Amyotrophic lateral sclerosis/motor neuron disease
Gene: SQSTM1EnsemblGeneIds (GRCh38): ENSG00000161011
EnsemblGeneIds (GRCh37): ENSG00000161011
OMIM: 601530, Gene2Phenotype
SQSTM1 is in 10 panels
2 reviews
David Collier (King's College London)
Note that Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy (MIM617145) is autosomal recessive.Created: 2 Jul 2024, 9:37 a.m. | Last Modified: 2 Jul 2024, 9:37 a.m.
Panel Version: 1.69
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
ALS; MND; motor neuron disease; Amyotrophic Lateral Sclerosis; Amyotrophic Lateral Sclerosis 3; Paget's disease of bone; frontotemporal lobar degeneration; Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy; Myopathy, distal, with rimmed vacuoles
Publications
Agnese Zarina (Rīga Stradiņš Univeristy)
The gene is included in other panels, but one of the phenotypes is also ALS
Sources: LiteratureCreated: 17 Jun 2021, 11:04 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
Publications
- doi:10.1001/archneurol.2011.250
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Phenotypes
-
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
- OMIM
- 601530
- Clinvar variants
- Variants in SQSTM1
- Penetrance
- Complete
- Publications
-
- doi:10.1001/archneurol.2011.250
- 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
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Agnese Zarina (Rīga Stradiņš Univeristy)gene: SQSTM1 was added gene: SQSTM1 was added to Amyotrophic lateral sclerosis/motor neuron disease. Sources: Literature Mode of inheritance for gene: SQSTM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SQSTM1 were set to doi:10.1001/archneurol.2011.250 Phenotypes for gene: SQSTM1 were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Penetrance for gene: SQSTM1 were set to Complete Review for gene: SQSTM1 was set to AMBER