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| Adult onset dystonia, chorea or related movement disorder v1.49 | GFAP | Arina Puzriakova Phenotypes for gene: GFAP were changed from Alexander disease 203450 to Alexander disease, OMIM:203450 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.91 | GFAP | Louise Daugherty Classified gene: GFAP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.91 | GFAP | Louise Daugherty Added comment: Comment on list classification: As 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 gene Green - despite two initial red ratings from two GLH groups. Adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.91 | GFAP | Louise Daugherty Gene: gfap has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.90 | GFAP | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.90 | GFAP | Louise Daugherty commented on gene: GFAP: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.54 | GFAP | Louise Daugherty commented on gene: GFAP: Review and 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.53 | GFAP | James Polke reviewed gene: GFAP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.51 | GFAP | Louise Daugherty Source London North GLH was added to GFAP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.50 | GFAP | Louise Daugherty reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.49 | GFAP | Emily Jones reviewed gene: GFAP: Rating: RED; Mode of pathogenicity: ; Publications: 15732098, 14557587; Phenotypes: Alexander disease 203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.48 | GFAP |
Louise Daugherty Added phenotypes Alexander disease 203450 for gene: GFAP Publications for gene GFAP were changed from 15732098; 14557587 to 14557587; 15732098 |
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| Adult onset dystonia, chorea or related movement disorder v0.47 | GFAP | Louise Daugherty Source NHS GMS was added to GFAP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.46 | GFAP | Louise Daugherty Source South West GLH was added to GFAP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.2 | GFAP |
Ellen McDonagh gene: GFAP was added gene: GFAP was added to Adult onset movement disorder. Sources: Expert Review Amber Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GFAP were set to 15732098; 14557587 Phenotypes for gene: GFAP were set to Alexander disease 203450 |
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