Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Childhood onset dystonia, chorea or related movement disorder v0.115 | SLC6A3 | Louise Daugherty Phenotypes for gene: SLC6A3 were changed from {Nicotine dependence, protection against}, 188890; Dopamine transporter deficiency; Parkinsonism-dystonia, infantile, 613135 to Dopamine transporter deficiency; Parkinsonism-dystonia, infantile, 613135 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.7 | SLC6A3 |
Ellen McDonagh Source PanelApp was added to SLC6A3. Mode of inheritance for gene SLC6A3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes {Nicotine dependence, protection against}, 188890; Dopamine transporter deficiency; Parkinsonism-dystonia, infantile, 613135 for gene: SLC6A3 Publications for gene SLC6A3 were changed from to 21112253; 27830117; 24613933 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.0 | NAGA |
Ellen McDonagh gene: NAGA was added gene: NAGA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NAGA was set to |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.0 | AGA |
Ellen McDonagh gene: AGA was added gene: AGA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: AGA was set to |