SMARCB1

SWI/SNF related BAF chromatin remodeling complex subunit B1
OMIM: 601607, ClinGen, DECIPHER

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Amber SMARCB1 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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 1.0

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

Green SMARCB1 in Hypertrichosis syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

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

Green SMARCB1 in Mendeliome


Version 2.0

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 1.0

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

Green SMARCB1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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 1.0

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 2.0

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 1.0

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 1.0

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 1.0

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 2.0

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 2.0

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 2.0

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 2.0

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