Activity
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| Amyotrophic lateral sclerosis/motor neuron disease v1.69 | SPG11 | David Collier reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 20110243, PMID: 36445564, PMID: 37133535, PMID: 27066562, PMID: 25681989, PMID: 38938072; Phenotypes: Juvenile amyotrophic lateral sclerosis (ALS) with long survival, hereditary motor sensory neuropathy (Charcot–Marie–Tooth disease type 2X), and multiple sclerosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.29 | SPG11 |
Agnese Zarina gene: SPG11 was added gene: SPG11 was added to Amyotrophic lateral sclerosis/motor neuron disease. Sources: Literature Mode of inheritance for gene: SPG11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPG11 were set to https://doi.org/10.1093/brain/awp325 Phenotypes for gene: SPG11 were set to Amyotrophic lateral sclerosis 5, juvenile Penetrance for gene: SPG11 were set to Complete Review for gene: SPG11 was set to AMBER Added comment: The gene is included in other panels (e.g., spastic paraplegia), but one of the phenotypes could be also ALS Sources: Literature |
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