Activity

Filter

Cancel
Date Panel Item Activity
13 actions
Neurodegenerative disorders - adult onset v1.109 AP5Z1 Louise Daugherty commented on gene: AP5Z1: Prior to GLH sign off for this panel, AP5Z1 was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to keep this gene rated as Amber because there can be Parkinsonism and cognitive impairment, but not Green as not primary phenotype.
Neurodegenerative disorders - adult onset v1.106 AP5Z1 Louise Daugherty commented on gene: AP5Z1: 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
Neurodegenerative disorders - adult onset v1.105 AP5Z1 Louise Daugherty Source Expert Review Amber was added to AP5Z1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Neurodegenerative disorders - adult onset v1.74 AP5Z1 Louise Daugherty commented on gene: AP5Z1: 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.
Neurodegenerative disorders - adult onset v1.72 AP5Z1 Nick Beauchamp reviewed gene: AP5Z1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic Paraplegia, Recessive, Spastic paraplegia 48, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.67 AP5Z1 Louise Daugherty Source Yorkshire and North East GLH was added to AP5Z1.
Neurodegenerative disorders - adult onset v1.15 AP5Z1 Louise Daugherty Classified gene: AP5Z1 as Green List (high evidence)
Neurodegenerative disorders - adult onset v1.15 AP5Z1 Louise Daugherty Gene: ap5z1 has been classified as Green List (High Evidence).
Neurodegenerative disorders - adult onset v1.7 AP5Z1 Louise Daugherty reviewed gene: AP5Z1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.6 AP5Z1 Anthony Dallosso reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic Paraplegia, Recessive, Spastic paraplegia 48, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.5 AP5Z1 Louise Daugherty Source NHS GMS was added to AP5Z1.
Neurodegenerative disorders - adult onset v1.4 AP5Z1 Louise Daugherty Source South West GLH was added to AP5Z1.
Neurodegenerative disorders - adult onset v0.2 AP5Z1 Rebecca Foulger gene: AP5Z1 was added
gene: AP5Z1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP5Z1 were set to Slabicki et al. (2010) i
Phenotypes for gene: AP5Z1 were set to Spastic Paraplegia, Recessive; Spastic paraplegia 48, autosomal recessive