Structural eye disease
Gene: ABHD12EnsemblGeneIds (GRCh38): ENSG00000100997
EnsemblGeneIds (GRCh37): ENSG00000100997
OMIM: 613599, Gene2Phenotype
ABHD12 is in 15 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
adult onset cataract and retinal disease but no evidence for structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract ; 612674
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). adult onset cataract and retinal disease but no evidence for structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 612674
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 612674
- Eye Disorders
- OMIM
- 613599
- Clinvar variants
- Variants in ABHD12
- Penetrance
- None
- Panels with this gene
-
- Ataxia and cerebellar anomalies - childhood onset
- Undiagnosed metabolic disorders
- Hereditary ataxia
- Neurodegenerative disorders, adult onset
- Likely inborn error of metabolism
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Monogenic hearing loss
- Hereditary neuropathy
- Bilateral congenital or childhood onset cataracts
- Structural eye disease
- Hereditary ataxia, adult onset
- Glaucoma (developmental)
- Retinal disorders
- Hereditary neuropathy or pain disorder
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to ABHD12. Mode of inheritance for gene ABHD12 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 612674 for gene: ABHD12
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ABHD12 was added gene: ABHD12 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: ABHD12 was set to Phenotypes for gene: ABHD12 were set to Eye Disorders