Cataract
Gene: ABHD12EnsemblGeneIds (GRCh38): ENSG00000100997
EnsemblGeneIds (GRCh37): ENSG00000100997
OMIM: 613599, Gene2Phenotype
ABHD12 is in 13 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674
Seb Lunke (Victorian Clinical Genetics Services)
Two siblings each from two families with hom nonsense and PHARC syndrome and early on-set cataract, and a complex homozygous nonsense variant in an adult with early on-set cataract have been descibed recently in addition to original mutations described in 11 families from 4 different countries (Fiskerstrand et al (2010)). Total over 10 independent cases mentioned in literature.
Sources: LiteratureCreated: 7 Jul 2020, 4:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyneuropathy; Hearing loss; Ataxia; Retinitis pigmentosa; Cataracts
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674
- 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
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ABHD12 were changed from Polyneuropathy; Hearing loss; Ataxia; Retinitis pigmentosa; Cataracts to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: abhd12 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: abhd12 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Seb Lunke (Victorian Clinical Genetics Services)gene: ABHD12 was added gene: ABHD12 was added to Cataract. Sources: Literature Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD12 were set to 32077159; 29571850; 28448692; 24697911 Phenotypes for gene: ABHD12 were set to Polyneuropathy; Hearing loss; Ataxia; Retinitis pigmentosa; Cataracts