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Childhood onset hereditary spastic paraplegia v1.152 AP4M1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.152 AP4M1 Louise Daugherty Publications for gene: AP4M1 were set to 19559397
Childhood onset hereditary spastic paraplegia v1.75 AP4M1 Louise Daugherty Source Yorkshire and North East GLH was added to AP4M1.
Childhood onset hereditary spastic paraplegia v1.74 AP4M1 Louise Daugherty commented on gene: AP4M1: 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.
Childhood onset hereditary spastic paraplegia v1.73 AP4M1 Nick Beauchamp reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19559397, 24700674, 29096665; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.48 AP4M1 Louise Daugherty reviewed gene: AP4M1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.6 AP4M1 James Polke reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 50, autosomal recessive, 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.5 AP4M1 Louise Daugherty Source NHS GMS was added to AP4M1.
Childhood onset hereditary spastic paraplegia v1.4 AP4M1 Louise Daugherty Source London North GLH was added to AP4M1.
Childhood onset hereditary spastic paraplegia v1.3 AP4M1 Louise Daugherty Added phenotypes Spastic paraplegia 50, autosomal recessive, 612936 for gene: AP4M1
Childhood onset hereditary spastic paraplegia v0.72 AP4M1 Louise Daugherty Publications for gene: AP4M1 were set to Verkerk et al. (2009)
Childhood onset hereditary spastic paraplegia v0.71 AP4M1 Louise Daugherty Phenotypes for gene: AP4M1 were changed from Spastic paraplegia 50, autosomal recessive to Spastic paraplegia 50, autosomal recessive, 612936
Childhood onset hereditary spastic paraplegia v0.62 AP4M1 Arianna Tucci commented on gene: AP4M1
Childhood onset hereditary spastic paraplegia v0.6 AP4M1 Sarah Leigh gene: AP4M1 was added
gene: AP4M1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4M1 were set to Verkerk et al. (2009)
Phenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive