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  3. GRXCR1
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Deafness_IsolatedAndComplex

Gene: GRXCR1

Green List (high evidence)
GRXCR1 (glutaredoxin and cysteine rich domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000215203
EnsemblGeneIds (GRCh37): ENSG00000215203
OMIM: 613283, Gene2Phenotype
GRXCR1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 families reported, mouse model. DEFINITIVE by ClinGen.
Created: 29 Sep 2020, 11:30 p.m. | Last Modified: 29 Sep 2020, 11:30 p.m.
Panel Version: 0.479

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 25, MIM# 613285

Publications

Created: 29 Sep 2020, 11:30 p.m.
Last Modified: 29 Sep 2020, 11:30 p.m.
Panel version: 0.479

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 25, MIM# 613285
OMIM
613283
Clinvar variants
Variants in GRXCR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: grxcr1 has been classified as Green List (High Evidence).

29 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GRXCR1 were changed from to Deafness, autosomal recessive 25, MIM# 613285

29 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GRXCR1 were set to

29 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GRXCR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GRXCR1 was added gene: GRXCR1 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: GRXCR1 was set to Unknown