Hereditary ataxia with onset in adulthood
Gene: ABHD12
In Oxford and Sheffield panels. Mutations in this gene are associated with the neurodegenerative disease, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), resulting from an inborn error of endocannabinoid metabolism. Lots of families described on OMIM.Created: 27 Apr 2019, 7:39 p.m.
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Nine families reported in original paperCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract, 612674
Variants in this GENE are reported as part of current diagnostic practice
Source London North GMS was added to ABHD12.
Added phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract, 612674 for gene: ABHD12
Source NHS GMS was added to ABHD12.
Source Wessex and West Midlands GLH was added to ABHD12.
Checked panel against panel constituents. Ready to promote to version 1.
gene: ABHD12 was added gene: ABHD12 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,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; Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC)