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Childhood onset hereditary spastic paraplegia v1.151 AP4S1 Louise Daugherty Publications for gene: AP4S1 were set to 21620353
Childhood onset hereditary spastic paraplegia v1.150 AP4S1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.75 AP4S1 Louise Daugherty Source Yorkshire and North East GLH was added to AP4S1.
Childhood onset hereditary spastic paraplegia v1.74 AP4S1 Louise Daugherty commented on gene: AP4S1: 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 AP4S1 Nick Beauchamp reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 27444738, 25552650; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.48 AP4S1 Louise Daugherty reviewed gene: AP4S1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.6 AP4S1 James Polke reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 52, autosomal recessive, 614067, developmental delay, seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.5 AP4S1 Louise Daugherty Source NHS GMS was added to AP4S1.
Childhood onset hereditary spastic paraplegia v1.4 AP4S1 Louise Daugherty Source London North GLH was added to AP4S1.
Childhood onset hereditary spastic paraplegia v1.3 AP4S1 Louise Daugherty Added phenotypes developmental delay; seizures; Spastic paraplegia 52, autosomal recessive, 614067 for gene: AP4S1
Childhood onset hereditary spastic paraplegia v0.74 AP4S1 Louise Daugherty Publications for gene: AP4S1 were set to Abou Jamra et al. (2011)
Childhood onset hereditary spastic paraplegia v0.73 AP4S1 Louise Daugherty Phenotypes for gene: AP4S1 were changed from seizures; developmental delay; Spastic paraplegia 52, autosomal recessive to seizures; developmental delay; Spastic paraplegia 52, autosomal recessive, 614067
Childhood onset hereditary spastic paraplegia v0.62 AP4S1 Arianna Tucci commented on gene: AP4S1
Childhood onset hereditary spastic paraplegia v0.6 AP4S1 Sarah Leigh gene: AP4S1 was added
gene: AP4S1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4S1 were set to Abou Jamra et al. (2011)
Phenotypes for gene: AP4S1 were set to seizures; developmental delay; Spastic paraplegia 52, autosomal recessive