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Childhood onset hereditary spastic paraplegia v2.72 C12orf65 Arina Puzriakova Phenotypes for gene: C12orf65 were changed from Spastic paraplegia 55, autosomal recessive, 615035; optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy; Combined oxidative phosphorylation deficiency 7, 613559 to Spastic paraplegia 55, autosomal recessive, OMIM:615035
Childhood onset hereditary spastic paraplegia v2.28 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Childhood onset hereditary spastic paraplegia v2.28 C12orf65 Catherine Snow commented on gene: C12orf65
Childhood onset hereditary spastic paraplegia v1.145 C12orf65 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.145 C12orf65 Louise Daugherty Phenotypes for gene: C12orf65 were changed from Spastic paraplegia 55, autosomal recessive, 615035 to Spastic paraplegia 55, autosomal recessive, 615035; optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy; Combined oxidative phosphorylation deficiency 7, 613559
Childhood onset hereditary spastic paraplegia v1.144 C12orf65 Louise Daugherty Publications for gene: C12orf65 were set to 23188110
Childhood onset hereditary spastic paraplegia v1.75 C12orf65 Louise Daugherty Source Yorkshire and North East GLH was added to C12orf65.
Childhood onset hereditary spastic paraplegia v1.74 C12orf65 Louise Daugherty commented on gene: C12orf65: 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 C12orf65 Nick Beauchamp reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: 23188110, 24424123; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.48 C12orf65 Louise Daugherty reviewed gene: C12orf65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.6 C12orf65 James Polke reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 55,autosomal recessive,615035, optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy, Combined oxidative phosphorylation deficiency 7, 613559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.5 C12orf65 Louise Daugherty Source NHS GMS was added to C12orf65.
Childhood onset hereditary spastic paraplegia v1.4 C12orf65 Louise Daugherty Source London North GLH was added to C12orf65.
Childhood onset hereditary spastic paraplegia v1.3 C12orf65 Louise Daugherty Added phenotypes Spastic paraplegia 55, autosomal recessive, 615035 for gene: C12orf65
Childhood onset hereditary spastic paraplegia v0.84 C12orf65 Louise Daugherty Publications for gene: C12orf65 were set to Shimazaki et al. (2012)
Childhood onset hereditary spastic paraplegia v0.83 C12orf65 Louise Daugherty Phenotypes for gene: C12orf65 were changed from Spasticparaplegia55,autosomalrecessive,615035 to Spastic paraplegia 55, autosomal recessive, 615035
Childhood onset hereditary spastic paraplegia v0.62 C12orf65 Arianna Tucci commented on gene: C12orf65
Childhood onset hereditary spastic paraplegia v0.6 C12orf65 Sarah Leigh gene: C12orf65 was added
gene: C12orf65 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C12orf65 were set to Shimazaki et al. (2012)
Phenotypes for gene: C12orf65 were set to Spasticparaplegia55,autosomalrecessive,615035