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

1 review

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

History Filter Activity

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