Sarcoma cancer susceptibility
Gene: SQSTM1
SQSTM1 (sequestosome 1)
EnsemblGeneIds (GRCh38): ENSG00000161011
EnsemblGeneIds (GRCh37): ENSG00000161011
OMIM: 601530, Gene2Phenotype
SQSTM1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000161011
EnsemblGeneIds (GRCh37): ENSG00000161011
OMIM: 601530, Gene2Phenotype
SQSTM1 is in 10 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
-
- Childhood solid tumours cancer susceptibility
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Sarcoma susceptibility
- Ataxia and cerebellar anomalies - narrow panel
- Childhood solid tumours
- Sarcoma cancer susceptibility
- Distal myopathies
- Amyotrophic lateral sclerosis/motor neuron disease
- Adult onset neurodegenerative disorder
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