Mitochondrial disorders
Gene: C12orf65Added new-gene-name tag, new approved HGNC gene symbol for C12orf65 is MTRFRCreated: 24 Feb 2021, 2:52 p.m. | Last Modified: 24 Feb 2021, 2:52 p.m.
Panel Version: 2.19
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.
Phenotypes for gene: C12orf65 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); 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
Tag new-gene-name tag was added to gene: C12orf65.
Victorian Clinical Genetics Services was added to C12orf65. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for C12orf65 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 7, 613559; Spastic paraplegia 55, autosomal recessive, 615035
Mode of inheritance for C12orf65 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
C12orf65 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
C12orf65 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
C12orf65 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen