Activity
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| Childhood onset dystonia, chorea or related movement disorder v7.25 | ATAD1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of biallelic variants with hyperekplexia. As other hyperekplexia-causing genes (e.g. GLRA1 & GLRB) are rated green on this panel, this gene should also be rated green in the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v7.23 | SLC6A5 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of both monoallelic and biallelic variants with hyperekplexia. As reviewed by Hannah Robinson, other hyperekplexia-causing genes (e.g. GLRA1 & GLRB) are rated green on this panel. Hence, this gene should be promoted to green rating in the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.7 | GLRA1 |
Ellen McDonagh Source PanelApp was added to GLRA1. Mode of inheritance for gene GLRA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Hyperekplexia, hereditary 1, 149400 for gene: GLRA1 Publications for gene GLRA1 were changed from to 20301437 |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | GLRA1 |
Ellen McDonagh gene: GLRA1 was added gene: GLRA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: GLRA1 was set to |
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