Genomics England
GMS Panels
Panels
Genes and Entities

SLC12A9

solute carrier family 12 member 9
OMIM: 616861
PanelMode of inheritanceDetails
1 panel
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects