Activity

Filter

Cancel
Date Panel Item Activity
13 actions
Adult onset neurodegenerative disorder v1.106 ATL1 Louise Daugherty edited their review of gene: ATL1: 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 ATL1 Louise Daugherty Source Expert Review Red was added to ATL1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.101 ATL1 Louise Daugherty commented on gene: ATL1: 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 ATL1 Louise Daugherty Source Wessex and West Midlands GLH was added to ATL1.
Adult onset neurodegenerative disorder v1.99 ATL1 Tracy Lester reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 3A, autosomal dominant,, Spastic Paraplegia, Dominant, Spastic paraplegia 3A, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.74 ATL1 Louise Daugherty commented on gene: ATL1: 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 ATL1 Nick Beauchamp reviewed gene: ATL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 3A, autosomal dominant,, Spastic Paraplegia, Dominant, Spastic paraplegia 3A, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.67 ATL1 Louise Daugherty Source Yorkshire and North East GLH was added to ATL1.
Adult onset neurodegenerative disorder v1.11 ATL1 Louise Daugherty reviewed gene: ATL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ATL1 James Polke reviewed gene: ATL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.9 ATL1 Louise Daugherty Source NHS GMS was added to ATL1.
Adult onset neurodegenerative disorder v1.8 ATL1 Louise Daugherty Source London North GLH was added to ATL1.
Adult onset neurodegenerative disorder v0.2 ATL1 Rebecca Foulger gene: ATL1 was added
gene: ATL1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATL1 were set to PMID: 11685207
Phenotypes for gene: ATL1 were set to Spastic paraplegia 3A, autosomal dominant,; Spastic Paraplegia, Dominant; Spastic paraplegia 3A, autosomal dominant