PSMC1

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red PSMC1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss , MIM# 620071

Red PSMC1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss , MIM# 620071