Genomics England
GMS Panels
Panels
Genes and Entities

SLC13A1

solute carrier family 13 member 1
OMIM: 606193
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SLC13A1-associated hypersulfaturia and hyposulfatemia
Green
in Monogenic short stature
R-numbers: R453
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
impaired sulfate transport and skeletal dysplasia
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
impaired sulfate transport and skeletal dysplasia