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Adult onset neurodegenerative disorder v7.8 TUBA4A Arina Puzriakova Tag Q3_24_promote_green was removed from gene: TUBA4A.
Tag Q3_24_NHS_review was removed from gene: TUBA4A.
Adult onset neurodegenerative disorder v7.8 TUBA4A Arina Puzriakova reviewed gene: TUBA4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v7.6 TUBA4A Arina Puzriakova Source Expert Review Green was added to TUBA4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset neurodegenerative disorder v6.2 TUBA4A Sarah Leigh Tag Q3_24_NHS_review tag was added to gene: TUBA4A.
Adult onset neurodegenerative disorder v6.2 TUBA4A Sarah Leigh Tag Q3_24_promote_green tag was added to gene: TUBA4A.
Adult onset neurodegenerative disorder v6.2 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).
Adult onset neurodegenerative disorder v6.2 TUBA4A Sarah Leigh reviewed gene: TUBA4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v6.2 TUBA4A Sarah Leigh Phenotypes for gene: TUBA4A were changed from Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, OMIM:616208 to Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, OMIM:616208; amyotrophic lateral sclerosis type 22, MONDO:0014531
Adult onset neurodegenerative disorder v2.171 TUBA4A Ivone Leong Phenotypes for gene: TUBA4A were changed from Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, 616208 to Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, OMIM:616208
Adult onset neurodegenerative disorder v1.106 TUBA4A Louise Daugherty commented on gene: TUBA4A: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.74 TUBA4A Louise Daugherty reviewed gene: TUBA4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.72 TUBA4A Nick Beauchamp reviewed gene: TUBA4A: Rating: AMBER; Mode of pathogenicity: ; Publications: 25374358, 25893256, 28069311; Phenotypes: Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, 616208; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.70 TUBA4A Louise Daugherty Mode of inheritance for gene TUBA4A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, 616208 for gene: TUBA4A
Publications for gene TUBA4A were changed from to 25374358; 28069311; 25893256
Adult onset neurodegenerative disorder v1.66 TUBA4A Louise Daugherty Source NHS GMS was added to TUBA4A.
Adult onset neurodegenerative disorder v1.65 TUBA4A Louise Daugherty Source Yorkshire and North East GLH was added to TUBA4A.
Adult onset neurodegenerative disorder v1.64 TUBA4A Louise Daugherty gene: TUBA4A was added
gene: TUBA4A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: TUBA4A was set to