Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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5 actions
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| Dystonia, chorea or related movement disorder, childhood onset v0.7 | SDHA |
Ellen McDonagh Source PanelApp was added to SDHA. Mode of inheritance for gene SDHA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642 for gene: SDHA |
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| Dystonia, chorea or related movement disorder, childhood onset v0.1 | SDHAF1 |
Ellen McDonagh Source South West GLH was added to SDHAF1. Mode of inheritance for gene SDHAF1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial complex II deficiency, 252011 for gene: SDHAF1 |
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| Dystonia, chorea or related movement disorder, childhood onset v0.0 | SDHAF2 |
Ellen McDonagh gene: SDHAF2 was added gene: SDHAF2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SDHAF2 was set to |
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| Dystonia, chorea or related movement disorder, childhood onset v0.0 | SDHAF1 |
Ellen McDonagh gene: SDHAF1 was added gene: SDHAF1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SDHAF1 was set to |
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| Dystonia, chorea or related movement disorder, childhood onset v0.0 | SDHA |
Ellen McDonagh gene: SDHA was added gene: SDHA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SDHA was set to |
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