Activity
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7 actions
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| Adult onset neurodegenerative disorder v4.20 | GLT8D1 | Sarah Leigh reviewed gene: GLT8D1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v4.20 | GLT8D1 | Sarah Leigh Classified gene: GLT8D1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v4.20 | GLT8D1 | Sarah Leigh Gene: glt8d1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v4.19 | GLT8D1 | Sarah Leigh Publications for gene: GLT8D1 were set to 30811981; 35525134:33581933:31653410:33714647:34746377 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v4.18 | GLT8D1 | Sarah Leigh Phenotypes for gene: GLT8D1 were changed from Amyotrophic lateral sclerosis to familial amyotrophic lateral sclerosis, MONDO:0005144 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v4.17 | GLT8D1 | Sarah Leigh Publications for gene: GLT8D1 were set to 30811981 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v2.16 | GLT8D1 |
Zornitza Stark gene: GLT8D1 was added gene: GLT8D1 was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: GLT8D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GLT8D1 were set to 30811981 Phenotypes for gene: GLT8D1 were set to Amyotrophic lateral sclerosis Review for gene: GLT8D1 was set to GREEN gene: GLT8D1 was marked as current diagnostic Added comment: 14 ALS cases with heterozygous missense (10 cases with p.R92C), and supporting in vitro functional assays and zebrafish model. Sources: Expert list |
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