Activity
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| Childhood onset dystonia, chorea or related movement disorder v7.23 | SLC6A5 | Achchuthan Shanmugasundram Classified gene: SLC6A5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v7.23 | SLC6A5 | Achchuthan Shanmugasundram Gene: slc6a5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v7.22 | SLC6A5 | Achchuthan Shanmugasundram Phenotypes for gene: SLC6A5 were changed from Hyperekplexia 3, 614618 to Hyperekplexia 3, OMIM:614618; hyperekplexia 3, MONDO:0013827 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v7.21 | SLC6A5 | Achchuthan Shanmugasundram Publications for gene: SLC6A5 were set to 16751771 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v7.20 | SLC6A5 | Achchuthan Shanmugasundram Tag Q2_26_NHS_review tag was added to gene: SLC6A5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v7.20 | SLC6A5 | Achchuthan Shanmugasundram Tag Q2_26_promote_green tag was added to gene: SLC6A5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v7.20 | SLC6A5 | Achchuthan Shanmugasundram edited their review of gene: SLC6A5: Changed publications to: 16751771, 22753417 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v7.20 | SLC6A5 | Achchuthan Shanmugasundram reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperekplexia 3, OMIM:614618, hyperekplexia 3, MONDO:0013827; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v7.20 | SLC6A5 | Hannah Robinson reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: hyperekplexia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.7 | SLC6A5 |
Ellen McDonagh Source PanelApp was added to SLC6A5. Mode of inheritance for gene SLC6A5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Hyperekplexia 3, 614618 for gene: SLC6A5 Publications for gene SLC6A5 were changed from to 16751771 |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | SLC6A5 |
Ellen McDonagh gene: SLC6A5 was added gene: SLC6A5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: SLC6A5 was set to |
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