Childhood onset hereditary spastic paraplegia
Gene: C12orf65Added new-gene-name tag, new approved HGNC gene symbol for C12orf65 is MTRFRCreated: 24 Feb 2021, 2:48 p.m. | Last Modified: 24 Feb 2021, 2:48 p.m.
Panel Version: 2.28
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.Created: 9 May 2019, 4:54 p.m.
Victoria: Nerve conduction studies showed decreased motor and sensory nerve conduction velocities, and sural nerve biopsy showed decreased number of large-diameter nerve fibers, onion bulb-like structures, and endoneural fibrosis. Mutations published in 3 families, Japanese brothers, 2 sibs in consanguineous family, and 3 individual from indan consanguineous family. In Sheffields HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 55,autosomal recessive,615035; optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy; Combined oxidative phosphorylation deficiency 7, 613559
Onset of SPASTIC PARAPLEGIA 55 in the first or second decadeCreated: 14 Jan 2019, 4:31 p.m.
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
Tag new-gene-name tag was added to gene: C12orf65.
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
Publications for gene: C12orf65 were set to 23188110
Source Yorkshire and North East GLH was added to C12orf65.
Source NHS GMS was added to C12orf65.
Source London North GLH was added to C12orf65.
Added phenotypes Spastic paraplegia 55, autosomal recessive, 615035 for gene: C12orf65
Arianna Tucci: Onset of SPASTIC PARAPLEGIA 55
Publications for gene: C12orf65 were set to Shimazaki et al. (2012)
Phenotypes for gene: C12orf65 were changed from Spasticparaplegia55,autosomalrecessive,615035 to Spastic paraplegia 55, autosomal recessive, 615035
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