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Adult onset neurodegenerative disorder v1.106 CACNB4 Louise Daugherty edited their review of gene: CACNB4: Added comment: 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 Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.105 CACNB4 Louise Daugherty Source Expert Review Red was added to CACNB4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.101 CACNB4 Louise Daugherty commented on gene: CACNB4: 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 CACNB4 Louise Daugherty Source Wessex and West Midlands GLH was added to CACNB4.
Adult onset neurodegenerative disorder v1.99 CACNB4 Tracy Lester reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic ataxia, type 5, EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9, EPISODIC ATAXIA, TYPE 5, Episodic Ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.74 CACNB4 Louise Daugherty commented on gene: CACNB4: 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 CACNB4 Nick Beauchamp reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic ataxia, type 5, EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9, EPISODIC ATAXIA, TYPE 5, Episodic Ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.67 CACNB4 Louise Daugherty Source Yorkshire and North East GLH was added to CACNB4.
Adult onset neurodegenerative disorder v1.11 CACNB4 Louise Daugherty reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CACNB4 James Polke reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.9 CACNB4 Louise Daugherty Source NHS GMS was added to CACNB4.
Adult onset neurodegenerative disorder v1.8 CACNB4 Louise Daugherty Source London North GLH was added to CACNB4.
Adult onset neurodegenerative disorder v0.2 CACNB4 Rebecca Foulger Tag treatable tag was added to gene: CACNB4.
Adult onset neurodegenerative disorder v0.2 CACNB4 Rebecca Foulger Added phenotypes Episodic ataxia, type 5; Episodic Ataxia for gene: CACNB4
Adult onset neurodegenerative disorder v0.2 CACNB4 Rebecca Foulger gene: CACNB4 was added
gene: CACNB4 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNB4 were set to 10762541; PMC1378014
Phenotypes for gene: CACNB4 were set to EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EPISODIC ATAXIA, TYPE 5