Sarcoma susceptibility

Gene: SQSTM1

Green List (high evidence)

SQSTM1 (sequestosome 1)
EnsemblGeneIds (GRCh38): ENSG00000161011
EnsemblGeneIds (GRCh37): ENSG00000161011
OMIM: 601530, Gene2Phenotype
SQSTM1 is in 9 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: agreed that there is enough evidence to rate this gene green.
Created: 23 Jul 2019, 3:16 p.m. | Last Modified: 23 Jul 2019, 3:16 p.m.
Panel Version: 0.2

Ellen McDonagh (Genomics England Curator)

This gene was reviewed by Lara Hawkes (Cancer Clinical Team, Genomics England) and agrees this should be included on this panel.
Created: 20 Aug 2018, 1:30 p.m.
Gene and evidence provided by Adrienne Flanagan, UCL.
Created: 14 May 2018, 3:42 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Osteosarcoma
  • Paget disease of bone 3 167250
OMIM
601530
Clinvar variants
Variants in SQSTM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jul 2019, Gel status: 3

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

Rebecca Foulger (Genomics England curator)

gene: SQSTM1 was added gene: SQSTM1 was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SQSTM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SQSTM1 were set to 21437228; 11473345; 9345096; 12374763 Phenotypes for gene: SQSTM1 were set to Osteosarcoma; Paget disease of bone 3 167250