Sarcoma cancer susceptibility

Gene: SQSTM1

Green List (high evidence)

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

1 review

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
  • Expert list
Phenotypes
  • Paget disease of bone 3 167250
  • Osteosarcoma
OMIM
601530
Clinvar variants
Variants in SQSTM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Ellen McDonagh: Gene and evidence provided by

14 May 2018, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 May 2018, Gel status: 1

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SQSTM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

14 May 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SQSTM1 were set to Paget disease of bone 3 167250; Osteosarcoma

14 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SQSTM1 was added to Sarcoma pertinent cancer susceptibility panel. Sources: Expert list

14 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

SQSTM1 was created by Ellen McDonagh