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Prepair 500+

Gene: USH1G

Green List (high evidence)

USH1G (USH1 protein network component sans)
EnsemblGeneIds (GRCh38): ENSG00000182040
EnsemblGeneIds (GRCh37): ENSG00000182040
OMIM: 607696, Gene2Phenotype
USH1G is in 10 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Usher syndrome type I (USH1) is characterised by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and retinitis pigmentosa (RP).

The onset of RP in individuals with USH1 is variable but can start in early infancy or childhood. RP is progressive.

Some pathogenic variants in the USH1G gene have been shown to cause a relatively mild form of Usher syndrome (GeneReviews PMID: 20301442).
Created: 3 Apr 2025, 12:56 a.m. | Last Modified: 3 Apr 2025, 12:56 a.m.
Panel Version: 1.1822

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Usher syndrome, type 1G MIM#606943

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Usher syndrome, type 1G MIM#606943
OMIM
607696
Clinvar variants
Variants in USH1G
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 May 2025, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: ush1g has been classified as Green List (High Evidence).

25 May 2025, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: USH1G were changed from Usher syndrome, type 1G, 606943 (3) to Usher syndrome, type 1G MIM#606943

25 May 2025, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: USH1G were set to

3 Nov 2023, Gel status: 3

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

Seb Lunke (Victorian Clinical Genetics Services)

gene: USH1G was added gene: USH1G was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: USH1G was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: USH1G were set to Usher syndrome, type 1G, 606943 (3)