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Deafness_Isolated

Gene: GRXCR2

Green List (high evidence)
GRXCR2 (glutaredoxin and cysteine rich domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000204928
EnsemblGeneIds (GRCh37): ENSG00000204928
OMIM: 615762, Gene2Phenotype
GRXCR2 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID:33528103 reported another family and an unrelated individual from Cameroon with a different homozygous variant (c.251delC/ p.Ile85SerfsTer33).
Created: 28 Jun 2024, 10:29 p.m. | Last Modified: 28 Jun 2024, 10:29 p.m.
Panel Version: 1.59

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 101, MIM# 615837

Publications

Created: 28 Jun 2024, 10:29 p.m.
Last Modified: 28 Jun 2024, 10:29 p.m.
Panel version: 1.59

Lilian Downie (Victorian Clinical Genetics Services)

I don't know

Single family with multiple sibs, function studies. 'Moderate' classification from ClinGen expert panel.
Created: 31 Dec 2019, 1:14 a.m. | Last Modified: 31 Dec 2019, 1:15 a.m.
Panel Version: 0.68

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
autosomal recessive sensorineural hearing loss

Publications

Created: 31 Dec 2019, 1:14 a.m.
Last Modified: 31 Dec 2019, 1:15 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.67

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
Phenotypes
  • Deafness, autosomal recessive 101, MIM# 615837
OMIM
615762
Clinvar variants
Variants in GRXCR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jun 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GRXCR2 were set to 24619944

28 Jun 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: grxcr2 has been classified as Green List (High Evidence).

3 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: grxcr2 has been classified as Amber List (Moderate Evidence).

21 Jul 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GRXCR2 was added gene: GRXCR2 was added to DeafnessIsolated. Sources: Expert Review Amber,Melbourne Genomics Health Alliance Deafness Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: GRXCR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRXCR2 were set to 24619944 Phenotypes for gene: GRXCR2 were set to Deafness, autosomal recessive 101, MIM# 615837