Bilateral congenital or childhood onset cataracts
Gene: SLC16A12The 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: 20181839Created: 16 Dec 2020, 1:45 p.m. | Last Modified: 16 Dec 2020, 1:45 p.m.
Panel Version: 2.40
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
Functional study: Castorino et al (2011) IOVS 52:6774Created: 25 May 2016, 8:11 a.m.
Phenotypes
Cataract, juvenile, with microcornea and glucosuria, 612018
Publications
Variants in this GENE are reported as part of current diagnostic practice
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
Tag for-review was removed from gene: SLC16A12.
Source Expert Review Green was added to SLC16A12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: SLC16A12.
Gene: slc16a12 has been classified as Amber List (Moderate Evidence).
Publications for gene: SLC16A12 were set to 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; 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
Phenotypes for gene: SLC16A12 were changed from Cataract, juvenile, with microcornea and glucosuria, 612018 to Cataract 47, juvenile, with microcornea, OMIM:612018; juvenile cataract-microcornea-renal glucosuria syndrome, MONDO:0012786
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for SLC16A12 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Red List (Low Evidence).
Mode of pathogenicity for SLC16A12 was changed to Other - please provide details in the comments
Publications for SLC16A12 were set to 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; 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
Publications for SLC16A12 were set to 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; Functional study: Castorino et al (2011) IOVS 52:6774 PMID: 21778275; A 5'UTR SNP was identified in one patient with age-related cataract, and caused increased expression in luciferase assays PMID: 20181839
Publications for SLC16A12 were set to Kloeckener-Gruissem et al (2008) Am J Hum Genet 82:772-779; Functional study: Castorino et al (2011) IOVS 52:6774 PMID: 21778275
SLC16A12 was added to Cataractspanel. Sources: UKGTN
SLC16A12 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen