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  3. GAS2
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Deafness_Isolated

Gene: GAS2

Amber List (moderate evidence)
GAS2 (growth arrest specific 2)
EnsemblGeneIds (GRCh38): ENSG00000148935
EnsemblGeneIds (GRCh37): ENSG00000148935
OMIM: 602835, Gene2Phenotype
GAS2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family reported with four affected brothers and a splicing variant. Supportive mouse model.
Sources: Literature
Created: 6 Jul 2024, 11:23 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 125, MIM#620877

Publications

Created: 6 Jul 2024, 11:23 p.m.

Panel version: 1.62

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Deafness, autosomal recessive 125, MIM#620877
OMIM
602835
Clinvar variants
Variants in GAS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Jul 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gas2 has been classified as Amber List (Moderate Evidence).

6 Jul 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gas2 has been classified as Amber List (Moderate Evidence).

6 Jul 2024, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GAS2 was added gene: GAS2 was added to Deafness_Isolated. Sources: Literature Mode of inheritance for gene: GAS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAS2 were set to 33964205 Phenotypes for gene: GAS2 were set to Deafness, autosomal recessive 125, MIM#620877 Review for gene: GAS2 was set to AMBER