| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Amyotrophic lateral sclerosis/motor neuron disease v1.67 | SPAST | Sarah Leigh Publications for gene: SPAST were set to 16832076; 18401025; 33589474 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.66 | SPAST | Sarah Leigh reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: None; Publications: 16240363, 18401025, 33589474; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.66 | SPAST | Sarah Leigh Classified gene: SPAST as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.66 | SPAST | Sarah Leigh Gene: spast has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.65 | SPAST | Sarah Leigh Phenotypes for gene: SPAST were changed from Spastic paraplegia 4, autosomal dominant to Spastic paraplegia 4, autosomal dominant, OMIM:182601; hereditary spastic paraplegia 4, MONDO:0008438 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.62 | SPAST |
Andrey Gagunashvili gene: SPAST was added gene: SPAST was added to Amyotrophic lateral sclerosis/motor neuron disease. Sources: Literature,Research Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPAST were set to 16832076; 18401025; 33589474 Phenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant Penetrance for gene: SPAST were set to unknown Review for gene: SPAST was set to AMBER Added comment: Shall be added to "Amyotrophic lateral sclerosis/motor neuron disease" gene panel due to the phenotypic overlap of ALS/MND and spastic paraplegia. This gene is included in Sheffield's group ALS/MND gene panel (Sheffield Institute for Translational Neuroscience, The University of Sheffield). Sources: Literature, Research |
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| Amyotrophic lateral sclerosis/motor neuron disease v1.49 | KIF5A |
Andrey Gagunashvili gene: KIF5A was added gene: KIF5A was added to Amyotrophic lateral sclerosis/motor neuron disease. Sources: Literature Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF5A were set to 29566793; 29342275; 30581417; 33077544; 34873335 Phenotypes for gene: KIF5A were set to Amyotrophic lateral sclerosis Penetrance for gene: KIF5A were set to unknown Review for gene: KIF5A was set to GREEN Added comment: "...mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases." (Nicolas et al., 2018) Sources: Literature |
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| Amyotrophic lateral sclerosis/motor neuron disease v1.34 | ALS2 | Arina Puzriakova Phenotypes for gene: ALS2 were changed from Amyotrophic Lateral Sclerosis, Recessive; Amyotrophic lateral sclerosis 2, juvenile, 205100; Primary lateral sclerosis, juvenile, 606353; Spastic paralysis, infantile onset ascending, 607225 to Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100; Primary lateral sclerosis, juvenile, OMIM:606353 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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