Genomics England
GMS Panels
Panels
Genes and Entities

DLG5

discs large MAGUK scaffold protein 5
OMIM: 604090
PanelMode of inheritanceDetails
1 panel
Green
in Renal ciliopathies
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 3.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
DLG5-associated developmental disorder (monoallelic), DLG5-associated developmental disorder (biallelic)