Activity
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| Adult onset dystonia, chorea or related movement disorder v1.135 | C9orf72 | Arina Puzriakova Phenotypes for gene: C9orf72 were changed from complex parkinsonism; (Hexanucleotideexpansion); clinical presentation suggestive of cortico-basal/PSP syndrome to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.88 | HEXA | Louise Daugherty edited their review of gene: HEXA: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.50 | HEXA | Louise Daugherty reviewed gene: HEXA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.49 | HEXA | Emily Jones reviewed gene: HEXA: Rating: RED; Mode of pathogenicity: ; Publications: 20301397, 18642377; Phenotypes: GM2-gangliosidosis, several forms 272800, Tay-Sachs disease 272800, Hex A pseudodeficiency 272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.49 | C9orf72 | Emily Jones reviewed gene: C9orf72: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: 25326098, 25326098; Phenotypes: (Hexanucleotideexpansion), complex parkinsonism, clinical presentation suggestive of cortico-basal/PSP syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.48 | HEXA |
Louise Daugherty Added phenotypes Hex A pseudodeficiency 272800; GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800 for gene: HEXA Publications for gene HEXA were changed from to 20301397; 18642377 |
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| Adult onset dystonia, chorea or related movement disorder v0.48 | C9orf72 |
Louise Daugherty Added phenotypes complex parkinsonism; (Hexanucleotideexpansion); clinical presentation suggestive of cortico-basal/PSP syndrome for gene: C9orf72 Publications for gene C9orf72 were changed from http://www.ncbi.nlm.nih.gov/pubmed/25326098; 25326098 to 25326098 |
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| Adult onset dystonia, chorea or related movement disorder v0.47 | HEXA | Louise Daugherty Source NHS GMS was added to HEXA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.46 | HEXA | Louise Daugherty Source South West GLH was added to HEXA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.2 | HEXA |
Ellen McDonagh gene: HEXA was added gene: HEXA was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HEXA were set to GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800; Hex A pseudodeficiency 272800 |
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| Adult onset dystonia, chorea or related movement disorder v0.2 | C9orf72 |
Ellen McDonagh gene: C9orf72 was added gene: C9orf72 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: C9orf72 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: C9orf72 were set to http://www.ncbi.nlm.nih.gov/pubmed/25326098; 25326098 Phenotypes for gene: C9orf72 were set to (Hexanucleotideexpansion); complex parkinsonism; clinical presentation suggestive of cortico-basal/PSP syndrome Mode of pathogenicity for gene: C9orf72 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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