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| Hereditary ataxia with onset in adulthood v7.10 | TUBA4A |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: TUBA4A. Tag Q3_24_NHS_review was removed from gene: TUBA4A. |
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| Hereditary ataxia with onset in adulthood v7.10 | TUBA4A | Sarah Leigh edited their review of gene: TUBA4A: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v7.9 | TUBA4A |
Sarah Leigh Source NHS GMS was added to TUBA4A. Source Expert Review Green was added to TUBA4A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary ataxia with onset in adulthood v6.5 | TUBA4A |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: TUBA4A. Tag Q3_24_NHS_review tag was added to gene: TUBA4A. |
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| Hereditary ataxia with onset in adulthood v6.5 | 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v6.5 | TUBA4A | Sarah Leigh reviewed gene: TUBA4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v6.5 | TUBA4A | Sarah Leigh Classified gene: TUBA4A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v6.5 | TUBA4A | Sarah Leigh Gene: tuba4a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v6.4 | TUBA4A | Sarah Leigh Phenotypes for gene: TUBA4A were changed from Ataxia; Spasticity; Nystagmus; Abnormal eye movements; Dysarthria; cognitive decline to Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, OMIM:616208; amyotrophic lateral sclerosis type 22, MONDO:0014531 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v6.3 | TUBA4A | Sarah Leigh Publications for gene: TUBA4A were set to 37418012; 38884572 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v6.2 | TUBA4A | Sarah Leigh Publications for gene: TUBA4A were set to PMID: 37418012; 38884572 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v6.1 | TUBA4A |
Nour Elkhateeb gene: TUBA4A was added gene: TUBA4A was added to Hereditary ataxia with onset in adulthood. Sources: Literature Mode of inheritance for gene: TUBA4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBA4A were set to PMID: 37418012; 38884572 Phenotypes for gene: TUBA4A were set to Ataxia; Spasticity; Nystagmus; Abnormal eye movements; Dysarthria; cognitive decline Penetrance for gene: TUBA4A were set to unknown Review for gene: TUBA4A was set to GREEN Added comment: Heterozygous missense TUBA4A variants (p.Pro173Ser, p.Pro173Arg, and p.Glu415Lys) recently reported to be associated with ataxia and spasticity in 24 individuals from 13 families in PMID: 37418012 and 38884572 Sources: Literature |
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