ADCY5

adenylate cyclase 5
OMIM: 600293
PanelMode of inheritanceDetails
4 panels
R-numbers: R57
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dyskinesia, familial, with facial myokymia, 606703, dystonia, Familial dyskinesia, 606703
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ADCY5-related developmental disorder (monoallelic)
R-numbers: R54
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Familial dyskinesia 606703, Dyskinesia with facial myokymia
R-numbers: R66
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial dyskinesia 606703, Dyskinesia, familial, with facial myokymia, 606703