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Likely inborn error of metabolism v2.175 C12orf65 Arina Puzriakova 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)
Likely inborn error of metabolism v2.101 C12orf65 Catherine Snow commented on gene: C12orf65
Likely inborn error of metabolism v2.101 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Likely inborn error of metabolism v1.47 C12orf65 Ivone Leong Source NHS GMS was added to C12orf65.
Source London North GLH was added to C12orf65.
Likely inborn error of metabolism v0.4 C12orf65 Ellen McDonagh 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
Likely inborn error of metabolism v0.4 C12orf65 Ellen McDonagh 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