Corneal abnormalities
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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Discussed with Chris Campbell and the Manchester GDL group, and should be promoted to green.
Created: 22 Feb 2017, 11:24 a.m.

Created: 22 Feb 2017, 11:24 a.m.

Panel version: 0.173

Chris Campbell (NHS)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cataract with microcornea

Publications

18304496

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

Created: 7 Feb 2017, 5:35 p.m.

Panel version: 0.3

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
GDL Corneal Abnormalities panel
Radboud University Medical Center, Nijmegen

Phenotypes

Cataract, juvenile, with microcornea and glucosuria, 612018

OMIM

611910

Clinvar variants

Variants in SLC16A12

Penetrance

Complete

Publications

18304496

Panels with this gene

History Filter Activity

9 Mar 2017, Gel status: 4

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

22 Feb 2017, Gel status: 4