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Cataracts

Gene: SLC16A12

Amber List (moderate evidence)

SLC16A12 (solute carrier family 16 member 12)
EnsemblGeneIds (GRCh38): ENSG00000152779
EnsemblGeneIds (GRCh37): ENSG00000152779
OMIM: 611910, Gene2Phenotype
SLC16A12 is in 4 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 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

Zornitza Stark (Australian Genomics)

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

Sarah Waller (Manchester Centre for Genomic Medicine)

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

Ellen McDonagh (Genomics England Curator)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cataract 47, juvenile, with microcornea, OMIM:612018
  • juvenile cataract-microcornea-renal glucosuria syndrome, MONDO:0012786
Tags
for-review
OMIM
611910
Clinvar variants
Variants in SLC16A12
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

21 Jan 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: SLC16A12.

16 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: slc16a12 has been classified as Amber List (Moderate Evidence).

16 Dec 2020, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

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

16 Dec 2020, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

6 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).

6 Jun 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SLC16A12 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

6 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).

6 Jun 2016, Gel status: 2

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for SLC16A12 was changed to Other - please provide details in the comments

6 Jun 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

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

6 Jun 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

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

6 Jun 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

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

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

SLC16A12 was added to Cataractspanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SLC16A12 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen