Childhood solid tumours 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
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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
-
- Sarcoma susceptibility
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Sarcoma cancer susceptibility
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- Amyotrophic lateral sclerosis/motor neuron disease
- Distal myopathies
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
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