Ataxia and cerebellar anomalies - childhood onset
Gene: ABHD12
ABHD12 (abhydrolase domain containing 12)
EnsemblGeneIds (GRCh38): ENSG00000100997
EnsemblGeneIds (GRCh37): ENSG00000100997
OMIM: 613599, Gene2Phenotype
ABHD12 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000100997
EnsemblGeneIds (GRCh37): ENSG00000100997
OMIM: 613599, Gene2Phenotype
ABHD12 is in 15 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC)
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
- OMIM
- 613599
- Clinvar variants
- Variants in ABHD12
- Penetrance
- None
- Panels with this gene
-
- Hereditary neuropathy or pain disorder
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Undiagnosed metabolic disorders
- Intellectual disability
- Hereditary ataxia
- Ataxia and cerebellar anomalies - childhood onset
- Structural eye disease
- Monogenic hearing loss
- Retinal disorders
- Hereditary neuropathy
- Hereditary ataxia, adult onset
- Neurodegenerative disorders, adult onset
- Bilateral congenital or childhood onset cataracts
- Glaucoma (developmental)
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ABHD12 was added gene: ABHD12 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABHD12 were set to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract