SMARCA1

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
OMIM: 300012, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Red SMARCA1 in Mendeliome


Version 1.1902

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual disability