Incidentalome_PREGEN_DRAFT
Gene: SQSTM1EnsemblGeneIds (GRCh38): ENSG00000161011
EnsemblGeneIds (GRCh37): ENSG00000161011
OMIM: 601530, Gene2Phenotype
SQSTM1 is in 11 panels
1 review
Tony Roscioli (New South Wales Health Pathology)
Comment on list classification: adult dementia but may also present in childhood - needs discussionCreated: 20 Jan 2021, 5:31 a.m. | Last Modified: 20 Jan 2021, 5:31 a.m.
Panel Version: 0.36
adult dementia but may also present in childhood - needs discussionCreated: 20 Jan 2021, 5:30 a.m. | Last Modified: 20 Jan 2021, 5:30 a.m.
Panel Version: 0.35
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Amber
- NSW Health Pathology
- OMIM
- 601530
- Clinvar variants
- Variants in SQSTM1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Tony Roscioli (New South Wales Health Pathology)Gene: sqstm1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SQSTM1 was added gene: SQSTM1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology Mode of inheritance for gene: SQSTM1 was set to Unknown