Likely inborn error of metabolism - targeted testing not possible
Gene: C12orf65Added new-gene-name tag, new approved HGNC gene symbol for C12orf65 is MTRFRCreated: 24 Feb 2021, 2:50 p.m. | Last Modified: 24 Feb 2021, 2:50 p.m.
Panel Version: 2.101
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 Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Spastic paraplegia 55, autosomal recessive, 615035; Combined oxidative phosphorylation deficiency 7, 613559 to Combined oxidative phosphorylation deficiency 7, OMIM:613559; Spastic paraplegia 55, autosomal recessive, OMIM:615035; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Tag new-gene-name tag was added to gene: C12orf65.
Source NHS GMS was added to C12orf65. Source London North GLH was added to C12orf65.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Spastic paraplegia 55, autosomal recessive, 615035; Combined oxidative phosphorylation deficiency 7, 613559 for gene: C12orf65 Publications for gene C12orf65 were changed from to 27604308
gene: C12orf65 was added gene: C12orf65 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C12orf65 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Spastic paraplegia 55, autosomal recessive, 615035; Combined oxidative phosphorylation deficiency 7, 613559