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  3. USH1G
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Deafness_Isolated

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, DEFINITIVE by ClinGen.
Created: 3 Oct 2020, 2:26 a.m. | Last Modified: 3 Oct 2020, 2:26 a.m.
Panel Version: 0.563

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Usher syndrome, type 1G, MIM# 606943

Created: 3 Oct 2020, 2:26 a.m.
Last Modified: 3 Oct 2020, 2:26 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.563

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Usher syndrome, type 1G, MIM# 606943
OMIM
607696
Clinvar variants
Variants in USH1G
Penetrance
None
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ush1g 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: USH1G were changed from to Usher syndrome, type 1G, MIM# 606943

3 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: USH1G was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

21 Jul 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: USH1G was added gene: USH1G was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: USH1G was set to Unknown