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| 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 |
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| 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 |
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