Activity

Filter

Cancel
Date Panel Item Activity
16 actions
Hydrocephalus_Ventriculomegaly v0.15 CCDC88C Zornitza Stark Phenotypes for gene: CCDC88C were changed from Hydrocephalus, nonsyndromic, autosomal recessive 236600 to Hydrocephalus, nonsyndromic, autosomal recessive 236600
Hydrocephalus_Ventriculomegaly v0.14 CCDC88C Zornitza Stark Phenotypes for gene: CCDC88C were changed from Spinocerebellar ataxia 40, MIM#616053 to Hydrocephalus, nonsyndromic, autosomal recessive 236600
Hydrocephalus_Ventriculomegaly v0.14 CCDC88C Zornitza Stark Mode of inheritance for gene: CCDC88C was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.13 CCDC88C Zornitza Stark Mode of inheritance for gene: CCDC88C was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.12 CCDC88C Zornitza Stark Classified gene: CCDC88C as Green List (high evidence)
Hydrocephalus_Ventriculomegaly v0.12 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.11 CCDC88C Zornitza Stark edited their review of gene: CCDC88C: Added comment: Three families reported with this phenotype; note also possible link to SCA, mono-allelic variants, two families.; Changed rating: GREEN; Changed publications: 23042809, 21031079; Changed phenotypes: Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Set current diagnostic: yes
Hydrocephalus_Ventriculomegaly v0.4 CCDC88C Zornitza Stark Marked gene: CCDC88C as ready
Hydrocephalus_Ventriculomegaly v0.4 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.4 CCDC88C Zornitza Stark Phenotypes for gene: CCDC88C were changed from to Spinocerebellar ataxia 40, MIM#616053
Hydrocephalus_Ventriculomegaly v0.3 CCDC88C Zornitza Stark Publications for gene: CCDC88C were set to
Hydrocephalus_Ventriculomegaly v0.2 CCDC88C Zornitza Stark Mode of inheritance for gene: CCDC88C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrocephalus_Ventriculomegaly v0.1 CCDC88C Zornitza Stark Classified gene: CCDC88C as Amber List (moderate evidence)
Hydrocephalus_Ventriculomegaly v0.1 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.0 CCDC88C Zornitza Stark reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: None; Publications: 25062847, 30398676; Phenotypes: Spinocerebellar ataxia 40, MIM#616053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrocephalus_Ventriculomegaly v0.0 CCDC88C Zornitza Stark gene: CCDC88C was added
gene: CCDC88C was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CCDC88C was set to Unknown