Corneal abnormalities
Gene: SLC4A11

SLC4A11 (solute carrier family 4 member 11)
EnsemblGeneIds (GRCh38): ENSG00000088836
EnsemblGeneIds (GRCh37): ENSG00000088836
OMIM: 610206, Gene2Phenotype
SLC4A11 is in 7 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Expert review green. Multiple cases/families with different variants reported to cause Fuchs endothelial Corneal dystrophy, Corneal endothelial dystrophy and perceptive deafness, Corneal endothelial dystrophy autosomal recessive.
Created: 14 Feb 2017, 1:37 p.m.

Comment on mode of inheritance: Heterozygous cases have been reported for Corneal dystrophy, Fuchs endothelial.
Created: 14 Feb 2017, 1:36 p.m.

Created: 14 Feb 2017, 1:33 p.m.

Panel version: 0.21

Chris Campbell (NHS)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital Hereditary Endothelial Dystrophy

Publications

18024964

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

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
GDL Corneal Abnormalities panel
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Corneal Dystrophy, Recessive
Corneal endothelial dystrophy 2, autosomal recessive, 217700
Congenital Hereditary Endothelial Dystrophy

OMIM

610206

Clinvar variants

Variants in SLC4A11

Penetrance

Complete

Publications

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.

14 Feb 2017, Gel status: 4