Bilateral congenital or childhood onset cataracts
Gene: ABHD12The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 9:09 a.m. | Last Modified: 8 Mar 2022, 9:09 a.m.
Panel Version: 2.98
Comment on list classification: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association; however, the GMS specialist group should review whether this gene should be included in the panel.Created: 16 Dec 2020, 2:32 p.m. | Last Modified: 16 Dec 2020, 2:32 p.m.
Panel Version: 2.45
Two siblings each from two families with homozygous nonsense and PHARC syndrome and early onset cataract, and a complex homozygous nonsense variant in an adult with early onset cataract have been reported recently in addition to original variants described in 11 families.Created: 7 Jul 2020, 5:41 a.m. | Last Modified: 7 Jul 2020, 5:41 a.m.
Panel Version: 2.6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674
Publications
Variants in this GENE are reported as part of current diagnostic practice
Lens opacities only occur in some, primarily older patients. Mutations described in 11 families from 4 different countries (Fiskerstrand et al (2010) Am j Hum Genet 87:410-417)Created: 2 Jun 2016, 1:20 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: From expert review, does not seem to be compelling evidence to make this gene green on this panel.Created: 2 Jun 2016, 1:23 p.m.
Is not found in G2P with association with a phenotype. Associated with Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract in OMIM.Created: 25 Apr 2016, 8:54 a.m.
Not on the Manchester congenital cataracts panel.Created: 22 Apr 2016, 4:44 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tag for-review was removed from gene: ABHD12.
Source Expert Review Green was added to ABHD12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: abhd12 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: ABHD12.
Publications for gene: ABHD12 were set to
Phenotypes for gene: ABHD12 were changed from Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, OMIM:612674; PHARC syndrome, MONDO:0012984
This gene has been classified as Red List (Low Evidence).
Phenotypes for ABHD12 were set to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674
This gene has been classified as Red List (Low Evidence).
ABHD12 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen
ABHD12 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services