Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Deafness_IsolatedAndComplex v0.488 HSD17B4 Zornitza Stark Marked gene: HSD17B4 as ready
Deafness_IsolatedAndComplex v0.488 HSD17B4 Zornitza Stark Gene: hsd17b4 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.488 HSD17B4 Zornitza Stark Phenotypes for gene: HSD17B4 were changed from to Perrault syndrome 1, MIM# 233400
Deafness_IsolatedAndComplex v0.487 HSD17B4 Zornitza Stark Publications for gene: HSD17B4 were set to
Deafness_IsolatedAndComplex v0.486 HSD17B4 Zornitza Stark Mode of inheritance for gene: HSD17B4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.485 HSD17B4 Zornitza Stark reviewed gene: HSD17B4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24553428, 23181892, 20673864; Phenotypes: Perrault syndrome 1, MIM# 233400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.0 HSD17B4 Zornitza Stark gene: HSD17B4 was added
gene: HSD17B4 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: HSD17B4 was set to Unknown