SMARCB1

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

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green SMARCB1 in Familial Tumours Syndromes of the central & peripheral Nervous system

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.9

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 1.22

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Atypical rhabdoid tumor predisposition

Green SMARCB1 in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 2.0

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 Rhabdoid tumour predisposition


Version 1.0

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

Green SMARCB1 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
  • Atypical rhabdoid tumor predisposition

Green SMARCB1 in Adult solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.0

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 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.0

review Not set
Sources
Phenotypes
  • Coffin Siris syndrome

Green SMARCB1 in Fetal anomalies


Version 1.0

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 2.0

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EHMT1-like SYNDROME
  • RHABDOID PREDISPOSITION SYNDROME 1 609322

Green SMARCB1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Rhabdoid tumors, somatic, 609322Rhabdoid predisposition syndrome 1, 609322Mental retardation, autosomal dominant 15, 614608
  • RHABDOID PREDISPOSITION SYNDROME 1

Amber SMARCB1 in Sarcoma susceptibility


Version 1.0

review Not set
Sources
  • NHS GMS
  • Expert Review Amber
  • Expert list
Phenotypes
  • Rhabdoid tu, schwannomatosis