Activity

Filter

Cancel
Date Panel Item Activity
11 actions
Deafness_IsolatedAndComplex v1.13 USH1C Zornitza Stark Phenotypes for gene: USH1C were changed from Usher syndrome, type 1C, MIM# 276904; Deafness, autosomal recessive 18A, MIM# 602092 to Usher syndrome, type 1C, MIM# 276904; Deafness, autosomal recessive 18A, MIM# 602092; Deafness, autosomal dominant
Deafness_IsolatedAndComplex v1.12 USH1C Zornitza Stark Publications for gene: USH1C were set to 10973247; 10973248; 11239869; 21203349; 12107438
Deafness_IsolatedAndComplex v1.11 USH1C Zornitza Stark Mode of inheritance for gene: USH1C was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.10 USH1C Elena Savva reviewed gene: USH1C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31858762, 10973247, 10973248, 11239869, 21203349, 12107438; Phenotypes: Usher syndrome, type 1C, MIM# 276904, Deafness, autosomal recessive 18A, MIM# 602092, ?Non-syndromic hearing loss; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.568 USH1C Zornitza Stark Marked gene: USH1C as ready
Deafness_IsolatedAndComplex v0.568 USH1C Zornitza Stark Gene: ush1c has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.568 USH1C Zornitza Stark Phenotypes for gene: USH1C were changed from to Usher syndrome, type 1C, MIM# 276904; Deafness, autosomal recessive 18A, MIM# 602092
Deafness_IsolatedAndComplex v0.567 USH1C Zornitza Stark Publications for gene: USH1C were set to
Deafness_IsolatedAndComplex v0.566 USH1C Zornitza Stark Mode of inheritance for gene: USH1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.565 USH1C Zornitza Stark reviewed gene: USH1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 10973247, 10973248, 11239869, 21203349, 12107438; Phenotypes: Usher syndrome, type 1C, MIM# 276904, Deafness, autosomal recessive 18A, MIM# 602092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.0 USH1C Zornitza Stark gene: USH1C was added
gene: USH1C 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: USH1C was set to Unknown