PSMC1

proteasome 26S subunit, ATPase 1
OMIM: 602706, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red PSMC1 in Mendeliome


Version 1.3512

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Birk-Aharoni syndrome MIM# 620071

Red PSMC1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.410

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Birk-Aharoni syndrome MIM# 620071