SMARCA4

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

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green SMARCA4 in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.22

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 Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 2.7
Signed off v.2.5 on 4 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • Expert list
Phenotypes
  • 613325
  • predisposition to small cell ca
  • Ovary with hypercalcemia

Green SMARCA4 in Rhabdoid tumour predisposition


Version 1.4
Signed off v.1.2 on 4 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review

Red SMARCA4 in Autism


Version 0.15

review Not set
Sources
  • Expert Review Red
  • SFARI

Red SMARCA4 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.89

Component of the following Super Panels:

  • Renal superpanel - broad
  • review Unknown
    Sources
    • Expert Review Red
    • Expert list

    Green SMARCA4 in Childhood solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.6

    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 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.3
    Signed off v.2.2 on 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 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.7
    Signed off v.2.2 on 13 Feb 2020

    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 1.58

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review Unknown
    Sources
    • Expert Review Red
    • Expert list

    Red SMARCA4 in Unexplained paediatric onset end-stage renal disease


    Version 1.7
    Signed off v.1.2 on 4 Mar 2020

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review Unknown
    Sources
    • Expert Review Red

    Green SMARCA4 in Fetal anomalies


    Version 1.3
    Signed off v.1.2 on 17 Feb 2020

    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 2.3
    Signed off v.2.2 on 13 Feb 2020

    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 Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.24
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Rhabdoid tumor predisposition syndrome 2, 613325Mental retardation, autosomal dominant 16, 614609
    • COFFIN SIRIS

    Amber SMARCA4 in Sarcoma susceptibility


    Version 1.4
    Signed off v.1.2 on 18 Feb 2020

    review Not set
    Sources
    • NHS GMS
    • Expert Review Amber
    • Expert list
    Phenotypes
    • undifferentiated uterine sarcoma

    Green SMARCA4 in Severe Paediatric Disorders


    Version 1.1

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Coffin-Siris syndrome 4, 614609