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Cataracts

Gene: ABHD12

Amber List (moderate evidence)

ABHD12 (abhydrolase domain containing 12)
EnsemblGeneIds (GRCh38): ENSG00000100997
EnsemblGeneIds (GRCh37): ENSG00000100997
OMIM: 613599, Gene2Phenotype
ABHD12 is in 16 panels

4 reviews

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

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 Amber
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, OMIM:612674
  • PHARC syndrome, MONDO:0012984
Tags
for-review
OMIM
613599
Clinvar variants
Variants in ABHD12
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: abhd12 has been classified as Amber List (Moderate Evidence).

16 Dec 2020, Gel status: 1

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: ABHD12.

16 Dec 2020, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ABHD12 were set to

16 Dec 2020, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

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