PanelApp
  1. Genes and Genomic Entities
  2. SMARCB1

SMARCB1

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
OMIM: 601607, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Amber SMARCB1 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.400

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Coffin-Siris syndrome 3, MIM# 614608

Green SMARCB1 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.474

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green SMARCB1 in Hypertrichosis syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.46

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green SMARCB1 in Mendeliome


Version 1.3519

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Coffin-Siris syndrome 3, MIM# 614608

Green SMARCB1 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.132

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green SMARCB1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Coffin-Siris syndrome 3, MIM# 614608
    • Epilepsy

    Green SMARCB1 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.565

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green SMARCB1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Coffin-Siris syndrome 3 (MIM# 614608)
    • MONDO:0015452

    Green SMARCB1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Coffin-Siris syndrome 3, MIM# 614608

    Amber SMARCB1 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.278

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Coffin-Siris syndrome 3, OMIM:614608

    Green SMARCB1 in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.78

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Coffin-Siris syndrome 3 MIM#614608

    Green SMARCB1 in Fetal anomalies


    Version 1.465

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Coffin-Siris syndrome 3, OMIM #614608

    Green SMARCB1 in Meningioma


    Level 2: Cancer predisposition
    Version 1.1

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Meningioma, MONDO:0016642
    • Rhabdoid tumor predisposition syndrome 1, MONDO:0012252
    • Rhabdoid tumor predisposition syndrome 1, MIM#609322
    • Schwannomatosis, susceptibility to, 1, MIM#162091

    Green SMARCB1 in Schwannoma


    Level 2: Cancer Predisposition
    Version 1.1

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Schwannoma, MONDO:0002546
    • Schwannomatosis 1, MONDO:0024517
    • Rhabdoid tumor predisposition syndrome 1, MONDO:0012252
    • Rhabdoid tumor predisposition syndrome 1, MIM#609322
    • Schwannomatosis, susceptibility to, 1, MIM#162091

    Green SMARCB1 in Sarcoma soft tissue


    Level 2: Cancer Predisposition
    Version 1.0

    		1 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 1, MONDO:0012252
    • Rhabdoid tumor predisposition syndrome 1, MIM#609322