Childhood solid tumours cancer susceptibility

Gene: SQSTM1

Amber List (moderate evidence)

SQSTM1 (sequestosome 1)
EnsemblGeneIds (GRCh38): ENSG00000161011
EnsemblGeneIds (GRCh37): ENSG00000161011
OMIM: 601530, Gene2Phenotype
SQSTM1 is in 8 panels

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Details

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

History Filter Activity

26 Mar 2019, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: SQSTM1 was added gene: SQSTM1 was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber Mode of inheritance for gene: SQSTM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SQSTM1 were set to Paget disease of bone 3 167250; Osteosarcoma