Auditory Neuropathy
Gene: ABHD12EnsemblGeneIds (GRCh38): ENSG00000100997
EnsemblGeneIds (GRCh37): ENSG00000100997
OMIM: 613599, Gene2Phenotype
ABHD12 is in 13 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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: LiteratureCreated: 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674
- Syndromic auditory neuropathy spectrum disorder
- OMIM
- 613599
- Clinvar variants
- Variants in ABHD12
- Penetrance
- None
- Publications
- Panels with this gene
-
- Retinitis pigmentosa_Autosomal Recessive/X-linked
- Deafness_IsolatedAndComplex
- Regression
- Miscellaneous Metabolic Disorders
- Hereditary Neuropathy - complex
- Ataxia - adult onset
- Mendeliome
- BabyScreen+ newborn screening
- Cataract
- Usher Syndrome
- Syndromic Retinopathy
- Ataxia - paediatric
- Auditory Neuropathy
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: abhd12 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ABHD12 was added gene: ABHD12 was added to Auditory Neuropathy. Sources: Literature Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD12 were set to 31393079 Phenotypes for gene: ABHD12 were set to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674; Syndromic auditory neuropathy spectrum disorder Review for gene: ABHD12 was set to AMBER