Genomics England
GMS Panels
Panels
Genes and Entities

ADCY5

adenylate cyclase 5
OMIM: 600293
PanelMode of inheritanceDetails
4 panels
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 8.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dyskinesia with orofacial involvement, autosomal dominant, OMIM:606703, dyskinesia with orofacial involvement, autosomal dominant, MONDO:0800028, Dyskinesia with orofacial involvement, autosomal recessive, OMIM:619647, dyskinesia with orofacial involvement, autosomal recessive, MONDO:0030625, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, OMIM:619651, neurodevelopmental disorder with hyperkinetic movements and dyskinesia, MONDO:0859211
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ADCY5-related developmental disorder (monoallelic)
Green
in Hereditary ataxia with onset in adulthood
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Familial dyskinesia 606703, Dyskinesia with facial myokymia
Green
in Paroxysmal central nervous system disorders
R-numbers: R66
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial dyskinesia 606703, Dyskinesia, familial, with facial myokymia, 606703