Deafness_IsolatedAndComplex
Gene: USH1C
PMID: 31858762 - Single family reported but the missense variant (p.G223C) segregated perfectly in 13 relatives. Supported by functional studies, dominant negative is a suggested mechanism. Fig 2C provides evidence of heterodimerization with wildtype protein.
The association with Usher syndrome is well established, multiple families reported. DEFINITIVE by ClinGen. The association with isolated deafness rated as LIMITED by ClinGen, low number of families with P/LP variants.Created: 27 Oct 2020, 10:51 p.m. | Last Modified: 27 Oct 2020, 10:51 p.m.
Panel Version: 1.10
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Usher syndrome, type 1C, MIM# 276904; Deafness, autosomal recessive 18A, MIM# 602092; ?Non-syndromic hearing loss
Publications
The association with Usher syndrome is well established, multiple families reported. DEFINITIVE by ClinGen. The association with isolated deafness rated as LIMITED by ClinGen, low number of families with P/LP variants.Created: 3 Oct 2020, 2:42 a.m. | Last Modified: 3 Oct 2020, 2:42 a.m.
Panel Version: 0.565
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Usher syndrome, type 1C, MIM# 276904; Deafness, autosomal recessive 18A, MIM# 602092
Publications
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
Publications for gene: USH1C were set to 10973247; 10973248; 11239869; 21203349; 12107438
Mode of inheritance for gene: USH1C was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: ush1c has been classified as Green List (High Evidence).
Phenotypes for gene: USH1C were changed from to Usher syndrome, type 1C, MIM# 276904; Deafness, autosomal recessive 18A, MIM# 602092
Publications for gene: USH1C were set to
Mode of inheritance for gene: USH1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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