Sarcoma susceptibility

Gene: SMARCB1

Amber List (moderate 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 12 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: This gene is also associated with Coffin-Siris syndrome 3, OMIM:614608 and Rhabdoid tumors, somatic, OMIM:609322
Created: 12 Mar 2021, 11:15 a.m. | Last Modified: 12 Mar 2021, 11:15 a.m.
Panel Version: 1.55

Rebecca Foulger (Genomics England curator)

I don't know

This gene was added to the panel as suggested by Dr Fernanda Amary (Royal National Orthopaedic Hospital, NHS Trust). Gene Symbol submitted: SMARCB1; Phenotype submitted: Rhabdoid tu, schwannomatosis. Rated Amber as agreed at the Genomics Cancer Panel Workshop, 16th July 2019.
Created: 23 Jul 2019, 3:16 p.m. | Last Modified: 23 Jul 2019, 3:16 p.m.
Panel Version: 0.2

Details

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

History Filter Activity

12 Mar 2021, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: SMARCB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

12 Mar 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SMARCB1 were changed from Rhabdoid tu, schwannomatosis to {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322; Rhabdoid tumor predisposition syndrome 1, MONDO:0012252; {Schwannomatosis-1, susceptibility to}, OMIM:162091; Schwannomatosis 1, MONDO:0024517

1 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to SMARCB1.

23 Jul 2019, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: SMARCB1 was added gene: SMARCB1 was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: SMARCB1 was set to Phenotypes for gene: SMARCB1 were set to Rhabdoid tu, schwannomatosis