Deafness_IsolatedAndComplex
Gene: USH1C

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

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

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

Created: 27 Oct 2020, 10:51 p.m.
Last Modified: 27 Oct 2020, 10:51 p.m.
Panel version: 1.10

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 3 Oct 2020, 2:42 a.m.
Last Modified: 3 Oct 2020, 2:42 a.m.
Panel version: 0.565

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Usher syndrome, type 1C, MIM# 276904
Deafness, autosomal recessive 18A, MIM# 602092
Deafness, autosomal dominant

OMIM

605242

Clinvar variants

Variants in USH1C

Penetrance

None

Publications

Panels with this gene