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Deafness_IsolatedAndComplex
Gene: GRXCR2

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

2 reviews

Achchuthan Shanmugasundram (Genomics England)

Green List (high evidence)

PMID:33528103 reported another family and an unrelated individual from Cameroon with a different homozygous variant (c.251delC/ p.Ile85SerfsTer33). Hence, this gene can be promoted to green rating.
Created: 26 Jun 2024, 4:08 p.m. | Last Modified: 26 Jun 2024, 4:08 p.m.

Panel Version: 1.186

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

33528103

Created: 26 Jun 2024, 4:08 p.m.
Last Modified: 26 Jun 2024, 4:08 p.m.
Panel version: 1.186

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

24619944

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

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Deafness, autosomal recessive 101, MIM# 615837

OMIM

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).

31 Dec 2019, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GRXCR2 were set to 24619944

31 Dec 2019, 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).

31 Dec 2019, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GRXCR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

31 Dec 2019, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GRXCR2 were set to

31 Dec 2019, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GRXCR2 were changed from to Deafness, autosomal recessive 101, MIM# 615837

31 Dec 2019, 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).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GRXCR2 was added gene: GRXCR2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: GRXCR2 was set to Unknown