Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Possible mitochondrial disorder - nuclear genes v3.16 | NADK2 | Arina Puzriakova Phenotypes for gene: NADK2 were changed from ?2,4-dienoyl-CoA reductase deficiency, 616034 to 2,4-dienoyl-CoA reductase deficiency, OMIM:616034 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Possible mitochondrial disorder - nuclear genes v0.5 | NADK2 | Ivone Leong reviewed gene: NADK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29388319; Phenotypes: ?2,4-dienoyl-CoA reductase deficiency, 616034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Possible mitochondrial disorder - nuclear genes v0.2 | NADK2 |
Ivone Leong gene: NADK2 was added gene: NADK2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NADK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NADK2 were set to 29388319 Phenotypes for gene: NADK2 were set to ?2,4-dienoyl-CoA reductase deficiency, 616034 |