Corneal dystrophies

Gene: SLC4A11

Green List (high evidence)

SLC4A11 (solute carrier family 4 member 11)
EnsemblGeneIds (GRCh38): ENSG00000088836
EnsemblGeneIds (GRCh37): ENSG00000088836
OMIM: 610206, Gene2Phenotype
SLC4A11 is in 8 panels

1 review

Morag Shanks (Oxford Medical Genetics laboratory)

Green List (high evidence)

Manchester panel
Created: 1 Apr 2019, 2:30 p.m.

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 4 613268
  • Corneal endothelial dystrophy and perceptive deafness 217400
  • Corneal endothelial dystrophy, autosomal recessive 217700
OMIM
610206
Clinvar variants
Variants in SLC4A11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: SLC4A11 was added gene: SLC4A11 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green Mode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC4A11 were set to 16767101; 16825429 Phenotypes for gene: SLC4A11 were set to Corneal dystrophy, Fuchs endothelial, 4 613268; Corneal endothelial dystrophy and perceptive deafness 217400; Corneal endothelial dystrophy, autosomal recessive 217700