Activity

Filter

Cancel
Date Panel Item Activity
11 actions
Callosome v0.186 B3GNT2 Zornitza Stark changed review comment from: Gene previously known as B3GNT1. Two families reported. The brain phenotype in one of the families was anencephaly, and CC abnormalities not mentioned in the other.; to: Gene previously known as B3GNT1. Two families reported. The brain phenotype in one of the families was anencephaly, and CC abnormalities observed in only one of four affected sibs in the other family.
Callosome v0.186 B3GNT2 Zornitza Stark Phenotypes for gene: B3GNT2 were changed from to Muscular dystrophy-dystroglycanopathy
Callosome v0.185 B3GNT2 Zornitza Stark Publications for gene: B3GNT2 were set to
Callosome v0.184 B3GNT2 Zornitza Stark Mode of inheritance for gene: B3GNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.183 B3GNT2 Zornitza Stark edited their review of gene: B3GNT2: Added comment: Gene previously known as B3GNT1. Two families reported. The brain phenotype in one of the families was anencephaly, and CC abnormalities not mentioned in the other.; Changed publications: 23359570, 23877401; Changed phenotypes: Muscular dystrophy-dystroglycanopathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.2 B3GNT2 Zornitza Stark Marked gene: B3GNT2 as ready
Callosome v0.2 B3GNT2 Zornitza Stark Gene: b3gnt2 has been classified as Red List (Low Evidence).
Callosome v0.2 B3GNT2 Zornitza Stark Classified gene: B3GNT2 as Red List (low evidence)
Callosome v0.2 B3GNT2 Zornitza Stark Gene: b3gnt2 has been classified as Red List (Low Evidence).
Callosome v0.1 B3GNT2 Zornitza Stark reviewed gene: B3GNT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Callosome v0.0 B3GNT2 Zornitza Stark gene: B3GNT2 was added
gene: B3GNT2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: B3GNT2 was set to Unknown