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| Childhood onset dystonia, chorea or related movement disorder v0.258 | TPK1 | Louise Daugherty Classified gene: TPK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.258 | TPK1 | Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH). Reported in multiple families | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.258 | TPK1 | Louise Daugherty Gene: tpk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.23 | TPK1 | Ellen McDonagh Classified gene: TPK1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.23 | TPK1 | Ellen McDonagh Added comment: Comment on list classification: Kept as Red, as only one patient reported with dystonia, and one Red review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.23 | TPK1 | Ellen McDonagh Gene: tpk1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.22 | TPK1 | Ellen McDonagh Publications for gene: TPK1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.1 | TPK1 |
Ellen McDonagh Source South West GLH was added to TPK1. Mode of inheritance for gene TPK1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 for gene: TPK1 |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | TPK1 |
Ellen McDonagh gene: TPK1 was added gene: TPK1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TPK1 was set to |
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