Activity

Filter

Cancel
Date Panel Item Activity
14 actions
Hereditary spastic paraplegia - childhood onset v1.153 AP4E1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - childhood onset v1.153 AP4E1 Louise Daugherty Publications for gene: AP4E1 were set to 20972249
Hereditary spastic paraplegia - childhood onset v1.75 AP4E1 Louise Daugherty Source Yorkshire and North East GLH was added to AP4E1.
Hereditary spastic paraplegia - childhood onset v1.74 AP4E1 Louise Daugherty commented on gene: AP4E1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - childhood onset v1.73 AP4E1 Nick Beauchamp reviewed gene: AP4E1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 23472171; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - childhood onset v1.48 AP4E1 Louise Daugherty reviewed gene: AP4E1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - childhood onset v1.6 AP4E1 James Polke reviewed gene: AP4E1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 51, autosomal recessive, 613744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - childhood onset v1.5 AP4E1 Louise Daugherty Source NHS GMS was added to AP4E1.
Hereditary spastic paraplegia - childhood onset v1.4 AP4E1 Louise Daugherty Source London North GLH was added to AP4E1.
Hereditary spastic paraplegia - childhood onset v1.3 AP4E1 Louise Daugherty Added phenotypes Spastic paraplegia 51, autosomal recessive, 613744 for gene: AP4E1
Hereditary spastic paraplegia - childhood onset v0.70 AP4E1 Louise Daugherty Phenotypes for gene: AP4E1 were changed from Spastic paraplegia 51, autosomal recessive to Spastic paraplegia 51, autosomal recessive, 613744
Hereditary spastic paraplegia - childhood onset v0.69 AP4E1 Louise Daugherty Publications for gene: AP4E1 were set to Moreno-De-Luca et al. (2011)
Hereditary spastic paraplegia - childhood onset v0.62 AP4E1 Arianna Tucci commented on gene: AP4E1
Hereditary spastic paraplegia - childhood onset v0.6 AP4E1 Sarah Leigh gene: AP4E1 was added
gene: AP4E1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4E1 were set to Moreno-De-Luca et al. (2011)
Phenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive