Activity
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| Amyotrophic lateral sclerosis/motor neuron disease v1.69 | SQSTM1 | David Collier reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22084127 PMID: 23417734 PMID: 23303844 PMID: 22972638 PMID: 24138988 PMID: 24042580 PMID: 23942205, PMID: 23812289, PMID: 25700176, PMID: 28889094, PMID: 29457785, PMID: 31859009, PMID: 32028661; 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; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.29 | SQSTM1 |
Agnese Zarina 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 Added comment: The gene is included in other panels, but one of the phenotypes is also ALS Sources: Literature |
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