Activity

Filter

Cancel
Date Panel Item Activity
4 actions
Autism v0.217 DEAF1 Chirag Patel edited their review of gene: DEAF1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autism v0.217 DEAF1 Chirag Patel Source Victorian Clinical Genetics Services was removed from DEAF1.
Source Expert list was added to DEAF1.
Mode of inheritance for gene DEAF1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DEAF1 were changed from to Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures 617171; Vulto-van Silfout-de Vries syndrome 615828
Publications for gene DEAF1 were changed from 30923367, 24726472 to 30923367, 24726472
Autism v0.216 DEAF1 Chirag Patel reviewed gene: DEAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30923367, 24726472; Phenotypes: Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures 617171, Vulto-van Silfout-de Vries syndrome 615828; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autism v0.0 DEAF1 Zornitza Stark gene: DEAF1 was added
gene: DEAF1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DEAF1 was set to Unknown