Childhood onset hereditary spastic paraplegia
Gene: C12orf65EnsemblGeneIds (GRCh38): ENSG00000130921
EnsemblGeneIds (GRCh37): ENSG00000130921
OMIM: 613541, Gene2Phenotype
C12orf65 is in 17 panels
5 reviews
Catherine Snow (Genomics England)
Added 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
Louise Daugherty (Genomics England Curator)
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.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
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
Arianna Tucci (Genomics England Curator)
Onset of SPASTIC PARAPLEGIA 55 in the first or second decadeCreated: 14 Jan 2019, 4:31 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Expert list
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Spastic paraplegia 55, autosomal recessive, OMIM:615035
- Tags
- OMIM
- 613541
- Clinvar variants
- Variants in C12orf65
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Mitochondrial disorders
- Retinal disorders
- DDG2P
- Optic neuropathy
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary neuropathy or pain disorder
- Possible mitochondrial disorder - nuclear genes
- Hereditary spastic paraplegia
- Arthrogryposis
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Added Tag
Catherine Snow (Genomics England)Tag new-gene-name tag was added to gene: C12orf65.
Set Phenotypes
Louise Daugherty (Genomics England Curator)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
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: C12orf65 were set to 23188110
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to C12orf65.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to C12orf65.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to C12orf65.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Spastic paraplegia 55, autosomal recessive, 615035 for gene: C12orf65
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Arianna Tucci: Onset of SPASTIC PARAPLEGIA 55
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: C12orf65 were set to Shimazaki et al. (2012)
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: C12orf65 were changed from Spasticparaplegia55,autosomalrecessive,615035 to Spastic paraplegia 55, autosomal recessive, 615035
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)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