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

14 panels

Panel Reviews Mode of inheritance Details
14 panels
Green SMARCB1 in Familial Tumours Syndromes of the central & peripheral Nervous system

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.15

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Schwannomatosis
  • (originally on Familial schwannomatosis gene panel)
Green SMARCB1 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
  • Atypical rhabdoid tumor predisposition
Green SMARCB1 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
  • Atypical rhabdoid tumor predisposition
  • 609322
Green SMARCB1 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 1}, OMIM:609322
  • Rhabdoid tumor predisposition syndrome 1, MONDO:0012252
Red SMARCB1 in Pigmentary skin disorders


Level 2: Dermatology
Version 4.13
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Schwannomatosis-1, susceptibility to
Green SMARCB1 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
  • Atypical rhabdoid tumor predisposition
Green SMARCB1 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
  • Atypical rhabdoid tumor predisposition
Red SMARCB1 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
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
    Green SMARCB1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    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 PREDISPOSITION SYNDROME 1
    • ?COFFIN-SIRIS SYNDROME
    Green SMARCB1 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
    • EHMT1-like SYNDROME
    • RHABDOID PREDISPOSITION SYNDROME 1 609322
    Amber SMARCB1 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
    • Expert Review Amber
    • Literature
    Phenotypes
    • Coffin-Siris syndrome 3, OMIM:614608
    Green SMARCB1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    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 3, OMIM:614608
    Amber SMARCB1 in Sarcoma susceptibility


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

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Amber
    • Expert list
    Phenotypes
    • {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322
    • Rhabdoid tumor predisposition syndrome 1, MONDO:0012252
    • {Schwannomatosis-1, susceptibility to}, OMIM:162091
    • Schwannomatosis 1, MONDO:0024517
    Green SMARCB1 in Familial tumours of the nervous system


    Level 2: Neurology
    Version 2.14
    Latest signed off version: v2.0 (20 Dec 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • {Schwannomatosis-1, susceptibility to}, OMIM:162091
    • {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322
    • rhabdoid tumor predisposition syndrome 1, MONDO:0012252
    • SMARCB1-related schwannomatosis, MONDO:0024517