Possible mitochondrial disorder - nuclear genes
Gene: C12orf65EnsemblGeneIds (GRCh38): ENSG00000130921
EnsemblGeneIds (GRCh37): ENSG00000130921
OMIM: 613541, Gene2Phenotype
C12orf65 is in 17 panels
4 reviews
Catherine Snow (Genomics England)
Added new-gene-name tag, new approved HGNC gene symbol for C12orf65 is MTRFRCreated: 24 Feb 2021, 2:51 p.m. | Last Modified: 24 Feb 2021, 2:51 p.m.
Panel Version: 1.37
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 7, 613559; Spastic paraplegia 55, autosomal recessive, 615035
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed on OMIM and G2P.Created: 26 Feb 2016, 1:45 p.m.
Comment on list classification: Green review from expert, and a confirmed DD gene for combined oxidative phosphorylation deficiency 7.
Created: 26 Feb 2016, 1:45 p.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 7, OMIM:613559
- Spastic paraplegia 55, autosomal recessive, OMIM:615035
- Tags
- OMIM
- 613541
- Clinvar variants
- Variants in C12orf65
- Penetrance
- None
- Panels with this gene
-
- Hereditary neuropathy
- Mitochondrial disorders
- DDG2P
- Optic neuropathy
- Intellectual disability
- Adult onset neurodegenerative disorder
- Retinal disorders
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Hereditary spastic paraplegia
- Arthrogryposis
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- 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 Combined oxidative phosphorylation deficiency 7, 613559; Spastic paraplegia 55, autosomal recessive, 615035 to Combined oxidative phosphorylation deficiency 7, OMIM:613559; Spastic paraplegia 55, autosomal recessive, OMIM:615035
Added Tag
Catherine Snow (Genomics England)Tag new-gene-name tag was added to gene: C12orf65.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: C12orf65 was added gene: C12orf65 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C12orf65 were set to Combined oxidative phosphorylation deficiency 7, 613559; Spastic paraplegia 55, autosomal recessive, 615035