Bilateral congenital or childhood onset cataracts

Gene: ABHD12

The 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

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

• 32077159
• 29571850
• 28448692
• 24697911

Variants in this GENE are reported as part of current diagnostic practice

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

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