Activity

Filter

Cancel
Date Panel Item Activity
15 actions
Adult onset neurodegenerative disorder v1.106 ANO10 Louise Daugherty edited their review of gene: ANO10: 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 ANO10 Louise Daugherty Source Expert Review Red was added to ANO10.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.101 ANO10 Louise Daugherty commented on gene: ANO10: 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 ANO10 Louise Daugherty Source Wessex and West Midlands GLH was added to ANO10.
Adult onset neurodegenerative disorder v1.99 ANO10 Tracy Lester reviewed gene: ANO10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 10, 613728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.81 ANO10 Louise Daugherty Publications for gene ANO10 were changed from to 25182700
Adult onset neurodegenerative disorder v1.74 ANO10 Louise Daugherty commented on gene: ANO10: 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 ANO10 Nick Beauchamp reviewed gene: ANO10: Rating: GREEN; Mode of pathogenicity: ; Publications: 25182700; Phenotypes: Spinocerebellar ataxia, autosomal recessive 10, 613728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.67 ANO10 Louise Daugherty Source Yorkshire and North East GLH was added to ANO10.
Adult onset neurodegenerative disorder v1.11 ANO10 Louise Daugherty reviewed gene: ANO10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ANO10 James Polke reviewed gene: ANO10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.9 ANO10 Louise Daugherty Source NHS GMS was added to ANO10.
Adult onset neurodegenerative disorder v1.8 ANO10 Louise Daugherty Source London North GLH was added to ANO10.
Adult onset neurodegenerative disorder v0.68 ANO10 Louise Daugherty Phenotypes for gene: ANO10 were changed from Spinocerebellar ataxia, autosomal recessive 10, to Spinocerebellar ataxia, autosomal recessive 10, 613728
Adult onset neurodegenerative disorder v0.2 ANO10 Rebecca Foulger gene: ANO10 was added
gene: ANO10 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANO10 were set to Spinocerebellar ataxia, autosomal recessive 10,