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Adult onset neurodegenerative disorder v2.54 | CACNA1G | Ivone Leong Phenotypes for gene: CACNA1G were changed from Spinocerebellar ataxia 42, 61679 to Spinocerebellar ataxia 42, OMIM:616795 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.101 | CACNA1G | Louise Daugherty commented on gene: CACNA1G: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.100 | CACNA1G | Louise Daugherty Source Wessex and West Midlands GLH was added to CACNA1G. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.99 | CACNA1G | Tracy Lester reviewed gene: CACNA1G: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 28726809; Phenotypes: Spinocerebellar ataxia 42, 61679; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.81 | CACNA1G | Louise Daugherty Publications for gene CACNA1G were changed from to 26715324; 26456284 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.74 | CACNA1G | Louise Daugherty commented on gene: CACNA1G: 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 | CACNA1G | Nick Beauchamp reviewed gene: CACNA1G: Rating: GREEN; Mode of pathogenicity: ; Publications: 26456284, 26715324; Phenotypes: Spinocerebellar ataxia 42, 61679; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.67 | CACNA1G | Louise Daugherty Source Yorkshire and North East GLH was added to CACNA1G. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.11 | CACNA1G | Louise Daugherty reviewed gene: CACNA1G: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.10 | CACNA1G | James Polke reviewed gene: CACNA1G: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.9 | CACNA1G | Louise Daugherty Source NHS GMS was added to CACNA1G. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.8 | CACNA1G | Louise Daugherty Source London North GLH was added to CACNA1G. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v0.147 | CACNA1G | Louise Daugherty Phenotypes for gene: CACNA1G were changed from to Spinocerebellar ataxia 42, 61679 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v0.30 | CACNA1G | Rebecca Foulger Mode of pathogenicity for gene: CACNA1G was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v0.2 | CACNA1G |
Rebecca Foulger gene: CACNA1G was added gene: CACNA1G was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |