USH1C
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
USH1C (HGNC:12597) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
USH1 protein network component harmonin
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DFNB18
Alias symbols
PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C
%HI
22.32(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.88(Read more about gnomAD LOEUF score)
Cytoband
11p15.1
Genomic Coordinates
GRCh37/hg19: chr11:17515447-17565963 NCBI Ensembl UCSC
GRCh38/hg38: chr11:17493900-17544416 NCBI Ensembl UCSC
MANE Select Transcript
NM_153676.4 ENST00000005226.12 (Read more about MANE Select)
MANE Plus Clinical Transcript(s)
NM_005709.4 ENST00000318024.9 (Read more about MANE Plus Clinical)
Function
Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal development and maintenance of cochlear hair cell bundles (By similarity). As part of the intermicrovillar adhesion complex/IMAC plays a role in brush border differentiation, controlling microvilli organization and length. Probably plays a central regulatory role in the assembly of the complex, recruiting CDHR... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-633
ClinGen Curation ID:
CCID:008086
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
04/07/2012

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Mutations in USH1C are associated with autosomal recessive nonsyndrome sensorineural hearing loss, DFNB18 (OMIM 602092), and autosomal recessive Usher syndrome, type 1C. There is one report of two consanguinous families with children with Usher syndrome and enteropathy due to homozygous deletions including USH1C and neighboring genes (Bitner-Glindzicz, 2000, PMID: 10973248). Furthermore, the overall evidence that USH1C, when altered has been causes Usher syndrome has been expert reviewed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)