Deafness_IsolatedAndComplex
Gene: ABHD12

ABHD12 (abhydrolase domain containing 12)
EnsemblGeneIds (GRCh38): ENSG00000100997
EnsemblGeneIds (GRCh37): ENSG00000100997
OMIM: 613599, Gene2Phenotype
ABHD12 is in 13 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Hearing loss is a feature of the condition, However, auditory neuropathy has been confirmed as a feature of the condition in a single case with homozygous truncating variant. Impaired auditory signalling is present in a null mouse model.
Sources: Literature
Created: 13 Nov 2020, 7:56 a.m. | Last Modified: 15 Nov 2020, 11:49 p.m.

Panel Version: 0.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674; Syndromic auditory neuropathy spectrum disorder

Publications

Created: 13 Nov 2020, 7:56 a.m.
Last Modified: 15 Nov 2020, 11:49 p.m.
Panel version: Imported from Auditory Neuropathy panel version 0.24

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated families reported.
Created: 24 Sep 2020, 11:28 a.m. | Last Modified: 24 Sep 2020, 11:28 a.m.

Panel Version: 0.389

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674

Publications

Created: 24 Sep 2020, 11:28 a.m.
Last Modified: 24 Sep 2020, 11:28 a.m.
Panel version: 0.389

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674

OMIM

613599

Clinvar variants

Variants in ABHD12

Penetrance

None

Publications

Panels with this gene