PSMB1

proteasome subunit beta 1
OMIM: 602017, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber PSMB1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual disability
  • microcephaly

Amber PSMB1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual disability
  • microcephaly