Deafness_Isolated
Gene: ESPN

ESPN (espin)
EnsemblGeneIds (GRCh38): ENSG00000187017
EnsemblGeneIds (GRCh37): ENSG00000187017
OMIM: 606351, Gene2Phenotype
ESPN is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants: association rated as DEFINITIVE by ClinGen. Over 20 affected individuals reported, mouse model.

Mono-allelic variants: rated as LIMITED by ClinGen. Two individuals reported.
Created: 29 Sep 2020, 10:02 a.m. | Last Modified: 29 Sep 2020, 10:02 a.m.

Panel Version: 0.456

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 36, MIM# 609006; Deafness, neurosensory, without vestibular involvement, autosomal dominant, MIM# 609006

Publications

Created: 29 Sep 2020, 10:02 a.m.
Last Modified: 29 Sep 2020, 10:02 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.456

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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 recessive 36, MIM# 609006
Deafness, neurosensory, without vestibular involvement, autosomal dominant, MIM# 609006

OMIM

606351

Clinvar variants

Variants in ESPN

Penetrance

None

Publications

Panels with this gene