Genomics England
GMS Panels
Panels
Genes and Entities

PSMD12

proteasome 26S subunit, non-ATPase 12
OMIM: 604450
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Stankiewicz-Isidor syndrome, 617516, Syndromic Neurodevelopmental Disorder