SMARCA4

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

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Red SMARCA4 in Congenital diaphragmatic hernia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.16

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Coffin-Siris syndrome 4, MIM# 614609

Red SMARCA4 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.389

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Coffin-Siris syndrome 4, MIM#614609

Green SMARCA4 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.430

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green SMARCA4 in Hypertrichosis syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.46

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green SMARCA4 in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Coffin-Siris syndrome 4, MIM# 614609
  • Otosclerosis MONDO:0005349, SMARCA4-related

Green SMARCA4 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.131

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red SMARCA4 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.119

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Red
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • Refractory seizures

    Green SMARCA4 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green SMARCA4 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Coffin-Siris syndrome 4 (MIM# 614609)

    Amber SMARCA4 in Deafness_Isolated


    Level 2: Hearing and ear disorders
    Version 1.67

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Otosclerosis MONDO:0005349, SMARCA4-related

    Green SMARCA4 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.260

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Coffin-Siris syndrome 4, MIM# 614609

    Green SMARCA4 in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.76

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Coffin-Siris syndrome 4 MIM#614609

    Green SMARCA4 in Fetal anomalies


    Version 1.314

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • Coffin-Siris syndrome 4, MIM# 614609

    Red SMARCA4 in Schwannoma


    Level 2: Cancer Predisposition
    Version 1.1

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    • Expert Review
    Phenotypes
    • Schwannoma, MONDO:0002546
    • Rhabdoid tumor predisposition syndrome 2, MONDO:0013224
    • Rhabdoid tumor predisposition syndrome 2, MIM#613325

    Green SMARCA4 in Sarcoma soft tissue


    Level 2: Cancer Predisposition
    Version 1.0

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Soft tissue sarcoma, MONDO:0018078
    • Sarcoma, MONDO:0005089
    • Rhabdoid tumor predisposition syndrome 2, MONDO:0013224
    • Rhabdoid tumor predisposition syndrome 2, MIM#613325

    Amber SMARCA4 in Neuroblastoma


    Level 2: Cancer Predisposition
    Version 1.1

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    • Expert Review
    Phenotypes
    • Neuroblastoma, MONDO:0005072
    • Rhabdoid tumor predisposition syndrome 2, MONDO:0013224
    • Rhabdoid tumor predisposition syndrome 2, MIM#613325