1. Genes and Genomic Entities
  2. SMARCA4

SMARCA4

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
OMIM: 603254, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels
Green SMARCA4 in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.42

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • predisposition to small cell ca
  • Ovary with hypercalcemia
Green SMARCA4 in Childhood solid tumours


Level 2: Cancer susceptibility
Version 5.9
Latest signed off version: v5.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • Expert list
Phenotypes
  • {Rhabdoid tumor predisposition syndrome 2}, OMIM:613325
  • Rhabdoid tumor predisposition syndrome 2, MONDO:0013224
Green SMARCA4 in Familial rhabdoid tumours


Level 2: Inherited cancer
Version 1.11
Latest signed off version: v1.9 (7 Aug 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review
Phenotypes
  • {Rhabdoid tumor predisposition syndrome 2}, OMIM:613325
  • Rhabdoid tumor predisposition syndrome 2, MONDO:0013224
Red SMARCA4 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.124

review Unknown
Sources
  • Expert list
  • Expert Review Red
Green SMARCA4 in Childhood solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.30

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • predisposition to small cell ca
  • Ovary with hypercalcemia
Green SMARCA4 in Adult solid tumours cancer susceptibility


Level 2: Cancer susceptibility
Version 2.35
Latest signed off version: v2.2 (18 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • predisposition to small cell ca
  • Ovary with hypercalcemia
Red SMARCA4 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.33
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    Phenotypes
    • Coffin Siris syndrome
    Red SMARCA4 in CAKUT

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 1.181

    		review Unknown
    Sources
    • Expert Review Red
    • Expert list
    Green SMARCA4 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.139
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • RHABDOID TUMOR PREDISPOSITION SYNDROME 2
    • COFFIN SIRIS
    Green SMARCA4 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • COFFIN SIRIS 135900
    • RHABDOID TUMOR PREDISPOSITION SYNDROME 2 613325
    Green SMARCA4 in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Coffin-Siris syndrome 4, OMIM:614609
    Green SMARCA4 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Coffin-Siris syndrome 4, OMIM:614609
    Amber SMARCA4 in Sarcoma susceptibility


    Level 2: Cancer susceptibility
    Version 1.82
    Latest signed off version: v1.2 (18 Feb 2020)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Uterine corpus sarcoma, MONDO:0005210
    Red SMARCA4 in Unexplained young onset end-stage renal disease - additional genes


    Level 2: Renal
    Version 1.4
    Latest signed off version: v1.1 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review Unknown
    Sources
    • Expert Review Red