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  3. SMARCB1
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Familial tumours of the nervous system

Gene: SMARCB1

Green List (high evidence)
SMARCB1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1)
EnsemblGeneIds (GRCh38): ENSG00000099956
EnsemblGeneIds (GRCh37): ENSG00000099956
OMIM: 601607, Gene2Phenotype
SMARCB1 is in 14 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #162091 & #609322) and the OMIM records were last accessed on 29 December 2025.
Created: 29 Dec 2025, 2:52 p.m. | Last Modified: 29 Dec 2025, 2:52 p.m.
Panel Version: 2.11
SMARCB1 has been added to the panel for R221 Familial tumours of the nervous system with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 1:13 p.m. | Last Modified: 30 Jun 2023, 1:13 p.m.
Panel Version: 0.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 30 Jun 2023, 1:13 p.m.
Last Modified: 30 Jun 2023, 1:13 p.m.
Panel version: 0.1

Details

Mode of Inheritance
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
OMIM
601607
Clinvar variants
Variants in SMARCB1
Penetrance
None
Panels with this gene

History Filter Activity

29 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: SMARCB1 were changed from to {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

29 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SMARCB1 was added gene: SMARCB1 was added to Familial tumours of the nervous system. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown