Activity
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11 actions
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| Neurodegenerative disorders, adult onset v2.156 | GCDH | Ivone Leong Phenotypes for gene: GCDH were changed from Dystonia; Glutaricaciduria, type I, 231670 to Dystonia; Glutaricaciduria, type I, OMIM:231670 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.106 | GCDH | Louise Daugherty commented on gene: GCDH: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.105 | GCDH |
Louise Daugherty Source Expert Review Amber was added to GCDH. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Neurodegenerative disorders, adult onset v1.95 | GCDH | Louise Daugherty Phenotypes for gene: GCDH were changed from Dystonia to Dystonia; Glutaricaciduria, type I, 231670 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.94 | GCDH | Louise Daugherty Mode of inheritance for gene: GCDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | GCDH | Louise Daugherty Publications for gene GCDH were changed from to 23884036; 26316201 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | GCDH | Louise Daugherty reviewed gene: GCDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | GCDH | Nick Beauchamp reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: ; Publications: 23884036, 26316201; Phenotypes: Glutaricaciduria, type I, 231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.69 | GCDH | Louise Daugherty Source NHS GMS was added to GCDH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.67 | GCDH | Louise Daugherty Source Yorkshire and North East GLH was added to GCDH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v0.2 | GCDH |
Rebecca Foulger gene: GCDH was added gene: GCDH was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: GCDH was set to Unknown Phenotypes for gene: GCDH were set to Dystonia |
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