Structural eye disease
Gene: USH1C

USH1C (USH1 protein network component harmonin)
EnsemblGeneIds (GRCh38): ENSG00000006611
EnsemblGeneIds (GRCh37): ENSG00000006611
OMIM: 605242, Gene2Phenotype
USH1C is in 8 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.48

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

Deafness, autosomal recessive 18A, 602092
Usher syndrome type 1C, 276904
Eye Disorders

OMIM

605242

Clinvar variants

Variants in USH1C

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to USH1C. Mode of inheritance for gene USH1C was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Deafness, autosomal recessive 18A, 602092; Usher syndrome type 1C, 276904 for gene: USH1C

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: USH1C was added gene: USH1C was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: USH1C was set to Phenotypes for gene: USH1C were set to Eye Disorders

Structural eye disease Gene: USH1C