PSMD12

proteasome 26S subunit, non-ATPase 12
OMIM: 604450, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green PSMD12 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Stankiewicz-Isidor syndrome, MIM# 617516

Green PSMD12 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Stankiewicz-Isidor syndrome, MIM# 617516