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Possible mitochondrial disorder - nuclear genes v1.53 | C12orf65 | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Possible mitochondrial disorder - nuclear genes v1.37 | C12orf65 | Catherine Snow Tag new-gene-name tag was added to gene: C12orf65. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Possible mitochondrial disorder - nuclear genes v1.37 | C12orf65 | Catherine Snow commented on gene: C12orf65 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Possible mitochondrial disorder - nuclear genes v0.5 | C12orf65 | Ivone Leong reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 7, 613559, Spastic paraplegia 55, autosomal recessive, 615035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Possible mitochondrial disorder - nuclear genes v0.2 | C12orf65 |
Ivone Leong 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 |