Activity
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| Dystonia, chorea or related movement disorder, childhood onset v1.181 | CACNA1A | Arina Puzriakova Phenotypes for gene: CACNA1A were changed from familial hemiplegic migraine type 1, 141500; Dystonia; episodic ataxia type 2 (EA2), 108500 to Episodic ataxia, type 2, OMIM:108500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.7 | CACNA1A |
Ellen McDonagh Source PanelApp was added to CACNA1A. Mode of inheritance for gene CACNA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes familial hemiplegic migraine type 1, 141500; Dystonia; episodic ataxia type 2 (EA2), 108500 for gene: CACNA1A Publications for gene CACNA1A were changed from to 21734179; 17575281 |
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| Dystonia, chorea or related movement disorder, childhood onset v0.0 | CACNA1A |
Ellen McDonagh gene: CACNA1A was added gene: CACNA1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: CACNA1A was set to |
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