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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
04/07/2012
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Usher syndrome type 1C Monarch
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)