Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Mendeliome v0.10740 STT3A Zornitza Stark Phenotypes for gene: STT3A were changed from Congenital disorder of glycosylation, type Iw MIM#615596 to Congenital disorder of glycosylation, type Iw, AR, OMIM #615596; Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714
Mendeliome v0.9570 STT3A Zornitza Stark Marked gene: STT3A as ready
Mendeliome v0.9570 STT3A Zornitza Stark Gene: stt3a has been classified as Green List (High Evidence).
Mendeliome v0.9570 STT3A Zornitza Stark Phenotypes for gene: STT3A were changed from to Congenital disorder of glycosylation, type Iw MIM#615596
Mendeliome v0.9569 STT3A Zornitza Stark Publications for gene: STT3A were set to
Mendeliome v0.9568 STT3A Zornitza Stark Mode of inheritance for gene: STT3A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9565 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
Mendeliome v0.0 STT3A Zornitza Stark gene: STT3A was added
gene: STT3A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STT3A was set to Unknown