Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.73 | TUBA4A | Sarah Leigh changed review comment from: At least seven TUBA4A variants have been associated with Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, (OMIM:616208)(PMID: 25374358; 37418012; 38884572). Spastic ataxia has been noted as an additional phenotypic feature in patients reported by PMID: 37418012;38884572. Furthermore, cultured fibroblasts from 3 patients with different TUBA4A missense variants, showed significant alterations in microtubule organization and dynamics (PMID: 38884572).; to: At least 15 TUBA4A variants have been associated with Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, (OMIM:616208)(PMID: 25374358; 37418012; 38884572). Spastic ataxia (in 4/13 unrelated cases) and nystagmus (in 5/13 unrelated cases) have been noted as additional phenotypic features in patients reported by PMID: 37418012; 38884572. Furthermore, functional studies show that missense TUBA4A variants significantly alter the microtubule organization and dynamics, diminishing its repolymerization capability (PMID: 25374358; 38884572). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.73 | TUBA4A | Sarah Leigh reviewed gene: TUBA4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.73 | TUBA4A | Sarah Leigh Publications for gene: TUBA4A were set to 25374358 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.72 | TUBA4A | Sarah Leigh Classified gene: TUBA4A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.72 | TUBA4A | Sarah Leigh Gene: tuba4a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.71 | TUBA4A | Sarah Leigh Phenotypes for gene: TUBA4A were changed from Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia to Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, OMIM:616208; amyotrophic lateral sclerosis type 22, MONDO:0014531 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.70 | TUBA4A | Sarah Leigh Publications for gene: TUBA4A were set to https://doi.org/10.1016/j.neuron.2014.09.027 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.29 | TUBA4A |
Agnese Zarina gene: TUBA4A was added gene: TUBA4A was added to Amyotrophic lateral sclerosis/motor neuron disease. Sources: Literature Mode of inheritance for gene: TUBA4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBA4A were set to https://doi.org/10.1016/j.neuron.2014.09.027 Phenotypes for gene: TUBA4A were set to Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia Penetrance for gene: TUBA4A were set to Complete Review for gene: TUBA4A was set to AMBER Added comment: Gene is added to "Neurodegenerative disorders - adult onset" panel, but the phenotype can be also amyotrophic lateral sclerosis with or without frontotemporal dementia Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||