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Prepair 1000+

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

1 review

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.

This gene is also associated with non-syndromic hearing loss.

HGNC approved symbol/name: USH1C
Is the phenotype(s) severe and onset <18yo? Y
Known technical challenges? N
Gene reported in >3 independent families
Created: 7 Feb 2025, 4:59 a.m. | Last Modified: 7 Feb 2025, 4:59 a.m.
Panel Version: 1.1460

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Usher syndrome, type 1C MIM# 276904, MONDO:0010171

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Usher syndrome, type 1C MIM# 276904, MONDO:0010171
OMIM
605242
Clinvar variants
Variants in USH1C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2025, 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).

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: USH1C were changed from Usher syndrome, type 1C, 276904 (3) to Usher syndrome, type 1C MIM# 276904, MONDO:0010171

7 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: USH1C were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Usher syndrome, type 1C, 276904 (3) for gene: USH1C

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: USH1C was added gene: USH1C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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 (3)