Early-onset Dementia
Gene: SQSTM1EnsemblGeneIds (GRCh38): ENSG00000161011
EnsemblGeneIds (GRCh37): ENSG00000161011
OMIM: 601530, Gene2Phenotype
SQSTM1 is in 11 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
ClinGen ALS GCEP classification on 13/12/2022 was downgraded to moderate for FTD and/or ALS due to lack of evidence supportive of a gene-disease association. Distinct mechanism of disease is unknown and current evidence is conflicting.
Multiple individuals with FTD and/or ALS have been reported with mutations in SQSTM1.Created: 16 Aug 2023, 1:22 a.m. | Last Modified: 16 Aug 2023, 1:22 a.m.
Panel Version: 0.179
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (MIM#616437)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Melbourne Genomics Health Alliance Complex Neurology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (MIM#616437)
- OMIM
- 601530
- Clinvar variants
- Variants in SQSTM1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sqstm1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SQSTM1 were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (MIM#616437)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SQSTM1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SQSTM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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 Early-onset Dementia_MGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: SQSTM1 was set to Unknown