SMARCA1

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber SMARCA1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.31
Latest signed off version: v8.0 (12 Aug 2026)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Green SMARCA1 in Intellectual disability


Level 2: Developmental disorders
Version 11.93
Latest signed off version: v11.0 (12 Aug 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • 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 Green
    • NHS GMS
    • Other
    Phenotypes
    • X-linked intellectual disability, MONDO:0100284
    Tags
    • gene-checked