Structural eye disease
Gene: SLC16A12

SLC16A12 (solute carrier family 16 member 12)
EnsemblGeneIds (GRCh38): ENSG00000152779
EnsemblGeneIds (GRCh37): ENSG00000152779
OMIM: 611910, Gene2Phenotype
SLC16A12 is in 3 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

I don't know

FC - 1 nonsense mutation in this gene segregating with a phenotype including cataract and microcornea (PMID: 18304496). In mouse, this mutation impairs protein trafficking, but does not lead to cataracts/microcornea (PMID: 21778275)
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cataract, juvenile, with microcornea and glucosuria; 612018

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). FC - 1 nonsense mutation in this gene segregating with a phenotype including cataract and microcornea (PMID: 18304496). In mouse, this mutation impairs protein trafficking, but does not lead to cataracts/microcornea (PMID: 21778275)
Created: 17 Apr 2019, 3:31 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cataract, juvenile, with microcornea and glucosuria; 612018

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

Created: 17 Apr 2019, 3:31 p.m.

Panel version: 0.49

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
NHS GMS

Phenotypes

Cataract, juvenile, with microcornea and glucosuria, 612018

OMIM

611910

Clinvar variants

Variants in SLC16A12

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: SLC16A12 was added gene: SLC16A12 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: SLC16A12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC16A12 were set to Cataract, juvenile, with microcornea and glucosuria, 612018

Structural eye disease Gene: SLC16A12