Deafness_Isolated
Gene: DFNA5

DFNA5 (gasdermin E)
EnsemblGeneIds (GRCh38): ENSG00000105928
EnsemblGeneIds (GRCh37): ENSG00000105928
OMIM: 608798, Gene2Phenotype
DFNA5 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Comment when marking as ready: New HGNC approved name is GSDME
Created: 29 Sep 2020, 12:22 a.m. | Last Modified: 29 Sep 2020, 12:22 a.m.

Panel Version: 0.449

Assessed as DEFINITIVE by ClinGen, over a 150 affected individuals reported, supportive functional data including animal models.
Created: 29 Sep 2020, 12:21 a.m. | Last Modified: 29 Sep 2020, 12:21 a.m.

Panel Version: 0.446

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Deafness, autosomal dominant 5, MIM# 600994

Publications

Created: 29 Sep 2020, 12:21 a.m.
Last Modified: 29 Sep 2020, 12:21 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.446

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Deafness, autosomal dominant 5, MIM# 600994

OMIM

608798

Clinvar variants

Variants in DFNA5

Penetrance

None

Publications

Panels with this gene