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Deafness_IsolatedAndComplex

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

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

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

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

History Filter Activity

28 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: USH1C were changed from Usher syndrome, type 1C, MIM# 276904; Deafness, autosomal recessive 18A, MIM# 602092 to Usher syndrome, type 1C, MIM# 276904; Deafness, autosomal recessive 18A, MIM# 602092; Deafness, autosomal dominant

28 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: USH1C were set to 10973247; 10973248; 11239869; 21203349; 12107438

28 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: USH1C was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

3 Oct 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).

3 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: USH1C were changed from to Usher syndrome, type 1C, MIM# 276904; Deafness, autosomal recessive 18A, MIM# 602092

3 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: USH1C were set to

3 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: USH1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

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 Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: USH1C was set to Unknown