Cataracts

Gene: ABHD12

Red List (low evidence)

ABHD12 (abhydrolase domain containing 12)
EnsemblGeneIds (GRCh38): ENSG00000100997
EnsemblGeneIds (GRCh37): ENSG00000100997
OMIM: 613599, Gene2Phenotype
ABHD12 is in 15 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

I don't know

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

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC)
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674
OMIM
613599
Clinvar variants
Variants in ABHD12
Penetrance
Complete
Panels with this gene

History Filter Activity

2 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

2 Jun 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ABHD12 were set to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674

13 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

ABHD12 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

ABHD12 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services