DLG5

discs large MAGUK scaffold protein 5
OMIM: 604090
PanelMode of inheritanceDetails
2 panels
R-numbers: R21, R412
Signed-off version 5.80
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Yuksel-Vogel-Bauser syndrome, OMIM:620703
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
  • - Unexplained young onset end-stage renal disease
Signed-off version 3.18
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Yuksel-Vogel-Bauser syndrome, OMIM:620703