Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Childhood onset dystonia, chorea or related movement disorder v0.7 | NDUFS3 |
Ellen McDonagh Source PanelApp was added to NDUFS3. Added phenotypes Mitochondrial complex I deficiency 252010; Leigh syndrome due to mitochondrial complex I deficiency 256000 for gene: NDUFS3 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.1 | NDUFS3 |
Ellen McDonagh Source South West GLH was added to NDUFS3. Mode of inheritance for gene NDUFS3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial complex I deficiency, nuclear type 8, 618230 for gene: NDUFS3 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.0 | NDUFS3 |
Ellen McDonagh gene: NDUFS3 was added gene: NDUFS3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NDUFS3 was set to |