1. Panels
  2. Embryonal tumour of possible germline origin
  3. SMARCB1
STRs in panel
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Embryonal tumour of possible germline origin

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 15 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

SMARCB1 has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 26 Jan 2026, 6:10 p.m. | Last Modified: 26 Jan 2026, 6:10 p.m.
Panel Version: 0.7
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #162091 & #609322) and the OMIM record was last accessed on 30 December 2025.
Created: 30 Dec 2025, 11:14 a.m. | Last Modified: 30 Dec 2025, 11:14 a.m.
Panel Version: 0.2

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

Phenotypes
SMARCB1-related schwannomatosis, MONDO:0024517; {Schwannomatosis-1, susceptibility to}, OMIM:162091; rhabdoid tumor predisposition syndrome 1, MONDO:0012252; {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322

Created: 30 Dec 2025, 11:14 a.m.
Last Modified: 30 Dec 2025, 11:14 a.m.
Panel version: 0.7

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • SMARCB1-related schwannomatosis, MONDO:0024517
  • rhabdoid tumor predisposition syndrome 1, MONDO:0012252
  • {Schwannomatosis-1, susceptibility to}, OMIM:162091
  • {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322
OMIM
601607
Clinvar variants
Variants in SMARCB1
Penetrance
None
Panels with this gene

History Filter Activity

30 Dec 2025, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SMARCB1 was added gene: SMARCB1 was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMARCB1 were set to SMARCB1-related schwannomatosis, MONDO:0024517; rhabdoid tumor predisposition syndrome 1, MONDO:0012252; {Schwannomatosis-1, susceptibility to}, OMIM:162091; {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322