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| Childhood onset dystonia, chorea or related movement disorder v1.49 | C9orf72 | Zornitza Stark changed review comment from: Dystonia is well described but this appears to be an adult-onset disorder.; to: Dystonia is well described but this appears to be an adult-onset disorder. Also note condition is caused by heterozygous hexanucleotide repeat expansion (GGGGCC) in a noncoding region of the C9ORF72 gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.257 | HEXA | Louise Daugherty commented on gene: HEXA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.112 | HEXA | Louise Daugherty Phenotypes for gene: HEXA were changed from [Hex A pseudodeficiency] 272800 AR; GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800 to Hex A pseudodeficiency, 272800 AR; GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.1 | HEXA |
Ellen McDonagh Source South West GLH was added to HEXA. Mode of inheritance for gene HEXA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes [Hex A pseudodeficiency] 272800 AR; GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800 for gene: HEXA |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | HEXA |
Ellen McDonagh gene: HEXA was added gene: HEXA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: HEXA was set to |
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