PanelApp (test)
  1. Genes and Genomic Entities
  2. SMARCB1:Ensemblv90

SMARCB1:Ensemblv90

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

26 panels

Panel Reviews Mode of inheritance Details
26 panels

Amber SMARCB1 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.405

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 0.511

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

Green SMARCB1 in Hypertrichosis syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.47

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

Green SMARCB1 in Mendeliome


Version 1.3802

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 1.309

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 0.578

    		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 1.508

    		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 0.365

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

    Red SMARCB1 in CGC_86


    Version 0.3

    		0 reviews Other
    Sources
    • CGC_86
    Phenotypes
    • Rhabdoid tumor predisposition syndrome 1

    Red SMARCB1 in NCGC


    Version 0.3

    		0 reviews Other
    Sources
    • NCGC
    Phenotypes
    • Rhabdoid tumor predisposition syndrome 1

    Red SMARCB1 in TCGA_PANCAN_2018


    Version 0.3

    		0 reviews Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Rhabdoid tumor predisposition syndrome 1

    Green SMARCB1 in Schwannomatosis


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.17

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • {Schwannomatosis-1, susceptibility to} MIM#162091

    Amber SMARCB1 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.293

    		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 0.80

    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 1.482

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

    Amber SMARCB1 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

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

    Green SMARCB1 in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 1.0

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

    Green SMARCB1 in Hypertrichosis syndromes


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

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

    Green SMARCB1 in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 1.0

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

    Green SMARCB1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

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

    Green SMARCB1 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

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

    Green SMARCB1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.0

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

    Green SMARCB1 in Schwannomatosis


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • {Schwannomatosis-1, susceptibility to} MIM#162091

    Amber SMARCB1 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

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

    Green SMARCB1 in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

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