Corneal abnormalitiesGene: SLC4A11
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Congenital Hereditary Endothelial Dystrophy
Variants in this GENE are reported as part of current diagnostic practice
09/03/2017 Revised and approved to Version 1.0 after expert and internal review.
Mode of inheritance for SLC4A11 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Publications for SLC4A11 were set to 16825429; 18024964;16767101
Phenotypes for SLC4A11 were set to Corneal Dystrophy, Recessive; Corneal endothelial dystrophy 2, autosomal recessive, 217700;Congenital Hereditary Endothelial Dystrophy
Publications for SLC4A11 were set to 16825429;18024964
SLC4A11 was added to Corneal abnormalitiespanel. Source: GDL Corneal Abnormalities panel
SLC4A11 was added to Corneal abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen
SLC4A11 was added to Corneal abnormalitiespanel. Sources: Illumina TruGenome Clinical Sequencing Services