Bilateral congenital or childhood onset cataracts

Gene: SLC16A12

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 gene-disease association. This gene should be rated Green at the next review.

Created: 16 Dec 2020, 2 p.m. | Last Modified: 16 Dec 2020, 2 p.m.

Panel Version: 2.41

Comment on publications: This was originally in the Publications section:
Kloeckener-Gruissem et al (2008) Am J Hum Genet 82:772-779 - a nonsense variant in SLC16A12 was identified in a Swiss family with autosomal dominant juvenile cataract, microcornea, and renal glucosuria. High SLC16A12 transcript expression levels in the eye and kidney was observed (PMID: 18304496);
Functional study: Castorino et al (2011) IOVS 52:6774 PMID: 21778275 - reports the variant causes a defect in protein trafficking;
A 5'UTR SNP was identified in one patient with age-related cataract, and caused increased expression in luciferase assays PMID: 20181839

Created: 16 Dec 2020, 1:45 p.m. | Last Modified: 16 Dec 2020, 1:45 p.m.

Panel Version: 2.40

Green List (high evidence)

Another 15 individuals reported as part of a cohort study, some of the variants had functional studies.

Created: 7 Jul 2020, 3:01 a.m. | Last Modified: 7 Jul 2020, 3:01 a.m.

Panel Version: 2.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cataract 47, juvenile, with microcornea, MIM# 612018

Publications

• 29088427

I don't know

Functional study: Castorino et al (2011) IOVS 52:6774

Created: 25 May 2016, 8:11 a.m.

Phenotypes
Cataract, juvenile, with microcornea and glucosuria, 612018

Publications

• Kloeckener-Gruissem et al (2008) Am J Hum Genet 82:772-779

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

I don't know

Comment on list classification: Currently not enough evidence for this gene to be red - one family reported.

Created: 6 Jun 2016, 8:28 a.m.

Comment on mode of pathogenicity: SLC16A12 transcript expression was reported to be increased in the eye and kidney in a Swiss family with autosomal dominant juvenile cataract, microcornea, and renal glucosuria.

Created: 6 Jun 2016, 8:28 a.m.

Is on the Manchester congenital cataracts gene panel. Not found associated with a disease in G2P. Associated with Cataract, juvenile, with microcornea and glucosuria in OMIM. One family report in OMIM.

Created: 28 Apr 2016, 11:19 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown