gene: MET was set to RED
Added comment: Two families reported, no functional data.
Sources: Expert list
Deafness_IsolatedAndComplex v0.78 MCM2 Lilian Downie gene: MCM2 was added
gene: MCM2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: MCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MCM2 were set to 26196677
Phenotypes for gene: MCM2 were set to Autosomal dominant hearing loss
Review for gene: MCM2 was set to RED
Added comment: One family, expression studies.
Sources: Expert list
Deafness_IsolatedAndComplex v0.78 KITLG Zornitza Stark Marked gene: KITLG as ready
Deafness_IsolatedAndComplex v0.78 KITLG Zornitza Stark Gene: kitlg has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.78 KITLG Zornitza Stark Classified gene: KITLG as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.78 KITLG Zornitza Stark Gene: kitlg has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.77 LARS2 Lilian Downie reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23541342, 27650058, 26970254, 26657938, 28832386, 28000701, 29205794; Phenotypes: Perrault syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.77 KITLG Zornitza Stark gene: KITLG was added
gene: KITLG was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: KITLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KITLG were set to 26522471
Phenotypes for gene: KITLG were set to Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697
Review for gene: KITLG was set to AMBER
Added comment: Two unrelated families, limited functional data.
Sources: Expert list
Deafness_IsolatedAndComplex v0.76 KCNJ10 Lilian Downie reviewed gene: KCNJ10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Deafness_IsolatedAndComplex v0.76 KCNE1 Zornitza Stark Marked gene: KCNE1 as ready
Deafness_IsolatedAndComplex v0.76 KCNE1 Zornitza Stark Gene: kcne1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.76 KCNE1 Zornitza Stark Phenotypes for gene: KCNE1 were changed from Jervell and Lange-Nielsen syndrome 2, MIM# 612347 to Jervell and Lange-Nielsen syndrome 2, MIM# 612347
Deafness_IsolatedAndComplex v0.75 KCNE1 Zornitza Stark Phenotypes for gene: KCNE1 were changed from to Jervell and Lange-Nielsen syndrome 2, MIM# 612347
Deafness_IsolatedAndComplex v0.75 KCNE1 Zornitza Stark Mode of inheritance for gene: KCNE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.74 KCNE1 Zornitza Stark reviewed gene: KCNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Jervell and Lange-Nielsen syndrome 2, MIM# 612347; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.74 KARS Lilian Downie reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 23768514, 23768514, 14975237; Phenotypes: autosomal recessive sensorineural hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.74 HOMER2 Zornitza Stark Marked gene: HOMER2 as ready
Deafness_IsolatedAndComplex v0.74 HOMER2 Zornitza Stark Gene: homer2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.74 HOMER2 Zornitza Stark Phenotypes for gene: HOMER2 were changed from to Deafness, autosomal dominant 68, MIM# 616707
Deafness_IsolatedAndComplex v0.73 HOMER2 Zornitza Stark Publications for gene: HOMER2 were set to
Deafness_IsolatedAndComplex v0.72 HOMER2 Zornitza Stark reviewed gene: HOMER2: Rating: ; Mode of pathogenicity: None; Publications: 25816005, 30047143, 25816005; Phenotypes: Deafness, autosomal dominant 68, MIM# 616707; Mode of inheritance: None
Deafness_IsolatedAndComplex v0.72 HARS2 Lilian Downie reviewed gene: HARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21464306, 27650058, 31827252, 31486067; Phenotypes: Perrault syndrome, autosomal recessive sensorineural hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.72 HGF Zornitza Stark Marked gene: HGF as ready
Deafness_IsolatedAndComplex v0.72 HGF Zornitza Stark Gene: hgf has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.72 HGF Zornitza Stark Phenotypes for gene: HGF were changed from to Deafness, autosomal recessive 39, MIM# 608265
Deafness_IsolatedAndComplex v0.71 HGF Zornitza Stark reviewed gene: HGF: Rating: GREEN; Mode of pathogenicity: None; Publications: 19576567; Phenotypes: Deafness, autosomal recessive 39, MIM# 608265; Mode of inheritance: None
Deafness_IsolatedAndComplex v0.71 HARS Zornitza Stark Publications for gene: HARS were set to 22279524
Deafness_IsolatedAndComplex v0.70 HARS Zornitza Stark Marked gene: HARS as ready
Deafness_IsolatedAndComplex v0.70 HARS Zornitza Stark Gene: hars has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.70 HARS Zornitza Stark Phenotypes for gene: HARS were changed from Usher syndrome type 3B, MIM# 614504 to Usher syndrome type 3B, MIM# 614504
Deafness_IsolatedAndComplex v0.69 HARS Zornitza Stark Mode of inheritance for gene: HARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.69 HARS Zornitza Stark Phenotypes for gene: HARS were changed from to Usher syndrome type 3B, MIM# 614504
Deafness_IsolatedAndComplex v0.68 GRXCR2 Lilian Downie changed review comment from: Single family with multiple sibs, function studies.; to: Single family with multiple sibs, function studies. 'Moderate' classification from ClinGen expert panel.
Deafness_IsolatedAndComplex v0.68 HARS Zornitza Stark Publications for gene: HARS were set to
Deafness_IsolatedAndComplex v0.68 HARS Zornitza Stark Classified gene: HARS as Red List (low evidence)
Deafness_IsolatedAndComplex v0.68 HARS Zornitza Stark Gene: hars has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.67 GRXCR2 Lilian Downie reviewed gene: GRXCR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24619944; Phenotypes: autosomal recessive sensorineural hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.67 HARS Zornitza Stark reviewed gene: HARS: Rating: RED; Mode of pathogenicity: None; Publications: 22279524; Phenotypes: Usher syndrome type 3B, MIM# 614504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.67 GRHL2 Zornitza Stark Marked gene: GRHL2 as ready
Deafness_IsolatedAndComplex v0.67 GRHL2 Zornitza Stark Gene: grhl2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.67 GRHL2 Zornitza Stark Phenotypes for gene: GRHL2 were changed from Deafness, autosomal dominant 28, MIM# 608641 to Deafness, autosomal dominant 28, MIM# 608641
Deafness_IsolatedAndComplex v0.66 GRHL2 Zornitza Stark Mode of inheritance for gene: GRHL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.65 FOXI1 Lilian Downie reviewed gene: FOXI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29242249, 9843211; Phenotypes: sensorineural deafness and distal renal tubular acidosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.65 GRHL2 Zornitza Stark Phenotypes for gene: GRHL2 were changed from to Deafness, autosomal dominant 28, MIM# 608641
Deafness_IsolatedAndComplex v0.65 GRHL2 Zornitza Stark Mode of inheritance for gene: GRHL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.64 GRHL2 Zornitza Stark reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 28, MIM# 608641; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.64 GJB3 Zornitza Stark Phenotypes for gene: GJB3 were changed from Deafness, autosomal dominant 2B, MIM# 612644 to Deafness, autosomal dominant 2B, MIM# 612644
Deafness_IsolatedAndComplex v0.64 GJB3 Zornitza Stark Marked gene: GJB3 as ready
Deafness_IsolatedAndComplex v0.64 GJB3 Zornitza Stark Gene: gjb3 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.64 GJB3 Zornitza Stark Publications for gene: GJB3 were set to 9843210
Deafness_IsolatedAndComplex v0.63 GJB3 Zornitza Stark Phenotypes for gene: GJB3 were changed from to Deafness, autosomal dominant 2B, MIM# 612644
Deafness_IsolatedAndComplex v0.63 GJB3 Zornitza Stark Publications for gene: GJB3 were set to
Deafness_IsolatedAndComplex v0.62 GJB3 Zornitza Stark Mode of inheritance for gene: GJB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.62 GJB3 Zornitza Stark Classified gene: GJB3 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.62 GJB3 Zornitza Stark Gene: gjb3 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.61 GJB3 Zornitza Stark reviewed gene: GJB3: Rating: RED; Mode of pathogenicity: None; Publications: 9843210; Phenotypes: Deafness, autosomal dominant 2B, MIM# 612644; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.61 EPS8L2 Zornitza Stark Marked gene: EPS8L2 as ready
Deafness_IsolatedAndComplex v0.61 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.61 EPS8L2 Zornitza Stark Classified gene: EPS8L2 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.61 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.60 EPS8L2 Zornitza Stark gene: EPS8L2 was added
gene: EPS8L2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: EPS8L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPS8L2 were set to 26282398; 23918390; 28281779
Phenotypes for gene: EPS8L2 were set to Deafness autosomal recessive 106, MIM# 617637
Review for gene: EPS8L2 was set to GREEN
Added comment: Two unrelated families and a mouse model.
Sources: Expert list
Deafness_IsolatedAndComplex v0.59 EPS8 Lilian Downie reviewed gene: EPS8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24741995; Phenotypes: Nonsyndromic sensorineural deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.59 ELMOD3 Zornitza Stark Phenotypes for gene: ELMOD3 were changed from Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant to Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant
Deafness_IsolatedAndComplex v0.59 ELMOD3 Zornitza Stark Marked gene: ELMOD3 as ready
Deafness_IsolatedAndComplex v0.59 ELMOD3 Zornitza Stark Gene: elmod3 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.59 ELMOD3 Zornitza Stark Phenotypes for gene: ELMOD3 were changed from Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant to Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant
Deafness_IsolatedAndComplex v0.58 ELMOD3 Zornitza Stark Phenotypes for gene: ELMOD3 were changed from to Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant
Deafness_IsolatedAndComplex v0.58 ELMOD3 Zornitza Stark Publications for gene: ELMOD3 were set to
Deafness_IsolatedAndComplex v0.57 ELMOD3 Zornitza Stark Mode of inheritance for gene: ELMOD3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.56 ELMOD3 Zornitza Stark Classified gene: ELMOD3 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.56 ELMOD3 Zornitza Stark Gene: elmod3 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.55 ELMOD3 Zornitza Stark reviewed gene: ELMOD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 24039609, 31628468, 30284680, 29713870; Phenotypes: Deafness, autosomal recessive 88, MIM# 615429, Deafness, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.55 DMXL2 Lilian Downie changed review comment from: Moderate by ClinGen expert panel classification but single large family and functional studies only (AD). Single paper with AR phenotype in 3 unrelated families.
Sources: Expert list; to: Moderate by ClinGen expert panel classification but single large family and functional studies only (AD). As a dominant cause of non syndromic deafness this gene is RED. Single paper with AR phenotype in 3 unrelated families - for the AR phenotype is GREEN.
Sources: Expert list
Deafness_IsolatedAndComplex v0.55 DMXL2 Lilian Downie edited their review of gene: DMXL2: Changed rating: GREEN
Deafness_IsolatedAndComplex v0.55 DMXL2 Lilian Downie gene: DMXL2 was added
gene: DMXL2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: DMXL2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DMXL2 were set to 27657680; 22875945; 31688942
Phenotypes for gene: DMXL2 were set to Autosomal dominant hearing loss; autosomal recessive EE with deafness
Review for gene: DMXL2 was set to RED
Added comment: Moderate by ClinGen expert panel classification but single large family and functional studies only (AD). Single paper with AR phenotype in 3 unrelated families.
Sources: Expert list
Deafness_IsolatedAndComplex v0.55 EDNRB Zornitza Stark Marked gene: EDNRB as ready
Deafness_IsolatedAndComplex v0.55 EDNRB Zornitza Stark Gene: ednrb has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.55 EDNRB Zornitza Stark Phenotypes for gene: EDNRB were changed from to Waardenburg syndrome, type 4A, MIM# 277580
Deafness_IsolatedAndComplex v0.54 EDNRB Zornitza Stark Mode of inheritance for gene: EDNRB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.53 EDNRB Zornitza Stark reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 4A, MIM# 277580; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.53 EDN3 Zornitza Stark Phenotypes for gene: EDN3 were changed from Waardenburg syndrome, type 4B, MIM# 613265 to Waardenburg syndrome, type 4B, MIM# 613265
Deafness_IsolatedAndComplex v0.52 EDN3 Zornitza Stark Marked gene: EDN3 as ready
Deafness_IsolatedAndComplex v0.52 EDN3 Zornitza Stark Gene: edn3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.52 EDN3 Zornitza Stark Phenotypes for gene: EDN3 were changed from to Waardenburg syndrome, type 4B, MIM# 613265
Deafness_IsolatedAndComplex v0.51 EDN3 Zornitza Stark Publications for gene: EDN3 were set to
Deafness_IsolatedAndComplex v0.50 EDN3 Zornitza Stark Mode of inheritance for gene: EDN3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.49 EDN3 Zornitza Stark reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 8630502, 11303518, 19764030; Phenotypes: Waardenburg syndrome, type 4B, MIM# 613265; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.49 DIAPH3 Zornitza Stark Marked gene: DIAPH3 as ready
Deafness_IsolatedAndComplex v0.49 DIAPH3 Zornitza Stark Gene: diaph3 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.49 DIAPH3 Zornitza Stark Phenotypes for gene: DIAPH3 were changed from Auditory neuropathy, autosomal dominant, 1, MIM#609129 to Auditory neuropathy, autosomal dominant, 1, MIM#609129
Deafness_IsolatedAndComplex v0.48 DIAPH3 Zornitza Stark Phenotypes for gene: DIAPH3 were changed from to Auditory neuropathy, autosomal dominant, 1, MIM#609129
Deafness_IsolatedAndComplex v0.48 DIABLO Lilian Downie reviewed gene: DIABLO: Rating: RED; Mode of pathogenicity: Other; Publications: 21722859, 10929711; Phenotypes: Autosomal dominant hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.48 DIAPH3 Zornitza Stark Publications for gene: DIAPH3 were set to
Deafness_IsolatedAndComplex v0.47 DIAPH3 Zornitza Stark Mode of inheritance for gene: DIAPH3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.46 DIAPH3 Zornitza Stark Classified gene: DIAPH3 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.46 DIAPH3 Zornitza Stark Gene: diaph3 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.45 DIAPH3 Zornitza Stark reviewed gene: DIAPH3: Rating: RED; Mode of pathogenicity: None; Publications: 23441200, 20624953; Phenotypes: Auditory neuropathy, autosomal dominant, 1, MIM#609129; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.45 CRYM Lilian Downie reviewed gene: CRYM: Rating: AMBER; Mode of pathogenicity: None; Publications: 12471561, 16740909, 18448257, 24676347, 26915689; Phenotypes: Autosomal dominant hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.45 DCDC2 Zornitza Stark Marked gene: DCDC2 as ready
Deafness_IsolatedAndComplex v0.45 DCDC2 Zornitza Stark Gene: dcdc2 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.45 DCDC2 Zornitza Stark gene: DCDC2 was added
gene: DCDC2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: DCDC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCDC2 were set to 25601850; 22558177; 25130614
Phenotypes for gene: DCDC2 were set to Deafness, autosomal recessive 66, MIM# 610212
Review for gene: DCDC2 was set to RED
Added comment: Single family reported with deafness, some supportive functional data. Rated as LIMITED by ClinGen.
Sources: Expert list
Deafness_IsolatedAndComplex v0.44 COL4A6 Zornitza Stark Phenotypes for gene: COL4A6 were changed from Deafness, X-linked 6, MIM# 300914 to Deafness, X-linked 6, MIM# 300914
Deafness_IsolatedAndComplex v0.44 COL4A6 Zornitza Stark Marked gene: COL4A6 as ready
Deafness_IsolatedAndComplex v0.44 COL4A6 Zornitza Stark Gene: col4a6 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.44 COL4A6 Zornitza Stark Publications for gene: COL4A6 were set to 23714752
Deafness_IsolatedAndComplex v0.43 COL4A6 Zornitza Stark Phenotypes for gene: COL4A6 were changed from to Deafness, X-linked 6, MIM# 300914
Deafness_IsolatedAndComplex v0.43 COL4A6 Zornitza Stark Publications for gene: COL4A6 were set to
Deafness_IsolatedAndComplex v0.43 COL4A6 Zornitza Stark Mode of inheritance for gene: COL4A6 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 v0.42 COL4A6 Zornitza Stark Classified gene: COL4A6 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.42 COL4A6 Zornitza Stark Gene: col4a6 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.41 COL4A6 Zornitza Stark reviewed gene: COL4A6: Rating: RED; Mode of pathogenicity: None; Publications: 23714752; Phenotypes: Deafness, X-linked 6, MIM# 300914; 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 v0.41 CEP78 Lilian Downie gene: CEP78 was added
gene: CEP78 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP78 were set to 28005958; 27588451; 27588452; 27627988
Phenotypes for gene: CEP78 were set to Cone-rod dystrophy and hearing loss
Review for gene: CEP78 was set to GREEN
Added comment: Classified as 'Strong'by ClinGen hearing loss expert panel. Atypical Usher phenotype.
Sources: Expert list
Deafness_IsolatedAndComplex v0.41 CLIC5 Zornitza Stark Marked gene: CLIC5 as ready
Deafness_IsolatedAndComplex v0.41 CLIC5 Zornitza Stark Gene: clic5 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.41 CLIC5 Zornitza Stark Phenotypes for gene: CLIC5 were changed from Deafness, autosomal recessive 103, MIM# 616042 to Deafness, autosomal recessive 103, MIM# 616042
Deafness_IsolatedAndComplex v0.40 CLIC5 Zornitza Stark Phenotypes for gene: CLIC5 were changed from Deafness, autosomal recessive 103, MIM# 616042 to Deafness, autosomal recessive 103, MIM# 616042
Deafness_IsolatedAndComplex v0.39 CLIC5 Zornitza Stark Phenotypes for gene: CLIC5 were changed from to Deafness, autosomal recessive 103, MIM# 616042
Deafness_IsolatedAndComplex v0.39 CLIC5 Zornitza Stark Publications for gene: CLIC5 were set to 24781754; 17021174
Deafness_IsolatedAndComplex v0.38 CLIC5 Zornitza Stark Publications for gene: CLIC5 were set to
Deafness_IsolatedAndComplex v0.38 CLIC5 Zornitza Stark Mode of inheritance for gene: CLIC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.37 CLIC5 Zornitza Stark Classified gene: CLIC5 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.37 CLIC5 Zornitza Stark Gene: clic5 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.36 CLIC5 Zornitza Stark reviewed gene: CLIC5: Rating: AMBER; Mode of pathogenicity: None; Publications: 24781754, 17021174; Phenotypes: Deafness, autosomal recessive 103, MIM# 616042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.36 CISD2 Zornitza Stark Phenotypes for gene: CISD2 were changed from Wolfram syndrome 2, MIM# 604928 to Wolfram syndrome 2, MIM# 604928
Deafness_IsolatedAndComplex v0.35 CISD2 Zornitza Stark Marked gene: CISD2 as ready
Deafness_IsolatedAndComplex v0.35 CISD2 Zornitza Stark Gene: cisd2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.35 CISD2 Zornitza Stark Phenotypes for gene: CISD2 were changed from to Wolfram syndrome 2, MIM# 604928
Deafness_IsolatedAndComplex v0.35 CISD2 Zornitza Stark Mode of inheritance for gene: CISD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.34 CISD2 Zornitza Stark reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolfram syndrome 2, MIM# 604928; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.34 CEACAM16 Zornitza Stark Marked gene: CEACAM16 as ready
Deafness_IsolatedAndComplex v0.34 CEACAM16 Zornitza Stark Gene: ceacam16 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.34 CEACAM16 Zornitza Stark Phenotypes for gene: CEACAM16 were changed from to Deafness, autosomal dominant 4B, MIM# 614614; Deafness, autosomal recessive 113, MIM# 618410
Deafness_IsolatedAndComplex v0.33 CEACAM16 Zornitza Stark Publications for gene: CEACAM16 were set to
Deafness_IsolatedAndComplex v0.32 CEACAM16 Zornitza Stark Mode of inheritance for gene: CEACAM16 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.31 CEACAM16 Zornitza Stark reviewed gene: CEACAM16: Rating: GREEN; Mode of pathogenicity: None; Publications: 21368133, 22544735, 29703829, 25589040, 31249509, 30514912; Phenotypes: Deafness, autosomal dominant 4B, MIM# 614614, Deafness, autosomal recessive 113, MIM# 618410; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.31 CCDC50 Lilian Downie reviewed gene: CCDC50: Rating: AMBER; Mode of pathogenicity: None; Publications: 17503326, 27911912; Phenotypes: Childhood onset deafness, progressive; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.31 CDC14A Zornitza Stark Marked gene: CDC14A as ready
Deafness_IsolatedAndComplex v0.31 CDC14A Zornitza Stark Gene: cdc14a has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.31 CDC14A Zornitza Stark Phenotypes for gene: CDC14A were changed from to Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653
Deafness_IsolatedAndComplex v0.30 CDC14A Zornitza Stark Publications for gene: CDC14A were set to
Deafness_IsolatedAndComplex v0.29 CDC14A Zornitza Stark Mode of inheritance for gene: CDC14A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.28 CDC14A Zornitza Stark reviewed gene: CDC14A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29293958, 27259055; Phenotypes: Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.28 CD164 Zornitza Stark Marked gene: CD164 as ready
Deafness_IsolatedAndComplex v0.28 CD164 Zornitza Stark Gene: cd164 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.28 CD164 Zornitza Stark gene: CD164 was added
gene: CD164 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: CD164 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CD164 were set to 26197441
Phenotypes for gene: CD164 were set to Deafness, autosomal dominant 66, MIM# 616969
Review for gene: CD164 was set to RED
Added comment: Single family reported; rated as LIMITED evidence by ClinGen.
Sources: Expert list
Deafness_IsolatedAndComplex v0.27 CACNA1D Zornitza Stark Marked gene: CACNA1D as ready
Deafness_IsolatedAndComplex v0.27 CACNA1D Zornitza Stark Gene: cacna1d has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.27 CACNA1D Zornitza Stark Phenotypes for gene: CACNA1D were changed from Sinoatrial node dysfunction and deafness, MIM# 614896 to Sinoatrial node dysfunction and deafness, MIM# 614896
Deafness_IsolatedAndComplex v0.26 CACNA1D Zornitza Stark Phenotypes for gene: CACNA1D were changed from to Sinoatrial node dysfunction and deafness, MIM# 614896
Deafness_IsolatedAndComplex v0.26 CACNA1D Zornitza Stark Mode of inheritance for gene: CACNA1D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.25 CACNA1D Zornitza Stark Publications for gene: CACNA1D were set to
Deafness_IsolatedAndComplex v0.24 CACNA1D Zornitza Stark Classified gene: CACNA1D as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.24 CACNA1D Zornitza Stark Gene: cacna1d has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.23 CACNA1D Zornitza Stark reviewed gene: CACNA1D: Rating: AMBER; Mode of pathogenicity: None; Publications: 21131953, 15357422, 22678062; Phenotypes: Sinoatrial node dysfunction and deafness, MIM# 614896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.23 BDP1 Lilian Downie reviewed gene: BDP1: Rating: RED; Mode of pathogenicity: None; Publications: 24312468, 25060281; Phenotypes: Non syndromic hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Macular Dystrophy/Stargardt Disease v0.0 PITPNM3 Bryony Thompson gene: PITPNM3 was added
gene: PITPNM3 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PITPNM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PITPNM3 were set to 17377520; 22405330
Phenotypes for gene: PITPNM3 were set to Cone-rod dystrophy 5, 600977
Macular Dystrophy/Stargardt Disease v0.0 ZFYVE26 Bryony Thompson gene: ZFYVE26 was added
gene: ZFYVE26 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFYVE26 were set to Recessive spastic paraplegia with retinal degeneration
Macular Dystrophy/Stargardt Disease v0.0 TIMP3 Bryony Thompson gene: TIMP3 was added
gene: TIMP3 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TIMP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TIMP3 were set to Sorsby fundus dystrophy
Macular Dystrophy/Stargardt Disease v0.0 RS1 Bryony Thompson gene: RS1 was added
gene: RS1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RS1 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: RS1 were set to Developmental macular and foveal dystrophy (males with foveal schisis)
Macular Dystrophy/Stargardt Disease v0.0 RPGRIP1 Bryony Thompson gene: RPGRIP1 was added
gene: RPGRIP1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1 were set to Leber congenital amaurosis 6, 613826; Cone-rod dystrophy 13, 608194
Macular Dystrophy/Stargardt Disease v0.0 RPGR Bryony Thompson gene: RPGR was added
gene: RPGR was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RPGR was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: RPGR were set to Retinitis pigmentosa 3, 300029; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455; Macular degeneration, X-linked atrophic, 300834; Cone-rod dystrophy, X-linked, 1, 304020
Macular Dystrophy/Stargardt Disease v0.0 RP1L1 Bryony Thompson gene: RP1L1 was added
gene: RP1L1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RP1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RP1L1 were set to Occult macular dystrophy, 613587
Macular Dystrophy/Stargardt Disease v0.0 RLBP1 Bryony Thompson gene: RLBP1 was added
gene: RLBP1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RLBP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RLBP1 were set to Fundus albipunctatus; Newfoundland rod - cone dystrophy; Fundus albipunctatus, 136880; Bothnia retinal dystrophy; Retinitis punctata albescens
Macular Dystrophy/Stargardt Disease v0.0 RDH12 Bryony Thompson gene: RDH12 was added
gene: RDH12 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RDH12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RDH12 were set to Leber congenital amaurosis 13, 612712
Macular Dystrophy/Stargardt Disease v0.0 RBP3 Bryony Thompson gene: RBP3 was added
gene: RBP3 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: RBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBP3 were set to ?Retinitis pigmentosa 66, 615233
Macular Dystrophy/Stargardt Disease v0.0 PRPH2 Bryony Thompson gene: PRPH2 was added
gene: PRPH2 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PRPH2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PRPH2 were set to Leber congenital amaurosis 18, MIM#608133; Macular dystrophy, vitelliform, 3, MIM#608161; Retinitis pigmentosa 7 and digenic form, MIM#608133; Choroidal dystrophy, central areolar 2, MIM#613105; Macular dystrophy, patterned, 1, MIM#169150; Retinitis punctata albescens, MIM#136880
Macular Dystrophy/Stargardt Disease v0.0 PROM1 Bryony Thompson gene: PROM1 was added
gene: PROM1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PROM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PROM1 were set to Retinitis pigmentosa 41, 612095; Cone-rod dystrophy 12, 612657; Stargardt disease 4, 603786; Macular dystrophy, retinal, 2, 608051
Macular Dystrophy/Stargardt Disease v0.0 PRDM13 Bryony Thompson gene: PRDM13 was added
gene: PRDM13 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: PRDM13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRDM13 were set to 29258872; 28973654; 26507665
Phenotypes for gene: PRDM13 were set to Macular dystrophy, North Carolina type, MIM#136550
Macular Dystrophy/Stargardt Disease v0.0 OTX2 Bryony Thompson gene: OTX2 was added
gene: OTX2 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: OTX2 were set to autosomal-dominant pattern dystrophy of the retinal pigment epithelium; early onset retinal dystrophy; Microphthalmia, syndromic 5, 610125
Macular Dystrophy/Stargardt Disease v0.0 MFSD8 Bryony Thompson gene: MFSD8 was added
gene: MFSD8 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7, 610951; Macular dystrophy with central cone involvement, 616170
Macular Dystrophy/Stargardt Disease v0.0 IMPG2 Bryony Thompson gene: IMPG2 was added
gene: IMPG2 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: IMPG2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: IMPG2 were set to Retinitis pigmentosa 56; Maculopathy, IMPG2 - related
Macular Dystrophy/Stargardt Disease v0.0 IMPG1 Bryony Thompson gene: IMPG1 was added
gene: IMPG1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: IMPG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: IMPG1 were set to Macular dystrophy, vitelliform, 4
Macular Dystrophy/Stargardt Disease v0.0 HMCN1 Bryony Thompson gene: HMCN1 was added
gene: HMCN1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HMCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HMCN1 were set to Macular Degeneration
Macular Dystrophy/Stargardt Disease v0.0 GUCA1B Bryony Thompson gene: GUCA1B was added
gene: GUCA1B was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GUCA1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GUCA1B were set to Retinitis pigmentosa 48, 613827
Macular Dystrophy/Stargardt Disease v0.0 FSCN2 Bryony Thompson gene: FSCN2 was added
gene: FSCN2 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FSCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FSCN2 were set to Retinitis pigmentosa 30, 607921
Macular Dystrophy/Stargardt Disease v0.0 ELOVL4 Bryony Thompson gene: ELOVL4 was added
gene: ELOVL4 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ELOVL4 were set to Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110; Stargardt disease 3, 600110; Ichthyosis, spastic quadriplegia, and mental retardation, 614457
Macular Dystrophy/Stargardt Disease v0.0 EFEMP1 Bryony Thompson gene: EFEMP1 was added
gene: EFEMP1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EFEMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EFEMP1 were set to Inherited macular dystrophy (Doyne/dominant drusen)
Macular Dystrophy/Stargardt Disease v0.0 DRAM2 Bryony Thompson gene: DRAM2 was added
gene: DRAM2 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DRAM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DRAM2 were set to Cone-rod dystrophy 21, MIM#616502
Macular Dystrophy/Stargardt Disease v0.0 CTNNA1 Bryony Thompson gene: CTNNA1 was added
gene: CTNNA1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CTNNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CTNNA1 were set to Macular dystrophy, butterfly-shaped pigmentary, 2, MIM#608970
Macular Dystrophy/Stargardt Disease v0.0 CRB1 Bryony Thompson gene: CRB1 was added
gene: CRB1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CRB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRB1 were set to Pigmented paravenous chorioretinal atrophy, 172870; Leber congenital amaurosis 8, 613835; Retinitis pigmentosa-12, autosomal recessive, 600105
Macular Dystrophy/Stargardt Disease v0.0 CNGB3 Bryony Thompson gene: CNGB3 was added
gene: CNGB3 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNGB3 were set to Macular degeneration, juvenile, 248200 -3; Achromatopsia-3, 262300; Stargardt Disease, Recessive
Macular Dystrophy/Stargardt Disease v0.0 CFH Bryony Thompson gene: CFH was added
gene: CFH was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: CFH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CFH were set to {Macular degeneration, age-related, 4} 610698; Basal laminar drusen, 126700
Macular Dystrophy/Stargardt Disease v0.0 CERKL Bryony Thompson gene: CERKL was added
gene: CERKL was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CERKL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CERKL were set to Retinitis pigmentosa 26, 608380
Macular Dystrophy/Stargardt Disease v0.0 CDH3 Bryony Thompson gene: CDH3 was added
gene: CDH3 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH3 were set to Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280; Hypotrichosis, congenital, with juvenile macular dystrophy, 601553
Macular Dystrophy/Stargardt Disease v0.0 C1QTNF5 Bryony Thompson gene: C1QTNF5 was added
gene: C1QTNF5 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: C1QTNF5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: C1QTNF5 were set to Retinal degeneration, late-onset, autosomal dominant, 605670; Retinitis pigmentosa
Macular Dystrophy/Stargardt Disease v0.0 BEST1 Bryony Thompson gene: BEST1 was added
gene: BEST1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: BEST1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: BEST1 were set to Best macular dystrophy, 153700; Vitelliform macular dystrophy, adult-onset, 608161; Vitreoretinochoroidopathy, 193220; Bestrophinopathy, 611809; Maculopathy, bull's-eye; Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1
Macular Dystrophy/Stargardt Disease v0.0 ABCA4 Bryony Thompson gene: ABCA4 was added
gene: ABCA4 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA4 were set to Retinitis pigmentosa 19, 601718; Fundus flavimaculatus, 248200; Retinal dystrophy, early-onset severe, 248200; Macular degeneration, age-related, 2, 153800; Cone-rod dystrophy 3, 604116; Stargardt disease 1, 248200
Macular Dystrophy/Stargardt Disease v0.0 Bryony Thompson Added panel Macular Dystrophy/Stargardt Disease_RMH
Deafness_IsolatedAndComplex v0.23 CABP2 Zornitza Stark Marked gene: CABP2 as ready
Deafness_IsolatedAndComplex v0.23 CABP2 Zornitza Stark Gene: cabp2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.23 CABP2 Zornitza Stark Phenotypes for gene: CABP2 were changed from to Deafness, autosomal recessive 93, MIM# 614899
Deafness_IsolatedAndComplex v0.22 CABP2 Zornitza Stark Publications for gene: CABP2 were set to
Deafness_IsolatedAndComplex v0.21 CABP2 Zornitza Stark Mode of inheritance for gene: CABP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.20 CABP2 Zornitza Stark reviewed gene: CABP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22981119, 31661684, 28183797; Phenotypes: Deafness, autosomal recessive 93, MIM# 614899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.20 ADCY1 Zornitza Stark Marked gene: ADCY1 as ready
Deafness_IsolatedAndComplex v0.20 ADCY1 Zornitza Stark Gene: adcy1 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.20 ADCY1 Zornitza Stark Phenotypes for gene: ADCY1 were changed from Deafness, autosomal recessive 44, MIM# 610154 to Deafness, autosomal recessive 44, MIM# 610154
Deafness_IsolatedAndComplex v0.19 ADCY1 Zornitza Stark Phenotypes for gene: ADCY1 were changed from to Deafness, autosomal recessive 44, MIM# 610154
Deafness_IsolatedAndComplex v0.19 ADCY1 Zornitza Stark Publications for gene: ADCY1 were set to
Deafness_IsolatedAndComplex v0.18 ADCY1 Zornitza Stark Mode of inheritance for gene: ADCY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.17 ADCY1 Zornitza Stark Classified gene: ADCY1 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.17 ADCY1 Zornitza Stark Gene: adcy1 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.16 ADCY1 Zornitza Stark reviewed gene: ADCY1: Rating: RED; Mode of pathogenicity: None; Publications: 24482543; Phenotypes: Deafness, autosomal recessive 44, MIM# 610154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.16 ACTB Zornitza Stark Phenotypes for gene: ACTB were changed from Baraitser-Winter syndrome; Deafness-dystonia syndrome to Baraitser-Winter syndrome; Deafness-dystonia syndrome
Deafness_IsolatedAndComplex v0.15 ACTB Zornitza Stark Marked gene: ACTB as ready
Deafness_IsolatedAndComplex v0.15 ACTB Zornitza Stark Gene: actb has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.15 ACTB Zornitza Stark Phenotypes for gene: ACTB were changed from to Baraitser-Winter syndrome; Deafness-dystonia syndrome
Deafness_IsolatedAndComplex v0.14 ACTB Zornitza Stark Publications for gene: ACTB were set to
Deafness_IsolatedAndComplex v0.13 ACTB Zornitza Stark Mode of pathogenicity for gene: ACTB was changed from to Other
Deafness_IsolatedAndComplex v0.12 ACTB Zornitza Stark Mode of inheritance for gene: ACTB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.18 SHANK1 Sebastian Lunke gene: SHANK1 was added
gene: SHANK1 was added to Autism_VCGS. Sources: Literature
Mode of inheritance for gene: SHANK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SHANK1 were set to 25188300; 22503632
Penetrance for gene: SHANK1 were set to unknown
Review for gene: SHANK1 was set to GREEN
Added comment: SHANK1 missense and deletion variants have been described in multiple male patients (>10) with autism spectrum disorder. Several of the patients analysed in detail had normal intellect using various different IQ tests, with mild to moderately severe ADI-R scores for social, verbal, non-verbal and repetitive behaviour (Leblond et al 2014).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1450 SHANK1 Sebastian Lunke reviewed gene: SHANK1: Rating: RED; Mode of pathogenicity: None; Publications: 22503632, 25188300; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Renal Ciliopathies and Nephronophthisis v0.30 CRB2 Zornitza Stark Marked gene: CRB2 as ready
Renal Ciliopathies and Nephronophthisis v0.30 CRB2 Zornitza Stark Gene: crb2 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.30 CRB2 Zornitza Stark Classified gene: CRB2 as Green List (high evidence)
Renal Ciliopathies and Nephronophthisis v0.30 CRB2 Zornitza Stark Gene: crb2 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.29 CRB2 Zornitza Stark gene: CRB2 was added
gene: CRB2 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert list
Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRB2 were set to 25557780
Phenotypes for gene: CRB2 were set to Ventriculomegaly with cystic kidney disease, MIM# 219730
Review for gene: CRB2 was set to GREEN
Added comment: Three unrelated families described.
Sources: Expert list
Renal Macrocystic Disease v0.15 COL4A1 Zornitza Stark Marked gene: COL4A1 as ready
Renal Macrocystic Disease v0.15 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
Renal Macrocystic Disease v0.15 COL4A1 Zornitza Stark Classified gene: COL4A1 as Green List (high evidence)
Renal Macrocystic Disease v0.15 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
Renal Macrocystic Disease v0.14 COL4A1 Zornitza Stark gene: COL4A1 was added
gene: COL4A1 was added to Renal macrocystic disease_KidGen_VCGS. Sources: Expert list
Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL4A1 were set to 25719457; 15882279
Phenotypes for gene: COL4A1 were set to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM# 611773
Review for gene: COL4A1 was set to GREEN
Added comment: Large renal cysts described in multiple individuals with this condition.
Sources: Expert list
Renal Ciliopathies and Nephronophthisis v0.28 CEP120 Zornitza Stark Marked gene: CEP120 as ready
Renal Ciliopathies and Nephronophthisis v0.28 CEP120 Zornitza Stark Gene: cep120 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.28 CEP120 Zornitza Stark Phenotypes for gene: CEP120 were changed from to Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Renal Ciliopathies and Nephronophthisis v0.27 CEP120 Zornitza Stark Mode of inheritance for gene: CEP120 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.26 CEP120 Zornitza Stark reviewed gene: CEP120: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.26 C5orf42 Zornitza Stark Marked gene: C5orf42 as ready
Renal Ciliopathies and Nephronophthisis v0.26 C5orf42 Zornitza Stark Gene: c5orf42 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.26 C5orf42 Zornitza Stark Phenotypes for gene: C5orf42 were changed from to Joubert syndrome 17, MIM#614615; Orofaciodigital syndrome VI, MIM# 277170
Renal Ciliopathies and Nephronophthisis v0.25 C5orf42 Zornitza Stark Mode of inheritance for gene: C5orf42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.24 C5orf42 Zornitza Stark Classified gene: C5orf42 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.24 C5orf42 Zornitza Stark Gene: c5orf42 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.23 C5orf42 Zornitza Stark reviewed gene: C5orf42: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 17, MIM#614615, Orofaciodigital syndrome VI, MIM# 277170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.23 C2CD3 Zornitza Stark reviewed gene: C2CD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome XIV, MIM# 615948; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.23 BBIP1 Zornitza Stark Marked gene: BBIP1 as ready
Renal Ciliopathies and Nephronophthisis v0.23 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.23 BBIP1 Zornitza Stark Phenotypes for gene: BBIP1 were changed from to Bardet-Biedl syndrome 18, MIM#615995
Renal Ciliopathies and Nephronophthisis v0.22 BBIP1 Zornitza Stark Publications for gene: BBIP1 were set to
Renal Ciliopathies and Nephronophthisis v0.21 BBIP1 Zornitza Stark Mode of inheritance for gene: BBIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.20 BBIP1 Zornitza Stark Classified gene: BBIP1 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.20 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.19 ATXN10 Zornitza Stark Marked gene: ATXN10 as ready
Renal Ciliopathies and Nephronophthisis v0.19 ATXN10 Zornitza Stark Gene: atxn10 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.19 ATXN10 Zornitza Stark Phenotypes for gene: ATXN10 were changed from to Nephronophthisis
Renal Ciliopathies and Nephronophthisis v0.18 ATXN10 Zornitza Stark Publications for gene: ATXN10 were set to
Renal Ciliopathies and Nephronophthisis v0.17 ATXN10 Zornitza Stark Mode of inheritance for gene: ATXN10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.16 ATXN10 Zornitza Stark Classified gene: ATXN10 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.16 ATXN10 Zornitza Stark Gene: atxn10 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.15 ATXN10 Zornitza Stark reviewed gene: ATXN10: Rating: RED; Mode of pathogenicity: None; Publications: 21565611; Phenotypes: Nephronophthisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.465 NUP188 Zornitza Stark Marked gene: NUP188 as ready
Mendeliome v0.465 NUP188 Zornitza Stark Gene: nup188 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.465 NUP188 Zornitza Stark Phenotypes for gene: NUP188 were changed from to microcephaly; ID; cataract
Mendeliome v0.464 NUP188 Zornitza Stark Publications for gene: NUP188 were set to
Mendeliome v0.463 NUP188 Zornitza Stark Mode of inheritance for gene: NUP188 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.462 NUP188 Zornitza Stark Classified gene: NUP188 as Amber List (moderate evidence)
Mendeliome v0.462 NUP188 Zornitza Stark Gene: nup188 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.461 NUP188 Zornitza Stark reviewed gene: NUP188: Rating: AMBER; Mode of pathogenicity: None; Publications: https://doi.org/10.1159/000504818, 28726809; Phenotypes: microcephaly, ID, cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.8 NUP188 Zornitza Stark Marked gene: NUP188 as ready
Cataract v0.8 NUP188 Zornitza Stark Gene: nup188 has been classified as Amber List (Moderate Evidence).
Cataract v0.8 NUP188 Zornitza Stark Phenotypes for gene: NUP188 were changed from to microcephaly; ID; cataract
Cataract v0.7 NUP188 Zornitza Stark Publications for gene: NUP188 were set to
Cataract v0.6 NUP188 Zornitza Stark Mode of inheritance for gene: NUP188 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.5 NUP188 Zornitza Stark Classified gene: NUP188 as Amber List (moderate evidence)
Cataract v0.5 NUP188 Zornitza Stark Gene: nup188 has been classified as Amber List (Moderate Evidence).
Cataract v0.4 NUP188 Zornitza Stark reviewed gene: NUP188: Rating: AMBER; Mode of pathogenicity: None; Publications: https://doi.org/10.1159/000504818, 28726809; Phenotypes: microcephaly, ID, cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.51 NUP188 Zornitza Stark Marked gene: NUP188 as ready
Microcephaly v0.51 NUP188 Zornitza Stark Gene: nup188 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.51 NUP188 Zornitza Stark Phenotypes for gene: NUP188 were changed from to microcephaly; ID; cataract
Microcephaly v0.50 NUP188 Zornitza Stark Publications for gene: NUP188 were set to
Microcephaly v0.49 NUP188 Zornitza Stark Mode of inheritance for gene: NUP188 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.48 NUP188 Zornitza Stark Classified gene: NUP188 as Amber List (moderate evidence)
Microcephaly v0.48 NUP188 Zornitza Stark Gene: nup188 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.47 NUP188 Zornitza Stark reviewed gene: NUP188: Rating: AMBER; Mode of pathogenicity: None; Publications: https://doi.org/10.1159/000504818, 28726809; Phenotypes: microcephaly, ID, cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1450 NUP188 Zornitza Stark Marked gene: NUP188 as ready
Intellectual disability syndromic and non-syndromic v0.1450 NUP188 Zornitza Stark Gene: nup188 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1450 NUP188 Zornitza Stark Classified gene: NUP188 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1450 NUP188 Zornitza Stark Gene: nup188 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.461 SLC5A6 Zornitza Stark Marked gene: SLC5A6 as ready
Mendeliome v0.461 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Mendeliome v0.461 SLC5A6 Zornitza Stark Classified gene: SLC5A6 as Green List (high evidence)
Mendeliome v0.461 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Mendeliome v0.460 SLC5A6 Zornitza Stark gene: SLC5A6 was added
gene: SLC5A6 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A6 were set to 31754459; 27904971
Phenotypes for gene: SLC5A6 were set to Developmental delay; epilepsy; neurodegeneration
Review for gene: SLC5A6 was set to GREEN
Added comment: Two unrelated families reported, functional data and some evidence of response to treatment.
Sources: Literature
Genetic Epilepsy v0.57 SLC5A6 Zornitza Stark Marked gene: SLC5A6 as ready
Genetic Epilepsy v0.57 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.57 SLC5A6 Zornitza Stark Classified gene: SLC5A6 as Green List (high evidence)
Genetic Epilepsy v0.57 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.56 SLC5A6 Zornitza Stark gene: SLC5A6 was added
gene: SLC5A6 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A6 were set to 31754459; 27904971
Phenotypes for gene: SLC5A6 were set to Developmental delay; epilepsy; neurodegeneration
Review for gene: SLC5A6 was set to GREEN
Added comment: Two unrelated families reported, functional data and some evidence of response to treatment.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1449 SLC5A6 Zornitza Stark Marked gene: SLC5A6 as ready
Intellectual disability syndromic and non-syndromic v0.1449 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1449 SLC5A6 Zornitza Stark Classified gene: SLC5A6 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1449 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1448 SLC5A6 Zornitza Stark gene: SLC5A6 was added
gene: SLC5A6 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A6 were set to 31754459; 27904971
Phenotypes for gene: SLC5A6 were set to Developmental delay; epilepsy; neurodegeneration
Review for gene: SLC5A6 was set to GREEN
Added comment: Two unrelated families reported, functional data and some evidence of response to treatment.
Sources: Literature
Regression v0.37 SLC5A6 Zornitza Stark Marked gene: SLC5A6 as ready
Regression v0.37 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Regression v0.37 SLC5A6 Zornitza Stark Classified gene: SLC5A6 as Green List (high evidence)
Regression v0.37 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Regression v0.36 SLC5A6 Zornitza Stark gene: SLC5A6 was added
gene: SLC5A6 was added to Regression_VCGS. Sources: Literature
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A6 were set to 31754459; 27904971
Phenotypes for gene: SLC5A6 were set to Developmental delay; epilepsy; neurodegeneration
Review for gene: SLC5A6 was set to GREEN
Added comment: Two unrelated families reported, functional data and some evidence of response to treatment.
Sources: Literature
Hydrops fetalis v0.104 PTH1R Zornitza Stark Marked gene: PTH1R as ready
Hydrops fetalis v0.104 PTH1R Zornitza Stark Gene: pth1r has been classified as Green List (High Evidence).
Hydrops fetalis v0.104 PTH1R Zornitza Stark Classified gene: PTH1R as Green List (high evidence)
Hydrops fetalis v0.104 PTH1R Zornitza Stark Gene: pth1r has been classified as Green List (High Evidence).
Hydrops fetalis v0.103 PKLR Zornitza Stark Marked gene: PKLR as ready
Hydrops fetalis v0.103 PKLR Zornitza Stark Gene: pklr has been classified as Green List (High Evidence).
Hydrops fetalis v0.103 PKLR Zornitza Stark Phenotypes for gene: PKLR were changed from to Pyruvate Kinase deficiency, MIM# 266200
Hydrops fetalis v0.102 PKLR Zornitza Stark Classified gene: PKLR as Green List (high evidence)
Hydrops fetalis v0.102 PKLR Zornitza Stark Gene: pklr has been classified as Green List (High Evidence).
Hydrops fetalis v0.101 RPL11 Zornitza Stark Marked gene: RPL11 as ready
Hydrops fetalis v0.101 RPL11 Zornitza Stark Gene: rpl11 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.101 RPL11 Zornitza Stark Classified gene: RPL11 as Red List (low evidence)
Hydrops fetalis v0.101 RPL11 Zornitza Stark Gene: rpl11 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1447 NUP188 Zornitza Stark Phenotypes for gene: NUP188 were changed from to microcephaly; ID; cataract
Intellectual disability syndromic and non-syndromic v0.1446 NUP188 Zornitza Stark Publications for gene: NUP188 were set to
Intellectual disability syndromic and non-syndromic v0.1445 NUP188 Zornitza Stark Mode of inheritance for gene: NUP188 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1444 NUP188 Zornitza Stark reviewed gene: NUP188: Rating: GREEN; Mode of pathogenicity: None; Publications: https://doi.org/10.1159/000504818, 28726809; Phenotypes: microcephaly, ID, cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.100 RPL11 George McGillivray gene: RPL11 was added
gene: RPL11 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPL11 were set to Diamond-Blackfan anemia 7
Review for gene: RPL11 was set to RED
Added comment: I can't find a published link between RPL11 and hydrops fetalis.
However, there are 8 Case reports of DBA (molecular type not specified) with hydrops fetalis so this gene/ DBA phenotype should be revisited in future
PMIDs 8926615;8734811;8734811;9166327;3140685;14655096;3222219;15004307;17828794
Sources: Expert list
Hydrops fetalis v0.100 PKLR George McGillivray edited their review of gene: PKLR: Changed phenotypes: Pyruvate Kinase deficiency
Hydrops fetalis v0.100 PTH1R George McGillivray gene: PTH1R was added
gene: PTH1R was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: PTH1R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTH1R were set to 3975110; 9268097; 8723092
Phenotypes for gene: PTH1R were set to CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD
Review for gene: PTH1R was set to GREEN
Added comment: PMID 3975110
Original case report "The infant was hydropic, showed macroglossia and had very short limbs with normal sized hands and feet"
PMID 9268097
Sibling fetuses were both hydropic at 26 and 33 weeks' gestation.
PMID 8723092:
Both fetuses hydropic, one grossly so.
Sources: Expert list
Hydrops fetalis v0.100 PKLR George McGillivray gene: PKLR was added
gene: PKLR was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKLR were set to 29549173; 8285758; 10923218
Review for gene: PKLR was set to GREEN
Added comment: PMID 29549173:
A large cohort study (n=233) documented fetal anaemia requiring transfusion in 13% of affected fetuses and hydrops fetalis in 4%.
Sources: Expert list
Dystonia - complex v0.10 GRN Bryony Thompson Marked gene: GRN as ready
Dystonia - complex v0.10 GRN Bryony Thompson Gene: grn has been classified as Green List (High Evidence).
Dystonia - complex v0.10 GRN Bryony Thompson Classified gene: GRN as Green List (high evidence)
Dystonia - complex v0.10 GRN Bryony Thompson Gene: grn has been classified as Green List (High Evidence).
Dystonia - complex v0.9 GRN Bryony Thompson gene: GRN was added
gene: GRN was added to Dystonia - complex_RMH. Sources: Expert list
Mode of inheritance for gene: GRN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GRN were set to Frontotemporal lobar degeneration with ubiquitin-positive inclusions, MIM#607485
Review for gene: GRN was set to GREEN
Added comment: Dystonia is a reported feature of the phenotype
Sources: Expert list
Dystonia - complex v0.8 GM2A Bryony Thompson Marked gene: GM2A as ready
Dystonia - complex v0.8 GM2A Bryony Thompson Gene: gm2a has been classified as Green List (High Evidence).
Dystonia - complex v0.8 GM2A Bryony Thompson Classified gene: GM2A as Green List (high evidence)
Dystonia - complex v0.8 GM2A Bryony Thompson Gene: gm2a has been classified as Green List (High Evidence).
Dystonia - complex v0.7 GM2A Bryony Thompson gene: GM2A was added
gene: GM2A was added to Dystonia - complex_RMH. Sources: Expert list
Mode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GM2A were set to GM2-gangliosidosis, AB variant, MIM#272750
Review for gene: GM2A was set to GREEN
Added comment: Dystonia is a feature of the phenotype
Sources: Expert list
Deafness_IsolatedAndComplex v0.11 ACTB Lilian Downie reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25052316, PMID: 29788902; Phenotypes: Baraitser-Winter syndrome, Deafness-dystonia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia - complex v0.6 GALT Bryony Thompson Marked gene: GALT as ready
Dystonia - complex v0.6 GALT Bryony Thompson Gene: galt has been classified as Green List (High Evidence).
Dystonia - complex v0.6 GALT Bryony Thompson Classified gene: GALT as Green List (high evidence)
Dystonia - complex v0.6 GALT Bryony Thompson Gene: galt has been classified as Green List (High Evidence).
Dystonia - complex v0.5 GALT Bryony Thompson gene: GALT was added
gene: GALT was added to Dystonia - complex_RMH. Sources: Expert list
Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALT were set to 30718057
Phenotypes for gene: GALT were set to Galactosemia, MIM#230400
Review for gene: GALT was set to GREEN
Added comment: Dystonia can be a feature of the phenotype (PMID: 30718057).
Sources: Expert list
Dystonia - complex v0.4 FUCA1 Bryony Thompson Marked gene: FUCA1 as ready
Dystonia - complex v0.4 FUCA1 Bryony Thompson Gene: fuca1 has been classified as Green List (High Evidence).
Dystonia - complex v0.4 FUCA1 Bryony Thompson Classified gene: FUCA1 as Green List (high evidence)
Dystonia - complex v0.4 FUCA1 Bryony Thompson Gene: fuca1 has been classified as Green List (High Evidence).
Dystonia - complex v0.3 FUCA1 Bryony Thompson gene: FUCA1 was added
gene: FUCA1 was added to Dystonia - complex_RMH. Sources: Expert list
Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUCA1 were set to 31064022
Phenotypes for gene: FUCA1 were set to Fucosidosis, MIM#230000
Review for gene: FUCA1 was set to GREEN
Added comment: Dystonia can be a feature of the phenotype. Dystonia was present in 9/75 Fucosidosis cases in a literature review (PMID: 31064022).
Sources: Expert list
Dystonia - complex v0.2 ARSA Bryony Thompson Marked gene: ARSA as ready
Dystonia - complex v0.2 ARSA Bryony Thompson Gene: arsa has been classified as Green List (High Evidence).
Dystonia - complex v0.2 ARSA Bryony Thompson Classified gene: ARSA as Green List (high evidence)
Dystonia - complex v0.2 ARSA Bryony Thompson Gene: arsa has been classified as Green List (High Evidence).
Dystonia - complex v0.1 ARSA Bryony Thompson gene: ARSA was added
gene: ARSA was added to Dystonia - complex_RMH. Sources: Expert list
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy, MIM#250100
Review for gene: ARSA was set to GREEN
Added comment: Dystonia is a feature of the phenotype
Sources: Expert list
Hydrops fetalis v0.100 KLF1 Zornitza Stark Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.99 KLF1 Zornitza Stark Marked gene: KLF1 as ready
Hydrops fetalis v0.99 KLF1 Zornitza Stark Gene: klf1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.99 KLF1 Zornitza Stark Publications for gene: KLF1 were set to 29300242; 25724378; 28265383
Hydrops fetalis v0.98 KLF1 Zornitza Stark Phenotypes for gene: KLF1 were changed from to Congenital Dyserythropoietic Anemia Type IV, MIM#613673; severe nonspherocytic hemolytic anemia
Hydrops fetalis v0.97 KLF1 Zornitza Stark Publications for gene: KLF1 were set to
Hydrops fetalis v0.97 KLF1 Zornitza Stark Mode of inheritance for gene: KLF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.96 TRIP11 Zornitza Stark Marked gene: TRIP11 as ready
Hydrops fetalis v0.96 TRIP11 Zornitza Stark Gene: trip11 has been classified as Amber List (Moderate Evidence).
Skeletal Muscle Channelopathies v0.0 SCN4A Bryony Thompson gene: SCN4A was added
gene: SCN4A was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN4A were set to Hyperkalemic Periodic Paralysis; Hypokalemic periodic paralysis, type 2, 613; Thyrotoxic Periodic Paralysis, Susceptibility To, 2; Hypokalemic Periodic Paralysis; Episodic weakness; Myotonia; Potassium-Aggravated Myotonia; Hyperkalemic periodic paralysis, type 2, 170500; Myasthenic syndrome, acetazolamide-responsive, 614198
Skeletal Muscle Channelopathies v0.0 RYR1 Bryony Thompson gene: RYR1 was added
gene: RYR1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RYR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RYR1 were set to Malignant hyperthermia
Skeletal Muscle Channelopathies v0.0 KCNJ2 Bryony Thompson gene: KCNJ2 was added
gene: KCNJ2 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNJ2 were set to Hypokalemic Periodic Paralysis, Type 2; Periodic paralysis; ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Andersen syndrome
Skeletal Muscle Channelopathies v0.0 KCNA1 Bryony Thompson gene: KCNA1 was added
gene: KCNA1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNA1 were set to EA1; Episodic ataxia/myokymia syndrome, 160120; Myokymia; Episodic Ataxia; Episodic Ataxia, Type 1
Skeletal Muscle Channelopathies v0.0 CLCN1 Bryony Thompson gene: CLCN1 was added
gene: CLCN1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CLCN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CLCN1 were set to Myotonia congenita, dominant, 160800; Hyperkalemic Periodic Paralysis; Myotonia Congenita; Myotonia; Myotonia congenita, recessive, 255700; Myotonia levior, recessive
Skeletal Muscle Channelopathies v0.0 CASQ1 Bryony Thompson gene: CASQ1 was added
gene: CASQ1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CASQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CASQ1 were set to Myopathy, vacuolar, with casq1 aggregates
Skeletal Muscle Channelopathies v0.0 CACNB1 Bryony Thompson gene: CACNB1 was added
gene: CACNB1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: CACNB1 was set to
Publications for gene: CACNB1 were set to 27832566; 8943043; 29212769
Phenotypes for gene: CACNB1 were set to ?Malignant hyperthermia susceptibility
Skeletal Muscle Channelopathies v0.0 CACNA1S Bryony Thompson gene: CACNA1S was added
gene: CACNA1S was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CACNA1S were set to Malignant hyperthermia susceptibility type 5; Hypokalemic periodic paralysis, type 1, 170400
Skeletal Muscle Channelopathies v0.0 ATP2A1 Bryony Thompson gene: ATP2A1 was added
gene: ATP2A1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP2A1 were set to Brody myopathy 601003
Skeletal Muscle Channelopathies v0.0 Bryony Thompson Added panel Skeletal Muscle Channelopathies_RMH
Maturity-onset Diabetes of the Young v0.0 PDX1 Bryony Thompson gene: PDX1 was added
gene: PDX1 was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDX1 were set to Pancreatic agenesis 1
Maturity-onset Diabetes of the Young v0.0 PAX4 Bryony Thompson gene: PAX4 was added
gene: PAX4 was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PAX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX4 were set to Maturity Onset Diabetes of the Young; Maturity-onset diabetes of the young, type IX, 612225
Maturity-onset Diabetes of the Young v0.0 NEUROD1 Bryony Thompson gene: NEUROD1 was added
gene: NEUROD1 was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NEUROD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: NEUROD1 were set to Maturity Onset Diabetes of the Young; {Diabetes mellitus, noninsulin-dependent}, 125853
Maturity-onset Diabetes of the Young v0.0 KLF11 Bryony Thompson gene: KLF11 was added
gene: KLF11 was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KLF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KLF11 were set to Maturity Onset Diabetes of the Young; Maturity-onset diabetes of the young, type VII, 610508
Maturity-onset Diabetes of the Young v0.0 KCNJ11 Bryony Thompson gene: KCNJ11 was added
gene: KCNJ11 was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCNJ11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNJ11 were set to Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582; Maturity Onset Diabetes of the Young
Maturity-onset Diabetes of the Young v0.0 INS Bryony Thompson gene: INS was added
gene: INS was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: INS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: INS were set to Maturity Onset Diabetes of the Young (Dominant); Maturity Onset Diabetes of the Young; Transient Neonatal Diabetes, Dominant/Recessive; Hyperproinsulinemia, familial, with or without diabetes
Maturity-onset Diabetes of the Young v0.0 HNF4A Bryony Thompson gene: HNF4A was added
gene: HNF4A was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF4A were set to Maturity Onset Diabetes of the Young; MODY, type I, 125850; OMIM 616026
Maturity-onset Diabetes of the Young v0.0 HNF1B Bryony Thompson gene: HNF1B was added
gene: HNF1B was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome, 137920
Maturity-onset Diabetes of the Young v0.0 HNF1A Bryony Thompson gene: HNF1A was added
gene: HNF1A was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF1A were set to Maturity Onset Diabetes of the Young; MODY, type III, 600496{Diabetes mellitus, noninsulin-dependent, 2}, 125853{Diabetes mellitus, insulin-dependent}, 222100Hepatic adenoma, somatic, 142330Renal cell carcinoma, 144700Diabetes mellitus, insulin-dependent, 20, 612520
Maturity-onset Diabetes of the Young v0.0 GCK Bryony Thompson gene: GCK was added
gene: GCK was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GCK was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: GCK were set to MODY, type II, 125851; Maturity-onset diabetes of the young (MODY); Transient Neonatal Diabetes, Recessive; Maturity Onset Diabetes of the Young; Maturity Onset Diabetes of the Young (Dominant); Permanent Neonatal Diabetes Mellitus (recessive)
Maturity-onset Diabetes of the Young v0.0 CEL Bryony Thompson gene: CEL was added
gene: CEL was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CEL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CEL were set to Maturity-onset diabetes of the young, type VIII, 609812
Maturity-onset Diabetes of the Young v0.0 BLK Bryony Thompson gene: BLK was added
gene: BLK was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: BLK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BLK were set to Maturity Onset Diabetes of the Young; Maturity-onset diabetes of the young, type 11, 613375
Maturity-onset Diabetes of the Young v0.0 APPL1 Bryony Thompson gene: APPL1 was added
gene: APPL1 was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: APPL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: APPL1 were set to 26073777
Phenotypes for gene: APPL1 were set to {Maturity-onset diabetes of the young, type 14}, 616511
Maturity-onset Diabetes of the Young v0.0 ABCC8 Bryony Thompson gene: ABCC8 was added
gene: ABCC8 was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ABCC8 were set to Diabetes mellitus, permanent neonatal, 6; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Transient Neonatal Diabetes, Dominant; Hypoglycemia of infancy, leucine-sensitive, 240800; Permanent Neonatal Diabetes Mellitus (recessive); Diabetes mellitus, transient neonatal 2, 610374; Diabetes mellitus, noninsulin-dependent, 125853; Permanent Neonatal Diabetes Mellitus
Maturity-onset Diabetes of the Young v0.0 Bryony Thompson Added panel Maturity-onset Diabetes of the Young_RMH
Hydrops fetalis v0.95 SGPL1 Zornitza Stark Marked gene: SGPL1 as ready
Hydrops fetalis v0.95 SGPL1 Zornitza Stark Gene: sgpl1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.95 SGPL1 Zornitza Stark Classified gene: SGPL1 as Green List (high evidence)
Hydrops fetalis v0.95 SGPL1 Zornitza Stark Gene: sgpl1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.94 SGPL1 Zornitza Stark gene: SGPL1 was added
gene: SGPL1 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGPL1 were set to 28165343
Phenotypes for gene: SGPL1 were set to Nephrotic syndrome, type 14, MIM# 617575
Review for gene: SGPL1 was set to GREEN
Added comment: Can present with hydrops antenatally.
Sources: Expert list
Hydrops fetalis v0.94 SGPL1 Zornitza Stark gene: SGPL1 was added
gene: SGPL1 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGPL1 were set to 28165343
Phenotypes for gene: SGPL1 were set to Nephrotic syndrome, type 14, MIM# 617575
Review for gene: SGPL1 was set to GREEN
Added comment: Can present with hydrops antenatally.
Sources: Expert list
Hydrops fetalis v0.93 RYR1 Zornitza Stark Marked gene: RYR1 as ready
Hydrops fetalis v0.93 RYR1 Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.93 RYR1 Zornitza Stark Phenotypes for gene: RYR1 were changed from to Central core disease, MIM# 117000; Multiple pterygium syndrome
Hydrops fetalis v0.92 RYR1 Zornitza Stark Publications for gene: RYR1 were set to
Hydrops fetalis v0.91 RYR1 Zornitza Stark Mode of inheritance for gene: RYR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hydrops fetalis v0.90 RYR1 Zornitza Stark reviewed gene: RYR1: Rating: ; Mode of pathogenicity: None; Publications: 28543167, 26932181; Phenotypes: Central core disease, MIM# 117000, Multiple pterygium syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hydrops fetalis v0.90 RAPSN Zornitza Stark Marked gene: RAPSN as ready
Hydrops fetalis v0.90 RAPSN Zornitza Stark Gene: rapsn has been classified as Red List (Low Evidence).
Hydrops fetalis v0.90 RAPSN Zornitza Stark Phenotypes for gene: RAPSN were changed from Fetal akinesia deformation sequence 2, MIM# 618388 to Fetal akinesia deformation sequence 2, MIM# 618388
Hydrops fetalis v0.89 RAPSN Zornitza Stark Phenotypes for gene: RAPSN were changed from to Fetal akinesia deformation sequence 2, MIM# 618388
Hydrops fetalis v0.89 RAPSN Zornitza Stark Publications for gene: RAPSN were set to
Hydrops fetalis v0.88 RAPSN Zornitza Stark Classified gene: RAPSN as Red List (low evidence)
Hydrops fetalis v0.88 RAPSN Zornitza Stark Gene: rapsn has been classified as Red List (Low Evidence).
Hydrops fetalis v0.88 RAPSN Zornitza Stark Mode of inheritance for gene: RAPSN was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.87 RAPSN Zornitza Stark Mode of inheritance for gene: RAPSN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.87 RAPSN Zornitza Stark Classified gene: RAPSN as Red List (low evidence)
Hydrops fetalis v0.87 RAPSN Zornitza Stark Gene: rapsn has been classified as Red List (Low Evidence).
Hydrops fetalis v0.86 RAPSN Zornitza Stark reviewed gene: RAPSN: Rating: RED; Mode of pathogenicity: None; Publications: 18252226; Phenotypes: Fetal akinesia deformation sequence 2, MIM# 618388; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vascular Malformations_Germline v0.0 TEK Bryony Thompson gene: TEK was added
gene: TEK was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TEK were set to Venous malformations, multiple cutaneous and mucosal 600195
Vascular Malformations_Germline v0.0 TBX4 Bryony Thompson gene: TBX4 was added
gene: TBX4 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TBX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX4 were set to SPS; Heritable pulmonary arterial hypertension; Small patella syndrome; Ischiocoxopodopatellar syndrome, 147891; IPAH; Pulmonary arterial hypertension; Idiopathic pulmonary arterial hypertension; HPAH
Vascular Malformations_Germline v0.0 STAMBP Bryony Thompson gene: STAMBP was added
gene: STAMBP was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAMBP were set to Microcephaly-capillary malformation syndrome
Vascular Malformations_Germline v0.0 SOX18 Bryony Thompson gene: SOX18 was added
gene: SOX18 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome, 607823; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 137940
Vascular Malformations_Germline v0.0 SOX17 Bryony Thompson gene: SOX17 was added
gene: SOX17 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SOX17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX17 were set to Heritable pulmonary arterial hypertension; HPAH
Vascular Malformations_Germline v0.0 SMAD9 Bryony Thompson gene: SMAD9 was added
gene: SMAD9 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SMAD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMAD9 were set to Pulmonary hypertension, primary, 2, 615342; Heritable pulmonary arterial hypertension; IPAH; Pulmonary arterial hypertension; Idiopathic pulmonary arterial hypertension; HPAH
Vascular Malformations_Germline v0.0 SMAD4 Bryony Thompson gene: SMAD4 was added
gene: SMAD4 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
Vascular Malformations_Germline v0.0 RASA1 Bryony Thompson gene: RASA1 was added
gene: RASA1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation 608354
Vascular Malformations_Germline v0.0 PTEN Bryony Thompson gene: PTEN was added
gene: PTEN was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTEN were set to Cowden syndrome; Bannayan-Riley-Ruvalcaba syndrome; Lhermitte-Duclos syndrome
Vascular Malformations_Germline v0.0 PIK3CA Bryony Thompson gene: PIK3CA was added
gene: PIK3CA was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PIK3CA was set to
Phenotypes for gene: PIK3CA were set to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Vascular Malformations_Germline v0.0 PIEZO1 Bryony Thompson gene: PIEZO1 was added
gene: PIEZO1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PIEZO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIEZO1 were set to Lymphedema, hereditary, III
Vascular Malformations_Germline v0.0 PDCD10 Bryony Thompson gene: PDCD10 was added
gene: PDCD10 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PDCD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PDCD10 were set to Cerebral cavernous malformations 3
Vascular Malformations_Germline v0.0 KRIT1 Bryony Thompson gene: KRIT1 was added
gene: KRIT1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRIT1 were set to Cerebral cavernous malformations-1 116860; Cavernous malformations of CNS and retina 116860; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860
Vascular Malformations_Germline v0.0 KIF11 Bryony Thompson gene: KIF11 was added
gene: KIF11 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KIF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIF11 were set to Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Vascular Malformations_Germline v0.0 KCNK3 Bryony Thompson gene: KCNK3 was added
gene: KCNK3 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNK3 were set to Heritable pulmonary arterial hypertension; IPAH; Pulmonary arterial hypertension; Pulmonary hypertension, primary, 4, 615344; Idiopathic pulmonary arterial hypertension; HPAH
Vascular Malformations_Germline v0.0 GNA11 Bryony Thompson gene: GNA11 was added
gene: GNA11 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GNA11 was set to
Publications for gene: GNA11 were set to 30677207
Phenotypes for gene: GNA11 were set to Somatic hemangioma
Vascular Malformations_Germline v0.0 GLMN Bryony Thompson gene: GLMN was added
gene: GLMN was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GLMN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLMN were set to Glomuvenous malformations
Vascular Malformations_Germline v0.0 GJC2 Bryony Thompson gene: GJC2 was added
gene: GJC2 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GJC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GJC2 were set to Lymphatic malformation 3
Vascular Malformations_Germline v0.0 GDF2 Bryony Thompson gene: GDF2 was added
gene: GDF2 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GDF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GDF2 were set to Telangiectasia, hereditary hemorrhagic, type 5 615506
Vascular Malformations_Germline v0.0 GATA2 Bryony Thompson gene: GATA2 was added
gene: GATA2 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GATA2 were set to Lymphedema, primary, with myelodysplasia
Vascular Malformations_Germline v0.0 FOXC2 Bryony Thompson gene: FOXC2 was added
gene: FOXC2 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXC2 were set to Lymphedema-distichiasis syndrome
Vascular Malformations_Germline v0.0 FLT4 Bryony Thompson gene: FLT4 was added
gene: FLT4 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FLT4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FLT4 were set to Lymphedema, hereditary I (Milory disease)
Vascular Malformations_Germline v0.0 FAT4 Bryony Thompson gene: FAT4 was added
gene: FAT4 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAT4 were set to Hennekam lymphangiectasia-lymphedema syndrome 2
Vascular Malformations_Germline v0.0 EPHB4 Bryony Thompson gene: EPHB4 was added
gene: EPHB4 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation 2, MIM#618196
Vascular Malformations_Germline v0.0 ENG Bryony Thompson gene: ENG was added
gene: ENG was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ENG were set to Epistaxis (HP:0000421); Spinal arteriovenous malformation (HP:0002390); Tongue telangiectasia (HP:0000227); Telangiectasia, hereditary hemorrhagic, type 1, 187300; Cerebral arteriovenous malformation (HP:0002408); Palate telangiectasia (HP:0002707); Hepatic arteriovenous malformation (HP:0006574; Lip telangiectasia (HP:0000214); Arteriovenous malformation (HP:0100026); Nasal mucosa telangiectasia (HP:0000434); Pulmonary arteriovenous malformation (HP:0006548); ); Finger pad telangiectasia (pulp not nail side); Gastrointestinal telangiectasia (HP:0002604)
Vascular Malformations_Germline v0.0 ELMO2 Bryony Thompson gene: ELMO2 was added
gene: ELMO2 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ELMO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELMO2 were set to Vascular malformation, primary intraosseous, MIM#606893
Vascular Malformations_Germline v0.0 EIF2AK4 Bryony Thompson gene: EIF2AK4 was added
gene: EIF2AK4 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EIF2AK4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK4 were set to Pulmonary venoocclusive disease 2, 234810; pulmonary capillary hemangiomatosis; Heritable pulmonary arterial hypertension; PVOD; IPAH; Pulmonary arterial hypertension; Idiopathic pulmonary arterial hypertension; PCH; HPAH
Vascular Malformations_Germline v0.0 CCM2 Bryony Thompson gene: CCM2 was added
gene: CCM2 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CCM2 were set to Cerebral cavernous malformations
Vascular Malformations_Germline v0.0 CCBE1 Bryony Thompson gene: CCBE1 was added
gene: CCBE1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCBE1 were set to Hennekam lymphangiectasia-lymphedema syndrome 1, MIM#235510
Vascular Malformations_Germline v0.0 CAV1 Bryony Thompson gene: CAV1 was added
gene: CAV1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CAV1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CAV1 were set to Pulmonary hypertension, primary, 3, 615343; Heritable pulmonary arterial hypertension; HPAH; Pulmonary arterial hypertension
Vascular Malformations_Germline v0.0 BMPR2 Bryony Thompson gene: BMPR2 was added
gene: BMPR2 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BMPR2 were set to Pulmonary hypertension, familial primary, 1, with or without HHT, 178600
Vascular Malformations_Germline v0.0 BMPR1B Bryony Thompson gene: BMPR1B was added
gene: BMPR1B was added to Vascular Malformations_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: BMPR1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BMPR1B were set to 22374147
Phenotypes for gene: BMPR1B were set to Idiopathic pulmonary arterial hypertension; IPAH
Vascular Malformations_Germline v0.0 ATP13A3 Bryony Thompson gene: ATP13A3 was added
gene: ATP13A3 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATP13A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP13A3 were set to Heritable pulmonary arterial hypertension; HPAH
Vascular Malformations_Germline v0.0 AQP1 Bryony Thompson gene: AQP1 was added
gene: AQP1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AQP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AQP1 were set to Heritable pulmonary arterial hypertension; HPAH
Vascular Malformations_Germline v0.0 ACVRL1 Bryony Thompson gene: ACVRL1 was added
gene: ACVRL1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACVRL1 were set to cerebral pulmonary arteriovenous malformation; pulmonary arteriovenous malformation; hepatic arteriovenous malformation; epistaxis; pulmonary arterial hypertension; Telangiectasia, hereditary hemorrhagic, type 2 600376; telangiectasia
Vascular Malformations_Germline v0.0 Bryony Thompson Added panel Vascular Malformations_RMH
Hydrops fetalis v0.86 MUSK Zornitza Stark Marked gene: MUSK as ready
Hydrops fetalis v0.86 MUSK Zornitza Stark Gene: musk has been classified as Green List (High Evidence).
Hydrops fetalis v0.86 MUSK Zornitza Stark Phenotypes for gene: MUSK were changed from to Fetal akinesia deformation sequence 1, MIM# 208150
Hydrops fetalis v0.85 MUSK Zornitza Stark Mode of inheritance for gene: MUSK was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.84 MUSK Zornitza Stark Publications for gene: MUSK were set to 31750350; 25537362
Hydrops fetalis v0.84 MUSK Zornitza Stark Publications for gene: MUSK were set to 31750350; 25537362
Hydrops fetalis v0.83 MUSK Zornitza Stark Mode of inheritance for gene: MUSK was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.83 MUSK Zornitza Stark Publications for gene: MUSK were set to
Hydrops fetalis v0.83 MUSK Zornitza Stark Mode of inheritance for gene: MUSK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.82 MUSK Zornitza Stark reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: 31750350, 25537362; Phenotypes: Fetal akinesia deformation sequence 1, MIM# 208150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.82 KMT2D Zornitza Stark Marked gene: KMT2D as ready
Hydrops fetalis v0.82 KMT2D Zornitza Stark Gene: kmt2d has been classified as Green List (High Evidence).
Hydrops fetalis v0.82 KMT2D Zornitza Stark Classified gene: KMT2D as Green List (high evidence)
Hydrops fetalis v0.82 KMT2D Zornitza Stark Gene: kmt2d has been classified as Green List (High Evidence).
Hydrops fetalis v0.81 KLHL40 Zornitza Stark Marked gene: KLHL40 as ready
Hydrops fetalis v0.81 KLHL40 Zornitza Stark Gene: klhl40 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.81 KLHL40 Zornitza Stark Mode of inheritance for gene: KLHL40 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.80 KLHL40 Zornitza Stark Phenotypes for gene: KLHL40 were changed from to Nemaline myopathy 8, autosomal recessive, MIM# 615348
Hydrops fetalis v0.79 KLHL40 Zornitza Stark Publications for gene: KLHL40 were set to
Hydrops fetalis v0.78 KLHL40 Zornitza Stark Classified gene: KLHL40 as Amber List (moderate evidence)
Hydrops fetalis v0.78 KLHL40 Zornitza Stark Gene: klhl40 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.77 KLHL40 Zornitza Stark reviewed gene: KLHL40: Rating: AMBER; Mode of pathogenicity: None; Publications: 25721947; Phenotypes: Nemaline myopathy 8, autosomal recessive, MIM# 615348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.77 KIAA0586 Zornitza Stark Marked gene: KIAA0586 as ready
Hydrops fetalis v0.77 KIAA0586 Zornitza Stark Gene: kiaa0586 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.77 KIAA0586 Zornitza Stark Phenotypes for gene: KIAA0586 were changed from Hydrolethalus; short rib polydactyly to Hydrolethalus; short rib polydactyly
Hydrops fetalis v0.76 KIAA0586 Zornitza Stark Publications for gene: KIAA0586 were set to 26166481
Hydrops fetalis v0.75 KIAA0586 Zornitza Stark Phenotypes for gene: KIAA0586 were changed from Hydrolethalus to Hydrolethalus; short rib polydactyly
Hydrops fetalis v0.75 KIAA0586 Zornitza Stark Publications for gene: KIAA0586 were set to KIAA0586
Hydrops fetalis v0.74 KIAA0586 Zornitza Stark Classified gene: KIAA0586 as Red List (low evidence)
Hydrops fetalis v0.74 KIAA0586 Zornitza Stark Added comment: Comment on list classification: Only one individual with hydrops from a series of 8; emerging gene, phenotype yet to be delineated.
Hydrops fetalis v0.74 KIAA0586 Zornitza Stark Gene: kiaa0586 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.73 KMT2D George McGillivray gene: KMT2D was added
gene: KMT2D was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2D were set to 30293990; 27568880; 15690368
Phenotypes for gene: KMT2D were set to Kabuki syndrome
Review for gene: KMT2D was set to GREEN
Added comment: In the first two publications there are two patients, one in each, with truncating mutations in KTM2D and hydrops fetalis. In the third paper, the prevalence of hydrops fetalis was 3/20 in patients with a clinical diagnosis pre-KTM2D.
Sources: Expert list
Leukodystrophy - adult onset v0.0 AUH Bryony Thompson gene: AUH was added
gene: AUH was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I, MIM#250950
Leukodystrophy - adult onset v0.0 MAN2B1 Bryony Thompson gene: MAN2B1 was added
gene: MAN2B1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, MIM#248500
Leukodystrophy - paediatric v0.0 WARS2 Bryony Thompson gene: WARS2 was added
gene: WARS2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WARS2 were set to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710
Leukodystrophy - paediatric v0.0 VPS11 Bryony Thompson gene: VPS11 was added
gene: VPS11 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12, MIM#616683
Leukodystrophy - paediatric v0.0 TYMP Bryony Thompson gene: TYMP was added
gene: TYMP was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type); Mitochondrial Leukoencephalopathy
Leukodystrophy - paediatric v0.0 TUFM Bryony Thompson gene: TUFM was added
gene: TUFM was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUFM were set to Mitochondrial Leukoencephalopathy
Leukodystrophy - paediatric v0.0 TACO1 Bryony Thompson gene: TACO1 was added
gene: TACO1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TACO1 were set to Mitochondrial Leukoencephalopathy
Leukodystrophy - paediatric v0.0 SURF1 Bryony Thompson gene: SURF1 was added
gene: SURF1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SURF1 were set to Leigh syndrome, due to COX IV deficiency; Mitochondrial Leukoencephalopathy; Mitochondrial complex IV disorder
Leukodystrophy - paediatric v0.0 SUMF1 Bryony Thompson gene: SUMF1 was added
gene: SUMF1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUMF1 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Multiple sulfatase deficiency
Leukodystrophy - paediatric v0.0 SUCLA2 Bryony Thompson gene: SUCLA2 was added
gene: SUCLA2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5; Mitochondrial Leukoencephalopathy; Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
Leukodystrophy - paediatric v0.0 SOX10 Bryony Thompson gene: SOX10 was added
gene: SOX10 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX10 were set to peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy; PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; General Leukodystrophy & Mitochondrial Leukoencephalopathy
Leukodystrophy - paediatric v0.0 SLC25A4 Bryony Thompson gene: SLC25A4 was added
gene: SLC25A4 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC25A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A4 were set to Mitochondrial Leukoencephalopathy
Leukodystrophy - paediatric v0.0 SLC25A12 Bryony Thompson gene: SLC25A12 was added
gene: SLC25A12 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC25A12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A12 were set to Hypomyelination, global cerebral 612949
Leukodystrophy - adult onset v0.0 SLC17A5 Bryony Thompson gene: SLC17A5 was added
gene: SLC17A5 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC17A5 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy
Leukodystrophy - paediatric v0.0 SLC16A2 Bryony Thompson gene: SLC16A2 was added
gene: SLC16A2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC16A2 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: SLC16A2 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Allan-Herndon-Dudley syndrome; Monocarboxylate transporter 8 deficiency (MCT8); Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease
Leukodystrophy - paediatric v0.0 SDHB Bryony Thompson gene: SDHB was added
gene: SDHB was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHB were set to Succinate dehydrogenase-deficient leukoencephalopathy; Mitochondrial Leukoencephalopathy; complex II deficiency
Leukodystrophy - paediatric v0.0 SDHAF1 Bryony Thompson gene: SDHAF1 was added
gene: SDHAF1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHAF1 were set to Mitochondrial complex II deficiency 252011
Leukodystrophy - paediatric v0.0 SDHA Bryony Thompson gene: SDHA was added
gene: SDHA was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHA were set to Mitochondrial respiratory chain complex II deficiency, MIM#252011
Leukodystrophy - paediatric v0.0 SCP2 Bryony Thompson gene: SCP2 was added
gene: SCP2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCP2 were set to Leukoencephalopathy with dystonia and motor neuropathy 613724
Leukodystrophy - paediatric v0.0 SCO2 Bryony Thompson gene: SCO2 was added
gene: SCO2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 604377
Leukodystrophy - paediatric v0.0 SCO1 Bryony Thompson gene: SCO1 was added
gene: SCO1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO1 were set to Mitochondrial complex IV deficiency 220110
Leukodystrophy - paediatric v0.0 RRM2B Bryony Thompson gene: RRM2B was added
gene: RRM2B was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075
Leukodystrophy - paediatric v0.0 RARS Bryony Thompson gene: RARS was added
gene: RARS was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARS were set to Leukodystrophy, hypomyelinating, 9 616140
Leukodystrophy - paediatric v0.0 PYCR2 Bryony Thompson gene: PYCR2 was added
gene: PYCR2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYCR2 were set to Leukodystrophy, hypomyelinating, 10 616420
Leukodystrophy - adult onset v0.0 POLG2 Bryony Thompson gene: POLG2 was added
gene: POLG2 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: POLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLG2 were set to 25655951
Phenotypes for gene: POLG2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131
Leukodystrophy - adult onset v0.0 POLG Bryony Thompson gene: POLG was added
gene: POLG was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459
Leukodystrophy - paediatric v0.0 PC Bryony Thompson gene: PC was added
gene: PC was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency, MIM#266150
Leukodystrophy - paediatric v0.0 NUBPL Bryony Thompson gene: NUBPL was added
gene: NUBPL was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency; Mitochondrial Leukoencephalopathy
Leukodystrophy - paediatric v0.0 NKX6-2 Bryony Thompson gene: NKX6-2 was added
gene: NKX6-2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
Leukodystrophy - paediatric v0.0 NFU1 Bryony Thompson gene: NFU1 was added
gene: NFU1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFU1 were set to 29441221
Phenotypes for gene: NFU1 were set to Multiple mitochondrial dysfunctions syndrome 1, MIM#605711
Leukodystrophy - paediatric v0.0 NDUFV1 Bryony Thompson gene: NDUFV1 was added
gene: NDUFV1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV1 were set to Mitochondrial Leukoencephalopathy
Leukodystrophy - paediatric v0.0 NDUFS8 Bryony Thompson gene: NDUFS8 was added
gene: NDUFS8 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS8 were set to Mitochondrial complex I disorders; Leigh syndrome due to mitochondrial complex I deficiency; Mitochondrial Leukoencephalopathy
Leukodystrophy - paediatric v0.0 NDUFS7 Bryony Thompson gene: NDUFS7 was added
gene: NDUFS7 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS7 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial respiratory chain complex I deficiency; Leigh syndrome; Genetic leukoencephalopathies: mitochondrial disorders; Mitochondrial Leukoencephalopathy
Leukodystrophy - paediatric v0.0 NDUFS4 Bryony Thompson gene: NDUFS4 was added
gene: NDUFS4 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS4 were set to Mitochondrial complex I deficiency; Mitochondrial complex I disorders; MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY; Mitochondrial Leukoencephalopathy
Leukodystrophy - paediatric v0.0 NDUFS2 Bryony Thompson gene: NDUFS2 was added
gene: NDUFS2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS2 were set to Mitochondrial complex I disorders; Leigh syndrome; Mitochondrial Leukoencephalopathy; Leigh syndrome associated with mitochondrial complex I deficiency
Leukodystrophy - paediatric v0.0 NDUFS1 Bryony Thompson gene: NDUFS1 was added
gene: NDUFS1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial complex I disorders; MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY; Mitochondrial Leukoencephalopathy
Leukodystrophy - paediatric v0.0 NDUFAF3 Bryony Thompson gene: NDUFAF3 was added
gene: NDUFAF3 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NDUFAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF3 were set to Mitochondrial complex I deficiency 252010
Leukodystrophy - paediatric v0.0 NDUFAF1 Bryony Thompson gene: NDUFAF1 was added
gene: NDUFAF1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NDUFAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF1 were set to Mitochondrial Leukoencephalopathy
Leukodystrophy - paediatric v0.0 NAXE Bryony Thompson gene: NAXE was added
gene: NAXE was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAXE were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM#617186
Leukodystrophy - paediatric v0.0 MTFMT Bryony Thompson gene: MTFMT was added
gene: MTFMT was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTFMT were set to Combined oxidative phosphorylation deficiency 15; 22499348; 23499752; 614947
Leukodystrophy - adult onset v0.0 MLC1 Bryony Thompson gene: MLC1 was added
gene: MLC1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy with subcortical cysts (MLC); General Leukodystrophy & Mitochondrial Leukoencephalopathy
Leukodystrophy - paediatric v0.0 LYRM7 Bryony Thompson gene: LYRM7 was added
gene: LYRM7 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYRM7 were set to 615838; Mitochondrial complex III deficiency, nuclear type 8; leukoencephalopathy and complex III deficiency; severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle
Leukodystrophy - paediatric v0.0 ISCA2 Bryony Thompson gene: ISCA2 was added
gene: ISCA2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISCA2 were set to Multiple mitochondrial dysfunctions syndrome 4, 616370
Leukodystrophy - paediatric v0.0 IFIH1 Bryony Thompson gene: IFIH1 was added
gene: IFIH1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: IFIH1 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Aicardi-Goutieres Syndrome; Aicardi-Goutieres syndrome 7
Leukodystrophy - paediatric v0.0 IBA57 Bryony Thompson gene: IBA57 was added
gene: IBA57 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IBA57 were set to Multiple mitochondrial dysfunctions syndrome 3, 615330
Leukodystrophy - paediatric v0.0 HSPD1 Bryony Thompson gene: HSPD1 was added
gene: HSPD1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HSPD1 was set to
Phenotypes for gene: HSPD1 were set to Spastic paraplegia 13, autosomal dominant, 605280; Leukodystrophy, hypomyelinating, 4, 612233
Leukodystrophy - paediatric v0.0 HSD17B4 Bryony Thompson gene: HSD17B4 was added
gene: HSD17B4 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD17B4 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Peroxisome-Associated Disorders & Zellweger Syndrome; D-bifunctional protein deficiency
Leukodystrophy - paediatric v0.0 HIKESHI Bryony Thompson gene: HIKESHI was added
gene: HIKESHI was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HIKESHI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HIKESHI were set to Leukodystrophy, hypomyelinating, 13, MIM#616881
Leukodystrophy - paediatric v0.0 GFM1 Bryony Thompson gene: GFM1 was added
gene: GFM1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1; Mitochondrial Leukoencephalopathy; General Leukodystrophy & Mitochondrial Leukoencephalopathy
Leukodystrophy - paediatric v0.0 FUCA1 Bryony Thompson gene: FUCA1 was added
gene: FUCA1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FUCA1 were set to Fucosidosis; General Leukodystrophy & Mitochondrial Leukoencephalopathy
Leukodystrophy - paediatric v0.0 FOLR1 Bryony Thompson gene: FOLR1 was added
gene: FOLR1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency 613068
Leukodystrophy - paediatric v0.0 FAM126A Bryony Thompson gene: FAM126A was added
gene: FAM126A was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM126A were set to Hypomyelination and Congenital Cataract; Leukodystrophy, hypomyelinating, 5, 610532
Leukodystrophy - paediatric v0.0 FA2H Bryony Thompson gene: FA2H was added
gene: FA2H was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive, MIM#612319
Leukodystrophy - paediatric v0.0 ETFDH Bryony Thompson gene: ETFDH was added
gene: ETFDH was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFDH were set to Mitochondrial Leukoencephalopathy; Glutaric Acidemia IIC
Leukodystrophy - paediatric v0.0 ERCC8 Bryony Thompson gene: ERCC8 was added
gene: ERCC8 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC8 were set to Cockayne Syndrome; UV-sensitive syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy
Leukodystrophy - paediatric v0.0 ERCC6 Bryony Thompson gene: ERCC6 was added
gene: ERCC6 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to Cockayne syndrome; UV-sensitive syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy
Leukodystrophy - paediatric v0.0 DPYD Bryony Thompson gene: DPYD was added
gene: DPYD was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DPYD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency 274270; 5-fluorouracil toxicity 274270
Leukodystrophy - paediatric v0.0 DGUOK Bryony Thompson gene: DGUOK was added
gene: DGUOK was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGUOK were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial Leukoencephalopathy; Mitochondrial DNA depletion syndrome 3
Leukodystrophy - paediatric v0.0 D2HGDH Bryony Thompson gene: D2HGDH was added
gene: D2HGDH was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: D2HGDH were set to L2-Hydroxyglutaric aciduria
Leukodystrophy - paediatric v0.0 COX15 Bryony Thompson gene: COX15 was added
gene: COX15 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX15 were set to Mitochondrial Leukoencephalopathy; Mitochondrial complex IV disorders
Leukodystrophy - paediatric v0.0 COX10 Bryony Thompson gene: COX10 was added
gene: COX10 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX10 were set to Mitochondrial Leukoencephalopathy; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial complex IV disorder
Leukodystrophy - paediatric v0.0 COQ2 Bryony Thompson gene: COQ2 was added
gene: COQ2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ2 were set to Mitochondrial Leukoencephalopathy; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Coenzyme Q10 deficiency, primary, 1
Leukodystrophy - paediatric v0.0 CNTNAP1 Bryony Thompson gene: CNTNAP1 was added
gene: CNTNAP1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNTNAP1 were set to Hypomyelinating neuropathy, congenital, 3, MIM#618186
Leukodystrophy - paediatric v0.0 CLPP Bryony Thompson gene: CLPP was added
gene: CLPP was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLPP were set to 27899912
Phenotypes for gene: CLPP were set to Perrault syndrome 3, MIM#614129
Leukodystrophy - paediatric v0.0 CIC Bryony Thompson gene: CIC was added
gene: CIC was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CIC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CIC were set to Mental retardation, autosomal dominant 45 617600
Leukodystrophy - paediatric v0.0 BOLA3 Bryony Thompson gene: BOLA3 was added
gene: BOLA3 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BOLA3 were set to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM#614299
Leukodystrophy - paediatric v0.0 BCS1L Bryony Thompson gene: BCS1L was added
gene: BCS1L was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCS1L were set to Mitochondrial complex III disorders; Mitochondrial Leukoencephalopathy
Leukodystrophy - adult onset v0.0 ASPA Bryony Thompson gene: ASPA was added
gene: ASPA was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASPA were set to 25655951; General Leukodystrophy & Mitochondrial Leukoencephalopathy
Leukodystrophy - paediatric v0.0 AIMP1 Bryony Thompson gene: AIMP1 was added
gene: AIMP1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AIMP1 were set to Leukodystrophy, hypomyelinating, 3 260600
Leukodystrophy - paediatric v0.0 AIFM1 Bryony Thompson gene: AIFM1 was added
gene: AIFM1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AIFM1 were set to 28842795
Phenotypes for gene: AIFM1 were set to hypomyelinating leukodystrophy and spondylometaphyseal dysplasia
Leukodystrophy - paediatric v0.0 ACOX1 Bryony Thompson gene: ACOX1 was added
gene: ACOX1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency 264470; General Leukodystrophy & Mitochondrial Leukoencephalopathy
Leukodystrophy - adult onset v0.0 ZFYVE26 Bryony Thompson gene: ZFYVE26 was added
gene: ZFYVE26 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive, 270700
Leukodystrophy - adult onset v0.0 TYROBP Bryony Thompson gene: TYROBP was added
gene: TYROBP was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYROBP were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770
Leukodystrophy - adult onset v0.0 TUBB4A Bryony Thompson gene: TUBB4A was added
gene: TUBB4A was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB4A were set to Leukodystrophy, hypomyelinating, 6, 612438
Leukodystrophy - adult onset v0.0 TREX1 Bryony Thompson gene: TREX1 was added
gene: TREX1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; Vasculopathy, retinal, with cerebral leukodystrophy, 192315
Leukodystrophy - adult onset v0.0 TREM2 Bryony Thompson gene: TREM2 was added
gene: TREM2 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TREM2 were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193
Leukodystrophy - paediatric v0.0 TMEM106B Bryony Thompson gene: TMEM106B was added
gene: TMEM106B was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TMEM106B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TMEM106B were set to Leukodystrophy, hypomyelinating 16, MIM#617964
Leukodystrophy - adult onset v0.0 SPG11 Bryony Thompson gene: SPG11 was added
gene: SPG11 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPG11 were set to Charcot-Marie-Tooth disease, axonal, type 2X, 616668; Spastic paraplegia 11, autosomal recessive, MIM#604360
Leukodystrophy - adult onset v0.0 SNORD118 Bryony Thompson gene: SNORD118 was added
gene: SNORD118 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNORD118 were set to 614561; Leukoencephalopathy, brain calcifications and cysts, 614561
Leukodystrophy - adult onset v0.0 SAMHD1 Bryony Thompson gene: SAMHD1 was added
gene: SAMHD1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome 5, 612952
Leukodystrophy - adult onset v0.0 RPS6KA3 Bryony Thompson gene: RPS6KA3 was added
gene: RPS6KA3 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: RPS6KA3 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: RPS6KA3 were set to Coffin-Lowry syndrome, 303600
Leukodystrophy - adult onset v0.0 RPIA Bryony Thompson gene: RPIA was added
gene: RPIA was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPIA were set to Ribose 5-phosphate isomerase deficiency, MIM#608611
Leukodystrophy - adult onset v0.0 RNF216 Bryony Thompson gene: RNF216 was added
gene: RNF216 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF216 were set to 28334938; 26250479
Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
Leukodystrophy - adult onset v0.0 RNASET2 Bryony Thompson gene: RNASET2 was added
gene: RNASET2 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASET2 were set to Leukoencephalopathy, cystic, without megalencephaly, 612951
Leukodystrophy - adult onset v0.0 RNASEH2C Bryony Thompson gene: RNASEH2C was added
gene: RNASEH2C was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2C were set to Aicardi-Goutieres syndrome 3, 610329
Leukodystrophy - adult onset v0.0 RNASEH2B Bryony Thompson gene: RNASEH2B was added
gene: RNASEH2B was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome 2, 610181
Leukodystrophy - adult onset v0.0 RNASEH2A Bryony Thompson gene: RNASEH2A was added
gene: RNASEH2A was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome 4, 610333
Leukodystrophy - adult onset v0.0 PTEN Bryony Thompson gene: PTEN was added
gene: PTEN was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PTEN were set to 29720545; 29152901; 30664625
Leukodystrophy - adult onset v0.0 PSAP Bryony Thompson gene: PSAP was added
gene: PSAP was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAP were set to Metachromatic leukodystrophy due to SAP-b deficiency, 249900; Krabbe disease, atypical, 611722
Leukodystrophy - adult onset v0.0 POLR3B Bryony Thompson gene: POLR3B was added
gene: POLR3B was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381
Leukodystrophy - adult onset v0.0 POLR3A Bryony Thompson gene: POLR3A was added
gene: POLR3A was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694
Leukodystrophy - adult onset v0.0 POLR1C Bryony Thompson gene: POLR1C was added
gene: POLR1C was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR1C were set to Leukodystrophy, hypomyelinating, 11
Leukodystrophy - adult onset v0.0 PLP1 Bryony Thompson gene: PLP1 was added
gene: PLP1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease, 312080
Leukodystrophy - paediatric v0.0 PEX7 Bryony Thompson gene: PEX7 was added
gene: PEX7 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to Peroxisome biogenesis disorder 9B, 614879
Leukodystrophy - paediatric v0.0 PEX6 Bryony Thompson gene: PEX6 was added
gene: PEX6 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger), 614862; Peroxisome biogenesis disorder 4B, 614863
Leukodystrophy - paediatric v0.0 PEX5 Bryony Thompson gene: PEX5 was added
gene: PEX5 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger), 214110; Peroxisome biogenesis disorder 2B, 202370
Leukodystrophy - paediatric v0.0 PEX3 Bryony Thompson gene: PEX3 was added
gene: PEX3 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX3 were set to Peroxisome biogenesis disorder 10A (Zellweger), 614882; ?Peroxisome biogenesis disorder 10B, 617370
Leukodystrophy - paediatric v0.0 PEX26 Bryony Thompson gene: PEX26 was added
gene: PEX26 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger), 614872; Peroxisome biogenesis disorder 7B, 614873
Leukodystrophy - paediatric v0.0 PEX2 Bryony Thompson gene: PEX2 was added
gene: PEX2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5B, 614867; Peroxisome biogenesis disorder 5A (Zellweger) 614866
Leukodystrophy - paediatric v0.0 PEX19 Bryony Thompson gene: PEX19 was added
gene: PEX19 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX19 were set to Peroxisome biogenesis disorder 12A (Zellweger), 614886
Leukodystrophy - paediatric v0.0 PEX16 Bryony Thompson gene: PEX16 was added
gene: PEX16 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8A (Zellweger), 614876; Peroxisome biogenesis disorder 8B, 614877
Leukodystrophy - paediatric v0.0 PEX14 Bryony Thompson gene: PEX14 was added
gene: PEX14 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX14 were set to Peroxisome biogenesis disorder 13A (Zellweger), 614887
Leukodystrophy - paediatric v0.0 PEX13 Bryony Thompson gene: PEX13 was added
gene: PEX13 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11B, 614885; Peroxisome biogenesis disorder 11A (Zellweger), 614883
Leukodystrophy - paediatric v0.0 PEX12 Bryony Thompson gene: PEX12 was added
gene: PEX12 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A, 614859; Peroxisome biogenesis disorder 3B, 266510
Leukodystrophy - paediatric v0.0 PEX11B Bryony Thompson gene: PEX11B was added
gene: PEX11B was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX11B were set to ?Peroxisome biogenesis disorder 14B, 614920
Leukodystrophy - paediatric v0.0 PEX10 Bryony Thompson gene: PEX10 was added
gene: PEX10 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6B, 614871
Leukodystrophy - paediatric v0.0 PEX1 Bryony Thompson gene: PEX1 was added
gene: PEX1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1B (NALD/IRD), 601539
Leukodystrophy - adult onset v0.0 PAH Bryony Thompson gene: PAH was added
gene: PAH was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAH were set to Phenylketonuria, [Hyperphenylalaninemia, non-PKU mild], 261600
Leukodystrophy - paediatric v0.0 OCRL Bryony Thompson gene: OCRL was added
gene: OCRL was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OCRL were set to Lowe syndrome, 309000
Leukodystrophy - adult onset v0.0 NOTCH3 Bryony Thompson gene: NOTCH3 was added
gene: NOTCH3 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NOTCH3 were set to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310
Leukodystrophy - adult onset v0.0 MTHFR Bryony Thompson gene: MTHFR was added
gene: MTHFR was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTHFR were set to Homocystinuria due to MTHFR deficiency, 236250
Leukodystrophy - adult onset v0.0 MCOLN1 Bryony Thompson gene: MCOLN1 was added
gene: MCOLN1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCOLN1 were set to Mucolipidosis IV, 252650
Leukodystrophy - adult onset v0.0 MARS Bryony Thompson gene: MARS was added
gene: MARS was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: MARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MARS were set to Charcot-Marie-Tooth disease, axonal, type 2U, 616280
Leukodystrophy - adult onset v0.0 LMNB1 Bryony Thompson gene: LMNB1 was added
gene: LMNB1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LMNB1 were set to Leukodystrophy, adult-onset, autosomal dominant, 169500
Leukodystrophy - adult onset v0.0 L2HGDH Bryony Thompson gene: L2HGDH was added
gene: L2HGDH was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: L2HGDH were set to L-2-hydroxyglutaric aciduria, 236792
Leukodystrophy - paediatric v0.0 KIF5A Bryony Thompson gene: KIF5A was added
gene: KIF5A was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIF5A were set to Myoclonus, intractable, neonatal, MIM#617235
Leukodystrophy - adult onset v0.0 HTRA1 Bryony Thompson gene: HTRA1 was added
gene: HTRA1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HTRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HTRA1 were set to Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779; CARASIL syndrome, 600142
Leukodystrophy - paediatric v0.0 HMGCL Bryony Thompson gene: HMGCL was added
gene: HMGCL was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMGCL were set to HMG-CoA lyase deficiency, 246450
Leukodystrophy - adult onset v0.0 HEXA Bryony Thompson gene: HEXA was added
gene: HEXA was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to GM2-gangliosidosis, several forms, Tay-Sachs disease, [Hex A pseudodeficiency], 272800
Leukodystrophy - adult onset v0.0 HEPACAM Bryony Thompson gene: HEPACAM was added
gene: HEPACAM was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HEPACAM was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HEPACAM were set to Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926
Leukodystrophy - adult onset v0.0 GLB1 Bryony Thompson gene: GLB1 was added
gene: GLB1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLB1 were set to GM1-gangliosidosis, type III, MIM#230650; white matter abnormality
Leukodystrophy - adult onset v0.0 GLA Bryony Thompson gene: GLA was added
gene: GLA was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GLA were set to Fabry disease, Fabry disease, cardiac variant, 301500
Leukodystrophy - adult onset v0.0 GJC2 Bryony Thompson gene: GJC2 was added
gene: GJC2 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GJC2 were set to Leukodystrophy, hypomyelinating, 2, 608804,
Leukodystrophy - adult onset v0.0 GJB1 Bryony Thompson gene: GJB1 was added
gene: GJB1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800
Leukodystrophy - adult onset v0.0 GJA1 Bryony Thompson gene: GJA1 was added
gene: GJA1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJA1 were set to Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850
Leukodystrophy - adult onset v0.0 GFAP Bryony Thompson gene: GFAP was added
gene: GFAP was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GFAP were set to Alexander disease, 203450
Leukodystrophy - adult onset v0.0 GCDH Bryony Thompson gene: GCDH was added
gene: GCDH was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCDH were set to Glutaricaciduria, type I, MIM#231670
Leukodystrophy - adult onset v0.0 GBE1 Bryony Thompson gene: GBE1 was added
gene: GBE1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBE1 were set to Polyglucosan body disease, adult form, 263570
Leukodystrophy - adult onset v0.0 GAN Bryony Thompson gene: GAN was added
gene: GAN was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAN were set to Giant axonal neuropathy-1, MIM#256850
Leukodystrophy - adult onset v0.0 GALC Bryony Thompson gene: GALC was added
gene: GALC was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALC were set to Krabbe disease, 245200
Leukodystrophy - adult onset v0.0 EPRS Bryony Thompson gene: EPRS was added
gene: EPRS was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EPRS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPRS were set to Leukodystrophy, hypomyelinating, 15, MIM#617951
Leukodystrophy - adult onset v0.0 EIF2B5 Bryony Thompson gene: EIF2B5 was added
gene: EIF2B5 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B5 were set to Leukoencephalopathy with vanishing white matter, 603896
Leukodystrophy - adult onset v0.0 EIF2B4 Bryony Thompson gene: EIF2B4 was added
gene: EIF2B4 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B4 were set to Leukoencephalopathy with vanishing white matter, 603896
Leukodystrophy - adult onset v0.0 EIF2B3 Bryony Thompson gene: EIF2B3 was added
gene: EIF2B3 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B3 were set to Leukoencephalopathy with vanishing white matter, 603896
Leukodystrophy - adult onset v0.0 EIF2B2 Bryony Thompson gene: EIF2B2 was added
gene: EIF2B2 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy, 603896
Leukodystrophy - adult onset v0.0 EIF2B1 Bryony Thompson gene: EIF2B1 was added
gene: EIF2B1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter, 603896
Leukodystrophy - adult onset v0.0 EARS2 Bryony Thompson gene: EARS2 was added
gene: EARS2 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EARS2 were set to Combined oxidative phosphorylation deficiency 12, 614924
Leukodystrophy - adult onset v0.0 DCAF17 Bryony Thompson gene: DCAF17 was added
gene: DCAF17 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCAF17 were set to 31347785
Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome, MIM#241080
Leukodystrophy - adult onset v0.0 DARS2 Bryony Thompson gene: DARS2 was added
gene: DARS2 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Leukodystrophy - adult onset v0.0 DARS Bryony Thompson gene: DARS was added
gene: DARS was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS were set to Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Leukodystrophy - adult onset v0.0 CYP27A1 Bryony Thompson gene: CYP27A1 was added
gene: CYP27A1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700
Leukodystrophy - adult onset v0.0 CTSA Bryony Thompson gene: CTSA was added
gene: CTSA was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CTSA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTSA were set to 31177426
Phenotypes for gene: CTSA were set to Cathepsin-A-related arteriopathy with strokes and leukoencephalopathy
Leukodystrophy - adult onset v0.0 CTC1 Bryony Thompson gene: CTC1 was added
gene: CTC1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts, 612199
Leukodystrophy - adult onset v0.0 CSF1R Bryony Thompson gene: CSF1R was added
gene: CSF1R was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CSF1R was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CSF1R were set to Leukoencephalopathy, diffuse hereditary, with spheroids, 221820
Leukodystrophy - adult onset v0.0 COL4A2 Bryony Thompson gene: COL4A2 was added
gene: COL4A2 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COL4A2 were set to 30413629; 27624120; 24390199
Phenotypes for gene: COL4A2 were set to Brain small vessel disease 2, 614483
Leukodystrophy - adult onset v0.0 COL4A1 Bryony Thompson gene: COL4A1 was added
gene: COL4A1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL4A1 were set to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773; Brain small vessel disease with or without ocular anomalies, 175780
Leukodystrophy - adult onset v0.0 APOPT1 Bryony Thompson gene: APOPT1 was added
gene: APOPT1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, MIM#220110
Leukodystrophy - adult onset v0.0 CLCN2 Bryony Thompson gene: CLCN2 was added
gene: CLCN2 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CLCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLCN2 were set to Leukoencephalopathy with ataxia, 615651
Leukodystrophy - adult onset v0.0 ARSA Bryony Thompson gene: ARSA was added
gene: ARSA was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy, 250100
Leukodystrophy - adult onset v0.0 ALDH3A2 Bryony Thompson gene: ALDH3A2 was added
gene: ALDH3A2 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome, 270200
Leukodystrophy - adult onset v0.0 ADAR Bryony Thompson gene: ADAR was added
gene: ADAR was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, 615010
Leukodystrophy - adult onset v0.0 ABCD1 Bryony Thompson gene: ABCD1 was added
gene: ABCD1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCD1 were set to Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, 300100
Leukodystrophy - adult onset v0.0 AARS2 Bryony Thompson gene: AARS2 was added
gene: AARS2 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AARS2 were set to Leukoencephalopathy, progressive, with ovarian failure, 615889
Leukodystrophy - paediatric v0.0 AARS Bryony Thompson gene: AARS was added
gene: AARS was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AARS were set to Epileptic encephalopathy, early infantile, 29, MIM#616339
Leukodystrophy - adult onset v0.0 Bryony Thompson Added panel Leukodystrophy - adult onset_RMH
Leukodystrophy - paediatric v0.0 Bryony Thompson Added panel Leukodystrophy - paediatric_RMH
Hydrops fetalis v0.73 IDUA Zornitza Stark Phenotypes for gene: IDUA were changed from Hurler syndrome, MPS 1 to Hurler syndrome, MPS 1
Hydrops fetalis v0.73 IDUA Zornitza Stark Marked gene: IDUA as ready
Hydrops fetalis v0.73 IDUA Zornitza Stark Gene: idua has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.73 IDUA Zornitza Stark Phenotypes for gene: IDUA were changed from to Hurler syndrome, MPS 1
Hydrops fetalis v0.72 IDUA Zornitza Stark Publications for gene: IDUA were set to
Hydrops fetalis v0.71 IDUA Zornitza Stark Mode of inheritance for gene: IDUA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.70 IDUA Zornitza Stark Classified gene: IDUA as Amber List (moderate evidence)
Hydrops fetalis v0.70 IDUA Zornitza Stark Gene: idua has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.69 IDUA Zornitza Stark reviewed gene: IDUA: Rating: AMBER; Mode of pathogenicity: None; Publications: 27928775; Phenotypes: Hurler syndrome, MPS 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.69 KAT6B Zornitza Stark Marked gene: KAT6B as ready
Hydrops fetalis v0.69 KAT6B Zornitza Stark Gene: kat6b has been classified as Red List (Low Evidence).
Hydrops fetalis v0.69 KAT6B Zornitza Stark Mode of inheritance for gene: KAT6B was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.68 KAT6B Zornitza Stark Classified gene: KAT6B as Red List (low evidence)
Hydrops fetalis v0.68 KAT6B Zornitza Stark Gene: kat6b has been classified as Red List (Low Evidence).
Hydrops fetalis v0.67 KIF23 George McGillivray reviewed gene: KIF23: Rating: AMBER; Mode of pathogenicity: None; Publications: 9490563, 7711721; Phenotypes: congenital dyserythropoietic anaemia type III; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.459 KIF23 Zornitza Stark Marked gene: KIF23 as ready
Mendeliome v0.459 KIF23 Zornitza Stark Gene: kif23 has been classified as Red List (Low Evidence).
Mendeliome v0.459 KIF23 Zornitza Stark Phenotypes for gene: KIF23 were changed from to Congenital dyserythropoietic anemia
Mendeliome v0.458 KIF23 Zornitza Stark Publications for gene: KIF23 were set to
Mendeliome v0.457 KIF23 Zornitza Stark Mode of inheritance for gene: KIF23 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.456 KIF23 Zornitza Stark Classified gene: KIF23 as Red List (low evidence)
Mendeliome v0.456 KIF23 Zornitza Stark Gene: kif23 has been classified as Red List (Low Evidence).
Mendeliome v0.455 KIF23 Zornitza Stark reviewed gene: KIF23: Rating: RED; Mode of pathogenicity: None; Publications: 23570799; Phenotypes: Congenital dyserythropoietic anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.67 KIF23 Zornitza Stark Marked gene: KIF23 as ready
Hydrops fetalis v0.67 KIF23 Zornitza Stark Gene: kif23 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.67 KIF23 Zornitza Stark Phenotypes for gene: KIF23 were changed from to Congenital dyserythropoietic anaemia
Hydrops fetalis v0.66 KIF23 Zornitza Stark Publications for gene: KIF23 were set to
Hydrops fetalis v0.65 KIF23 Zornitza Stark Mode of inheritance for gene: KIF23 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.64 KIF23 Zornitza Stark Classified gene: KIF23 as Red List (low evidence)
Hydrops fetalis v0.64 KIF23 Zornitza Stark Gene: kif23 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.63 KIF23 Zornitza Stark reviewed gene: KIF23: Rating: RED; Mode of pathogenicity: None; Publications: 23570799; Phenotypes: Congenital dyserythropoietic anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.63 DOK7 Zornitza Stark Phenotypes for gene: DOK7 were changed from Fetal akinesia deformation sequence 3, MIM# 618389 to Fetal akinesia deformation sequence 3, MIM# 618389
Hydrops fetalis v0.62 DOK7 Zornitza Stark Marked gene: DOK7 as ready
Hydrops fetalis v0.62 DOK7 Zornitza Stark Gene: dok7 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.62 DOK7 Zornitza Stark Phenotypes for gene: DOK7 were changed from Fetal akinesia deformation sequence 3, MIM# 618389 to Fetal akinesia deformation sequence 3, MIM# 618389
Hydrops fetalis v0.62 DOK7 Zornitza Stark Phenotypes for gene: DOK7 were changed from to Fetal akinesia deformation sequence 3, MIM# 618389
Hydrops fetalis v0.61 DOK7 Zornitza Stark Publications for gene: DOK7 were set to
Hydrops fetalis v0.60 DOK7 Zornitza Stark Mode of inheritance for gene: DOK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.59 DOK7 Zornitza Stark Classified gene: DOK7 as Amber List (moderate evidence)
Hydrops fetalis v0.59 DOK7 Zornitza Stark Gene: dok7 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.58 DOK7 Zornitza Stark reviewed gene: DOK7: Rating: AMBER; Mode of pathogenicity: None; Publications: 31880392, 19261599; Phenotypes: Fetal akinesia deformation sequence 3, MIM# 618389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.58 COLQ Zornitza Stark Marked gene: COLQ as ready
Hydrops fetalis v0.58 COLQ Zornitza Stark Gene: colq has been classified as Red List (Low Evidence).
Hydrops fetalis v0.58 COLQ Zornitza Stark Phenotypes for gene: COLQ were changed from Myasthenic syndrome, congenital, 5, MIM# 603034 to Myasthenic syndrome, congenital, 5, MIM# 603034
Hydrops fetalis v0.57 COLQ Zornitza Stark Phenotypes for gene: COLQ were changed from to Myasthenic syndrome, congenital, 5, MIM# 603034
Hydrops fetalis v0.57 COLQ Zornitza Stark Mode of inheritance for gene: COLQ was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.56 COLQ Zornitza Stark Mode of inheritance for gene: COLQ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.55 COLQ Zornitza Stark Classified gene: COLQ as Red List (low evidence)
Hydrops fetalis v0.55 COLQ Zornitza Stark Gene: colq has been classified as Red List (Low Evidence).
Hydrops fetalis v0.54 COLQ Zornitza Stark reviewed gene: COLQ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 5, MIM# 603034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.54 CHRNG Zornitza Stark commented on gene: CHRNG: Typically presents with cystic hygroma/hydrops fetalis.
Hydrops fetalis v0.54 CHRNG Zornitza Stark Marked gene: CHRNG as ready
Hydrops fetalis v0.54 CHRNG Zornitza Stark Gene: chrng has been classified as Green List (High Evidence).
Hydrops fetalis v0.54 CHRNG Zornitza Stark Phenotypes for gene: CHRNG were changed from to Multiple pterygium syndrome, lethal type, MIM# 253290
Hydrops fetalis v0.53 CHRNG Zornitza Stark Mode of inheritance for gene: CHRNG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.52 CHRNG Zornitza Stark reviewed gene: CHRNG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.52 CHRNE Zornitza Stark Marked gene: CHRNE as ready
Hydrops fetalis v0.52 CHRNE Zornitza Stark Gene: chrne has been classified as Red List (Low Evidence).
Hydrops fetalis v0.52 CHRNE Zornitza Stark Phenotypes for gene: CHRNE were changed from to Congenital myasthenic syndromes
Hydrops fetalis v0.51 CHRNE Zornitza Stark Mode of inheritance for gene: CHRNE was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hydrops fetalis v0.50 CHRNE Zornitza Stark Classified gene: CHRNE as Red List (low evidence)
Hydrops fetalis v0.50 CHRNE Zornitza Stark Gene: chrne has been classified as Red List (Low Evidence).
Hydrops fetalis v0.49 CHRNE Zornitza Stark reviewed gene: CHRNE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myasthenic syndromes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hydrops fetalis v0.49 KLF1 George McGillivray reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29300242, 25724378, 28265383; Phenotypes: Congenital Dyserythropoietic Anemia Type IV, severe nonspherocytic hemolytic anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.49 CHRND Zornitza Stark Marked gene: CHRND as ready
Hydrops fetalis v0.49 CHRND Zornitza Stark Gene: chrnd has been classified as Green List (High Evidence).
Hydrops fetalis v0.49 CHRND Zornitza Stark Phenotypes for gene: CHRND were changed from to Multiple pterygium syndrome, lethal type, MIM# 253290
Hydrops fetalis v0.48 CHRND Zornitza Stark Mode of inheritance for gene: CHRND was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.47 CHRND Zornitza Stark commented on gene: CHRND: Typically presents with cystic hygroma/hydrops fetalis.
Hydrops fetalis v0.47 CHRND Zornitza Stark reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.47 CHRNA1 Zornitza Stark Marked gene: CHRNA1 as ready
Hydrops fetalis v0.47 CHRNA1 Zornitza Stark Gene: chrna1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.47 CHRNA1 Zornitza Stark Phenotypes for gene: CHRNA1 were changed from to Multiple pterygium syndrome, lethal type, MIM# 253290
Hydrops fetalis v0.46 CHRNA1 Zornitza Stark Mode of inheritance for gene: CHRNA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.45 CHRNA1 Zornitza Stark reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.45 KIAA0586 George McGillivray gene: KIAA0586 was added
gene: KIAA0586 was added to Hydrops fetalis_VCGS. Sources: Other
Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0586 were set to KIAA0586
Phenotypes for gene: KIAA0586 were set to Hydrolethalus
Review for gene: KIAA0586 was set to AMBER
Added comment: 20191230:
PMID 26166481 reports a single case from 8 affected from 4 families
Sources: Other
Hydrops fetalis v0.45 KAT6B George McGillivray gene: KAT6B was added
gene: KAT6B was added to Hydrops fetalis_VCGS. Sources: Other
Mode of inheritance for gene: KAT6B was set to BIALLELIC, autosomal or pseudoautosomal
Review for gene: KAT6B was set to RED
Added comment: 20191230- Currently on the Greenwood Genetic Centre List but no Pubmed evidence that I can find
Sources: Other
Hydrops fetalis v0.45 ATP1A2 Zornitza Stark Marked gene: ATP1A2 as ready
Hydrops fetalis v0.45 ATP1A2 Zornitza Stark Added comment: Comment when marking as ready: This is a distinct phenotype from the mono allelic variants associated with alternating hemiplegia.
Hydrops fetalis v0.45 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Green List (High Evidence).
Hydrops fetalis v0.45 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations to hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations
Hydrops fetalis v0.44 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from to hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations
Hydrops fetalis v0.44 ATP1A2 Zornitza Stark Publications for gene: ATP1A2 were set to 30690204
Hydrops fetalis v0.43 ATP1A2 Zornitza Stark Publications for gene: ATP1A2 were set to
Hydrops fetalis v0.42 ATP1A2 Zornitza Stark Mode of inheritance for gene: ATP1A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.41 ATP1A2 Zornitza Stark reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30690204; Phenotypes: hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.41 ALG8 Zornitza Stark Marked gene: ALG8 as ready
Hydrops fetalis v0.41 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Hydrops fetalis v0.41 ALG1 Zornitza Stark Classified gene: ALG1 as Amber List (moderate evidence)
Hydrops fetalis v0.41 ALG1 Zornitza Stark Added comment: Comment on list classification: CDGs are a recognised cause of nonimmune fetal hydrops; however, single report of ALG1 and hydrops identified.
Hydrops fetalis v0.41 ALG1 Zornitza Stark Gene: alg1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.40 TRIP11 Zornitza Stark Classified gene: TRIP11 as Amber List (moderate evidence)
Hydrops fetalis v0.40 TRIP11 Zornitza Stark Gene: trip11 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.39 TRIP11 Zornitza Stark gene: TRIP11 was added
gene: TRIP11 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIP11 were set to 30951048; 8897040
Phenotypes for gene: TRIP11 were set to Achondrogenesis, type IA, MIM# 200600
Review for gene: TRIP11 was set to AMBER
Added comment: Case reports of hydrops in radiographically diagnosed babies.
Sources: Expert list
Hydrops fetalis v0.38 TAZ Zornitza Stark Marked gene: TAZ as ready
Hydrops fetalis v0.38 TAZ Zornitza Stark Gene: taz has been classified as Green List (High Evidence).
Hydrops fetalis v0.38 TAZ Zornitza Stark Publications for gene: TAZ were set to 29476731; 31598953
Hydrops fetalis v0.37 TAZ Zornitza Stark Classified gene: TAZ as Green List (high evidence)
Hydrops fetalis v0.37 TAZ Zornitza Stark Gene: taz has been classified as Green List (High Evidence).
Hydrops fetalis v0.36 TAZ Zornitza Stark gene: TAZ was added
gene: TAZ was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TAZ were set to 29476731; 31598953
Phenotypes for gene: TAZ were set to Barth syndrome, MIM#302060
Review for gene: TAZ was set to GREEN
Added comment: Cardiomyopathy is a recognised feature and hydrops has been described in case reports.
Sources: Expert list
Hydrops fetalis v0.35 SUMF1 Zornitza Stark Marked gene: SUMF1 as ready
Hydrops fetalis v0.35 SUMF1 Zornitza Stark Gene: sumf1 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.35 SUMF1 Zornitza Stark gene: SUMF1 was added
gene: SUMF1 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUMF1 were set to 31497481
Phenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency, MIM# 272200
Review for gene: SUMF1 was set to RED
Added comment: Single case report found of hydrops in this metabolic condition.
Sources: Expert list
Hydrops fetalis v0.34 SLC26A2 Zornitza Stark Marked gene: SLC26A2 as ready
Hydrops fetalis v0.34 SLC26A2 Zornitza Stark Gene: slc26a2 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.34 SLC26A2 Zornitza Stark Classified gene: SLC26A2 as Amber List (moderate evidence)
Hydrops fetalis v0.34 SLC26A2 Zornitza Stark Gene: slc26a2 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.33 SLC26A2 Zornitza Stark gene: SLC26A2 was added
gene: SLC26A2 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC26A2 were set to 31880411
Phenotypes for gene: SLC26A2 were set to Achondrogenesis Ib, MIM# 600972
Review for gene: SLC26A2 was set to AMBER
Added comment: Hydrops can be a presenting feature of this skeletal dysplasia, one case report found.
Sources: Expert list
Hydrops fetalis v0.32 PSAT1 Zornitza Stark Marked gene: PSAT1 as ready
Hydrops fetalis v0.32 PSAT1 Zornitza Stark Gene: psat1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.32 PSAT1 Zornitza Stark Classified gene: PSAT1 as Amber List (moderate evidence)
Hydrops fetalis v0.32 PSAT1 Zornitza Stark Added comment: Comment on list classification: Unclear how frequently hydrops is a manifestation, skin oedema mentioned in a couple of case reports.
Hydrops fetalis v0.32 PSAT1 Zornitza Stark Gene: psat1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.31 PSAT1 Zornitza Stark gene: PSAT1 was added
gene: PSAT1 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSAT1 were set to 30838783; 27475004
Phenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2, MIM# 616038
Review for gene: PSAT1 was set to GREEN
Added comment: Hydrops can be a presenting feature.
Sources: Expert list
Hydrops fetalis v0.30 PIGA Zornitza Stark Marked gene: PIGA as ready
Hydrops fetalis v0.30 PIGA Zornitza Stark Gene: piga has been classified as Red List (Low Evidence).
Hydrops fetalis v0.30 PIGA Zornitza Stark gene: PIGA was added
gene: PIGA was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868
Review for gene: PIGA was set to RED
Added comment: Cannot find specific reports of hydrops though it is listed as a feature in OMIM.
Sources: Expert list
Hydrops fetalis v0.29 PHGDH Zornitza Stark Marked gene: PHGDH as ready
Hydrops fetalis v0.29 PHGDH Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence).
Hydrops fetalis v0.29 PHGDH Zornitza Stark Classified gene: PHGDH as Green List (high evidence)
Hydrops fetalis v0.29 PHGDH Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence).
Hydrops fetalis v0.28 PHGDH Zornitza Stark gene: PHGDH was added
gene: PHGDH was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHGDH were set to 11895570; 11494295
Phenotypes for gene: PHGDH were set to Neu-Laxova syndrome 1, MIM# 256520
Review for gene: PHGDH was set to GREEN
Added comment: Oedema/hydrops is a presenting feature antenatally.
Sources: Expert list
Hydrops fetalis v0.28 MVK Zornitza Stark Marked gene: MVK as ready
Hydrops fetalis v0.28 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Hydrops fetalis v0.28 MVK Zornitza Stark Classified gene: MVK as Green List (high evidence)
Hydrops fetalis v0.28 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Hydrops fetalis v0.27 MVK Zornitza Stark Publications for gene: MVK were set to 27012807; 28603204; 23146290
Hydrops fetalis v0.26 MVK Zornitza Stark Classified gene: MVK as Green List (high evidence)
Hydrops fetalis v0.26 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Hydrops fetalis v0.26 MVK Zornitza Stark Publications for gene: MVK were set to 27012807
Hydrops fetalis v0.25 MVK Zornitza Stark Classified gene: MVK as Amber List (moderate evidence)
Hydrops fetalis v0.25 MVK Zornitza Stark Added comment: Comment on list classification: Unclear how many cases have presented with hydrops, mostly historical literature.
Hydrops fetalis v0.25 MVK Zornitza Stark Gene: mvk has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.24 MVK Zornitza Stark gene: MVK was added
gene: MVK was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MVK were set to 27012807
Phenotypes for gene: MVK were set to Mevalonic aciduria, MIM#610377
Review for gene: MVK was set to GREEN
Added comment: Hydrops described in severe presentations of this metabolic condition.
Sources: Expert list
Hydrops fetalis v0.23 MGAT2 Zornitza Stark Marked gene: MGAT2 as ready
Hydrops fetalis v0.23 MGAT2 Zornitza Stark Gene: mgat2 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.23 MGAT2 Zornitza Stark gene: MGAT2 was added
gene: MGAT2 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MGAT2 were set to 31420886
Phenotypes for gene: MGAT2 were set to Congenital disorder of glycosylation, type IIa , MIM#212066
Review for gene: MGAT2 was set to RED
Added comment: One report of hydrops as a presenting feature, though a number of CDGs have been reported as presenting with hydrops
Sources: Expert list
Hydrops fetalis v0.22 GATA1 Zornitza Stark Marked gene: GATA1 as ready
Hydrops fetalis v0.22 GATA1 Zornitza Stark Gene: gata1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.22 GATA1 Zornitza Stark Classified gene: GATA1 as Green List (high evidence)
Hydrops fetalis v0.22 GATA1 Zornitza Stark Gene: gata1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.21 GATA1 Zornitza Stark gene: GATA1 was added
gene: GATA1 was added to Hydrops fetalis_VCGS. Sources: Expert list
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 10700180
Phenotypes for gene: GATA1 were set to Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM#300835
Review for gene: GATA1 was set to GREEN
Added comment: Can present with severe hydrops in utero requiring transfusion.
Sources: Expert list
Hydrops fetalis v0.20 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Hydrops fetalis v0.20 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Hydrops fetalis v0.20 DHCR7 Zornitza Stark Classified gene: DHCR7 as Green List (high evidence)
Hydrops fetalis v0.20 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Hydrops fetalis v0.19 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to 14735596; 10215064; 9856557
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, MIM#270400
Review for gene: DHCR7 was set to GREEN
Added comment: Nuchal oedema in 3/30 cases in a series, PMID 14735596; another case report 10215064; another family reported in 9856557. Rare manifestation of relatively common condition.
Sources: Expert list
Hydrops fetalis v0.18 COG6 Zornitza Stark Marked gene: COG6 as ready
Hydrops fetalis v0.18 COG6 Zornitza Stark Gene: cog6 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.18 COG6 Zornitza Stark gene: COG6 was added
gene: COG6 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: COG6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG6 were set to 31420886
Phenotypes for gene: COG6 were set to Congenital disorder of glycosylation, type Iil, MIM#614576
Review for gene: COG6 was set to RED
Added comment: One family reported with hydrops, though hydrops is a presenting feature of a number of CDGs.
Sources: Expert list
Hydrops fetalis v0.17 COL2A1 Zornitza Stark Marked gene: COL2A1 as ready
Hydrops fetalis v0.17 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.17 COL2A1 Zornitza Stark Classified gene: COL2A1 as Green List (high evidence)
Hydrops fetalis v0.17 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.16 COL2A1 Zornitza Stark gene: COL2A1 was added
gene: COL2A1 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL2A1 were set to Achondrogenesis, type II or hypochondrogenesis, MIM#200610
Review for gene: COL2A1 was set to GREEN
Added comment: Hydrops is a presenting feature.
Sources: Expert list
Hydrops fetalis v0.15 CLCNKA Zornitza Stark Marked gene: CLCNKA as ready
Hydrops fetalis v0.15 CLCNKA Zornitza Stark Gene: clcnka has been classified as Red List (Low Evidence).
Hydrops fetalis v0.15 CLCNKA Zornitza Stark gene: CLCNKA was added
gene: CLCNKA was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: CLCNKA was set to Other
Phenotypes for gene: CLCNKA were set to Bartter syndrome, type 4b, digenic, MIM#613090
Review for gene: CLCNKA was set to RED
Added comment: Typically Bartter syndrome presents with polyhydramnios antenatally, cannot find specific reference though OMIM lists hydrops as a feature.
Sources: Expert list
Hydrops fetalis v0.14 CLCNKB Zornitza Stark Marked gene: CLCNKB as ready
Hydrops fetalis v0.14 CLCNKB Zornitza Stark Gene: clcnkb has been classified as Red List (Low Evidence).
Hydrops fetalis v0.14 CLCNKB Zornitza Stark gene: CLCNKB was added
gene: CLCNKB was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: CLCNKB was set to Other
Phenotypes for gene: CLCNKB were set to Bartter syndrome, type 4b, digenic, MIM#613090
Review for gene: CLCNKB was set to RED
Added comment: Typically Bartter syndrome presents with polyhydramnios antenatally, cannot find specific reference though OMIM lists hydrops as a feature.
Sources: Expert list
Hydrops fetalis v0.13 CDAN1 Zornitza Stark Marked gene: CDAN1 as ready
Hydrops fetalis v0.13 CDAN1 Zornitza Stark Gene: cdan1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.13 CDAN1 Zornitza Stark Classified gene: CDAN1 as Green List (high evidence)
Hydrops fetalis v0.13 CDAN1 Zornitza Stark Gene: cdan1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.12 CDAN1 Zornitza Stark gene: CDAN1 was added
gene: CDAN1 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDAN1 were set to 30786798; 29668551; 29599085
Phenotypes for gene: CDAN1 were set to Dyserythropoietic anemia, congenital, type Ia, MIM#224120
Review for gene: CDAN1 was set to GREEN
Added comment: Can present with fetal hydrops.
Sources: Expert list
Hydrops fetalis v0.11 CANT1 Zornitza Stark Marked gene: CANT1 as ready
Hydrops fetalis v0.11 CANT1 Zornitza Stark Gene: cant1 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.11 CANT1 Zornitza Stark gene: CANT1 was added
gene: CANT1 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CANT1 were set to 21654728; 20358610
Phenotypes for gene: CANT1 were set to Desbuquois dysplasia 1, MIM#251450
Review for gene: CANT1 was set to RED
Added comment: Hydrops is a rare manifestation reported in Debuquois dysplasia, two families.
Sources: Expert list
Hydrops fetalis v0.10 ALG9 Zornitza Stark Marked gene: ALG9 as ready
Hydrops fetalis v0.10 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Hydrops fetalis v0.10 ALG9 Zornitza Stark Classified gene: ALG9 as Green List (high evidence)
Hydrops fetalis v0.10 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Hydrops fetalis v0.9 ALG9 Zornitza Stark gene: ALG9 was added
gene: ALG9 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG9 were set to 26453364; 31420886
Phenotypes for gene: ALG9 were set to Congenital disorder of glycosylation, type Il, MIM#608776
Review for gene: ALG9 was set to GREEN
Added comment: Hydrops reported in 20% of individuals in a review.
Sources: Expert list
Hydrops fetalis v0.8 ALG8 Zornitza Stark Marked gene: ALG8 as ready
Hydrops fetalis v0.8 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Hydrops fetalis v0.8 ALG8 Zornitza Stark Publications for gene: ALG8 were set to 26066342
Hydrops fetalis v0.7 ALG8 Zornitza Stark Classified gene: ALG8 as Green List (high evidence)
Hydrops fetalis v0.7 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Hydrops fetalis v0.6 ALG8 Zornitza Stark gene: ALG8 was added
gene: ALG8 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG8 were set to 26066342
Phenotypes for gene: ALG8 were set to Congenital disorder of glycosylation, type Ih, MIM#608104
Review for gene: ALG8 was set to GREEN
Added comment: Sources: Expert list
Hydrops fetalis v0.5 ALG1 Zornitza Stark Marked gene: ALG1 as ready
Hydrops fetalis v0.5 ALG1 Zornitza Stark Gene: alg1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.5 ALG1 Zornitza Stark Publications for gene: ALG1 were set to
Hydrops fetalis v0.4 ALG1 Zornitza Stark Classified gene: ALG1 as Green List (high evidence)
Hydrops fetalis v0.4 ALG1 Zornitza Stark Gene: alg1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.3 ALG1 Zornitza Stark gene: ALG1 was added
gene: ALG1 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG1 were set to Congenital disorder of glycosylation, type Ik, MIM#608540
Review for gene: ALG1 was set to GREEN
Added comment: Hydrops fetalis is part of the phenotype.
Sources: Expert list
Hydrops fetalis v0.2 AHCY Zornitza Stark Classified gene: AHCY as Amber List (moderate evidence)
Hydrops fetalis v0.2 AHCY Zornitza Stark Gene: ahcy has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.1 AHCY Zornitza Stark Classified gene: AHCY as Amber List (moderate evidence)
Hydrops fetalis v0.1 AHCY Zornitza Stark Gene: ahcy has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.0 AHCY Zornitza Stark Marked gene: AHCY as ready
Hydrops fetalis v0.0 AHCY Zornitza Stark Gene: ahcy has been removed from the panel.
Hydrops fetalis v0.0 AHCY George McGillivray gene: AHCY was added
gene: AHCY was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHCY were set to 30121674; 20852937
Phenotypes for gene: AHCY were set to 613752
Review for gene: AHCY was set to AMBER
Added comment: PMID 30121674:
A late-preterm infant with a prenatal diagnosis of non-immune hydrops was born with hypotonia, poor respiratory effort, chylothorax, encephalopathy, coagulopathy, progressive hepatic failure, and refractory pulmonary hypertension...
PMID 20852937:
This paper reports the clinical and metabolic findings in two sibling sisters born with fetal hydrops and eventually found to have deficient S-adenosylhomocysteine hydrolase (AHCY) activity due to compound heterozygosity for two novel mutations, c.145C>T; p.Arg49Cys and c.257A>G; p.Asp86Gly
Sources: Expert list
Regression v0.35 ATP2B3 Zornitza Stark Marked gene: ATP2B3 as ready
Regression v0.35 ATP2B3 Zornitza Stark Gene: atp2b3 has been classified as Amber List (Moderate Evidence).
Regression v0.35 ATP2B3 Zornitza Stark Phenotypes for gene: ATP2B3 were changed from Spinocerebellar ataxia, X-linked 1, MIM#302500 to Spinocerebellar ataxia, X-linked 1, MIM#302500
Regression v0.35 ATP2B3 Zornitza Stark Phenotypes for gene: ATP2B3 were changed from to Spinocerebellar ataxia, X-linked 1, MIM#302500
Regression v0.34 ATP2B3 Zornitza Stark Publications for gene: ATP2B3 were set to
Regression v0.33 ATP2B3 Zornitza Stark Mode of inheritance for gene: ATP2B3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Regression v0.32 ATP2B3 Zornitza Stark Classified gene: ATP2B3 as Amber List (moderate evidence)
Regression v0.32 ATP2B3 Zornitza Stark Gene: atp2b3 has been classified as Amber List (Moderate Evidence).
Regression v0.31 ATP2B3 Zornitza Stark reviewed gene: ATP2B3: Rating: AMBER; Mode of pathogenicity: None; Publications: 22912398, 27653636, 27632770; Phenotypes: Spinocerebellar ataxia, X-linked 1, MIM#302500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.455 ATP2B3 Zornitza Stark Marked gene: ATP2B3 as ready
Mendeliome v0.455 ATP2B3 Zornitza Stark Gene: atp2b3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.455 ATP2B3 Zornitza Stark Phenotypes for gene: ATP2B3 were changed from to Spinocerebellar ataxia, X-linked 1, MIM#302500
Mendeliome v0.454 ATP2B3 Zornitza Stark Publications for gene: ATP2B3 were set to
Mendeliome v0.453 ATP2B3 Zornitza Stark Mode of inheritance for gene: ATP2B3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.452 ATP2B3 Zornitza Stark Classified gene: ATP2B3 as Amber List (moderate evidence)
Mendeliome v0.452 ATP2B3 Zornitza Stark Gene: atp2b3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.451 ATP2B3 Zornitza Stark reviewed gene: ATP2B3: Rating: AMBER; Mode of pathogenicity: None; Publications: 22912398, 27653636, 27632770; Phenotypes: Spinocerebellar ataxia, X-linked 1, MIM#302500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Paroxysmal Dyskinesia v0.5 CACNB4 Zornitza Stark Marked gene: CACNB4 as ready
Paroxysmal Dyskinesia v0.5 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Paroxysmal Dyskinesia v0.5 CACNB4 Zornitza Stark Phenotypes for gene: CACNB4 were changed from to Episodic ataxia, type 5, MIM#613855
Paroxysmal Dyskinesia v0.4 CACNB4 Zornitza Stark Publications for gene: CACNB4 were set to
Paroxysmal Dyskinesia v0.3 CACNB4 Zornitza Stark Mode of inheritance for gene: CACNB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.2 CACNB4 Zornitza Stark Classified gene: CACNB4 as Amber List (moderate evidence)
Paroxysmal Dyskinesia v0.2 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Paroxysmal Dyskinesia v0.1 CACNB4 Zornitza Stark reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: None; Publications: 10762541, 9628818, 27003325; Phenotypes: Episodic ataxia, type 5, MIM#613855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.31 CACNB4 Zornitza Stark Marked gene: CACNB4 as ready
Regression v0.31 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Regression v0.31 CACNB4 Zornitza Stark Phenotypes for gene: CACNB4 were changed from to Episodic ataxia, type 5, MIM#613855
Regression v0.30 CACNB4 Zornitza Stark Publications for gene: CACNB4 were set to
Regression v0.29 CACNB4 Zornitza Stark Mode of inheritance for gene: CACNB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.28 CACNB4 Zornitza Stark Classified gene: CACNB4 as Amber List (moderate evidence)
Regression v0.28 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Regression v0.27 CACNB4 Zornitza Stark reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: None; Publications: 10762541, 9628818, 27003325; Phenotypes: Episodic ataxia, type 5, MIM#613855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.451 CACNB4 Zornitza Stark Marked gene: CACNB4 as ready
Mendeliome v0.451 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.451 CACNB4 Zornitza Stark Publications for gene: CACNB4 were set to