| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Adult onset neurodegenerative disorder v2.148 | CCDC88C | Ivone Leong Phenotypes for gene: CCDC88C were changed from autosomal dominant spinocerebellar ataxia to ?Spinocerebellar ataxia 40, OMIM:616053 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.106 | CCDC88C | Louise Daugherty commented on gene: CCDC88C: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.105 | CCDC88C |
Louise Daugherty Source Expert Review Amber was added to CCDC88C. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Adult onset neurodegenerative disorder v1.81 | CCDC88C | Louise Daugherty Publications for gene CCDC88C were changed from PMID: 25062847 to 25062847; 30398676 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.74 | CCDC88C | Louise Daugherty commented on gene: CCDC88C: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.72 | CCDC88C | Nick Beauchamp reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: ; Publications: 30398676, 25062847; Phenotypes: autosomal dominant spinocerebellar ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.67 | CCDC88C | Louise Daugherty Source Yorkshire and North East GLH was added to CCDC88C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.7 | CCDC88C | Louise Daugherty reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.6 | CCDC88C | Anthony Dallosso reviewed gene: CCDC88C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: autosomal dominant spinocerebellar ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.5 | CCDC88C | Louise Daugherty Source NHS GMS was added to CCDC88C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.4 | CCDC88C | Louise Daugherty Source South West GLH was added to CCDC88C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.2 | CCDC88C |
Rebecca Foulger gene: CCDC88C was added gene: CCDC88C was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: CCDC88C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CCDC88C were set to PMID: 25062847 Phenotypes for gene: CCDC88C were set to autosomal dominant spinocerebellar ataxia |
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