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| Adult onset dystonia, chorea or related movement disorder v1.166 | C9orf72_GGGGCC | Eleanor Williams commented on STR: C9orf72_GGGGCC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v1.162 | C9orf72_GGGGCC |
Arina Puzriakova Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24. Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200. |
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| Adult onset dystonia, chorea or related movement disorder v1.137 | C9orf72_GGGGCC | Arina Puzriakova Phenotypes for STR: C9orf72_GGGGCC were changed from Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 OMIM:105550; frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105 to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v1.136 | C9orf72 | Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v1.136 | C9orf72 | Arina Puzriakova Mode of inheritance for gene: C9orf72 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v1.134 | C9orf72 |
Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: C9orf72. Tag currently-ngs-unreportable tag was added to gene: C9orf72. |
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| Adult onset dystonia, chorea or related movement disorder v1.114 | C9orf72_GGGGCC | Sarah Leigh Phenotypes for STR: C9orf72_GGGGCC were changed from Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550 to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 OMIM:105550; frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.93 | C9orf72_GGGGCC | Louise Daugherty commented on STR: C9orf72_GGGGCC: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.87 | C9orf72 | Louise Daugherty edited their review of gene: C9orf72: Added comment: This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group as it is a RED gene on the Parkinson Disease and Complex Parkinsonism panel. It relates to the STR C9orf72_GGGGCC (rated GREEN) and not the gene entity, as there are no SNVs for this gene being associated to the disorder, so this gene has been rated as RED; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.56 | C9orf72_GGGGCC | Louise Daugherty Source NHS GMS was added to STR: C9orf72_GGGGCC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.55 | C9orf72_GGGGCC | Louise Daugherty commented on STR: C9orf72_GGGGCC: STR rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment : STR suggested by Huw and Raquel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.55 | C9orf72_GGGGCC |
Louise Daugherty Source London North GLH was added to STR: C9orf72_GGGGCC. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Adult onset dystonia, chorea or related movement disorder v0.50 | C9orf72 | Louise Daugherty reviewed gene: C9orf72: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | C9orf72 | Louise Daugherty Source NHS GMS was added to C9orf72. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.46 | C9orf72 | Louise Daugherty Source South West GLH was added to C9orf72. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.24 | C9orf72_GGGGCC | Louise Daugherty Classified STR: C9orf72_GGGGCC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.24 | C9orf72_GGGGCC | Louise Daugherty Str: c9orf72_ggggcc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.23 | C9orf72_GGGGCC |
Louise Daugherty STR: C9orf72_GGGGCC was added STR: C9orf72_GGGGCC was added to Adult onset movement disorder. Sources: Expert list STR tags were added to STR: C9orf72_GGGGCC. Mode of inheritance for STR: C9orf72_GGGGCC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: C9orf72_GGGGCC were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550 Review for STR: C9orf72_GGGGCC was set to GREEN Added comment: Source PanelApp panels : Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.6 Sources: Expert list |
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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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