Genomics England
GMS Panels
Panels
Genes and Entities

SLC4A11

solute carrier family 4 member 11
OMIM: 610206
PanelMode of inheritanceDetails
3 panels
Green
in Corneal dystrophy
R-numbers: R262
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Corneal dystrophy, Fuchs endothelial, 4 613268, Corneal endothelial dystrophy and perceptive deafness 217400, Corneal endothelial dystrophy, autosomal recessive 217700
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 613268
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#217400:Corneal endothelial dystrophy and perceptive deafness, #217700:Corneal endothelial dystrophy 2, autosomal recessive