SMARCA2

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
OMIM: 600014, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red SMARCA2 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 10.1
Latest signed off version: v10.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    Phenotypes
    • Coffin Siris syndrome
    Green SMARCA2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NICOLAIDES-BARAITSER SYNDROME
    • COFFIN SIRIS
    Green SMARCA2 in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SMARCA2-related Nicolaides-Baraitser syndrome, OMIM:601358
    Green SMARCA2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.57
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Nicolaides-Baraitser syndrome 601358
    Green SMARCA2 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.1
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Nicolaides-Baraitser syndrome, OMIM:601358
    • Coffin-siris syndrome
    • Blepharophimosis intellectual disability syndrome