Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Childhood onset dystonia, chorea or related movement disorder v0.7 | NDUFAF6 |
Ellen McDonagh Source PanelApp was added to NDUFAF6. Mode of inheritance for gene NDUFAF6 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency 256000 for gene: NDUFAF6 Publications for gene NDUFAF6 were changed from to 27623250; 26741492; 18614015 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.0 | NDUFAF6 |
Ellen McDonagh gene: NDUFAF6 was added gene: NDUFAF6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: NDUFAF6 was set to |