Activity

Filter

Cancel
Date Panel Item Activity
12 actions
Congenital Disorders of Glycosylation v1.23 STT3A Zornitza Stark Phenotypes for gene: STT3A were changed from Congenital disorder of glycosylation, type Iw; OMIM #615596 to Congenital disorder of glycosylation, type Iw, AR, OMIM #615596; Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714
Congenital Disorders of Glycosylation v1.22 STT3A Zornitza Stark edited their review of gene: STT3A: Changed phenotypes: Congenital disorder of glycosylation, type Iw, AR, OMIM #615596, Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714
Congenital Disorders of Glycosylation v1.22 STT3A Zornitza Stark Publications for gene: STT3A were set to 23842455; 30701557; 28424003
Congenital Disorders of Glycosylation v1.21 STT3A Zornitza Stark Mode of inheritance for gene: STT3A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v1.20 STT3A Elena Savva reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34653363, 23842455, 30701557, 28424003; Phenotypes: Congenital disorder of glycosylation, type Iw MIM#615596; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.3 STT3A Zornitza Stark Marked gene: STT3A as ready
Congenital Disorders of Glycosylation v0.3 STT3A Zornitza Stark Gene: stt3a has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.3 STT3A Zornitza Stark Phenotypes for gene: STT3A were changed from to Congenital disorder of glycosylation, type Iw; OMIM #615596
Congenital Disorders of Glycosylation v0.2 STT3A Zornitza Stark Publications for gene: STT3A were set to
Congenital Disorders of Glycosylation v0.1 STT3A Zornitza Stark Mode of inheritance for gene: STT3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.0 STT3A Zornitza Stark reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23842455, 30701557, 28424003; Phenotypes: Congenital disorder of glycosylation, type Iw, OMIM #615596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.0 STT3A Zornitza Stark gene: STT3A was added
gene: STT3A was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STT3A was set to Unknown