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Hereditary spastic paraplegia, childhood onset v2.23 AP4E1 Arina Puzriakova Phenotypes for gene: AP4E1 were changed from Spastic paraplegia 51, autosomal recessive, 613744 to Spastic paraplegia 51, autosomal recessive, OMIM:613744; Hereditary spastic paraplegia 51, MONDO:0013401
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