Skeletal dysplasia
Gene: USH1C

USH1C (USH1 protein network component harmonin)
EnsemblGeneIds (GRCh38): ENSG00000006611
EnsemblGeneIds (GRCh37): ENSG00000006611
OMIM: 605242, Gene2Phenotype
USH1C is in 10 panels

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

?Non-syndromic hearing loss: 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: 21 Mar 2022, 5:52 a.m. | Last Modified: 21 Mar 2022, 5:52 a.m.

Panel Version: 0.11674

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

Created: 21 Mar 2022, 5:52 a.m.
Last Modified: 21 Mar 2022, 5:52 a.m.
Panel version: Imported from Mendeliome panel version 0.11674

Details

Sources

Emory Genetics Laboratory

OMIM

605242

Clinvar variants

Variants in USH1C

Penetrance

None

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: USH1C was added gene: USH1C was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory Mode of inheritance for gene: USH1C was set to

Skeletal dysplasia Gene: USH1C