Retinal disorders
Gene: ABHD12EnsemblGeneIds (GRCh38): ENSG00000100997
EnsemblGeneIds (GRCh37): ENSG00000100997
OMIM: 613599, Gene2Phenotype
ABHD12 is in 15 panels
3 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.Created: 2 Jun 2016, 8:03 a.m.
Comment on mode of inheritance: Confirmed on OMIM.Created: 15 Mar 2016, 10:33 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Eye Disorders
- Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC)
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857
- OMIM
- 613599
- Clinvar variants
- Variants in ABHD12
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary neuropathy
- Intellectual disability
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Structural eye disease
- Monogenic hearing loss
- Hereditary ataxia
- Hereditary neuropathy or pain disorder
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to ABHD12. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ABHD12 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)ABHD12 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)ABHD12 was created by ellenmcdonagh