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  3. USH1C
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Usher Syndrome

Gene: USH1C

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

2 reviews

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: Imported from Deafness_IsolatedAndComplex panel version 0.565

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 18A, 602092; Usher syndrome, type 1C, 276904

Created: 11 Mar 2020, 3:46 a.m.
Last Modified: 11 Mar 2020, 3:46 a.m.
Panel version: 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Usher syndrome, type 1C, 276904
OMIM
605242
Clinvar variants
Variants in USH1C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: USH1C were set to

11 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ush1c has been classified as Green List (High Evidence).

14 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: USH1C was added gene: USH1C was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: USH1C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: USH1C were set to Usher syndrome, type 1C, 276904