ADCY5

adenylate cyclase 5
OMIM: 600293, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green ADCY5 in Skeletal Muscle Channelopathies Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.48	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Dyskinesia, familial, with facial myokymia, 606703
Green ADCY5 in Brain channelopathy Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Familial dyskinesia 606703
Green ADCY5 in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.152	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Dyskinesia, familial, with facial myokymia, 606703 dystonia
Green ADCY5 in Paroxysmal central nervous system disorders Level 2: Neurology Version 4.2 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS London North GLH Wessex and West Midlands GLH Phenotypes Familial dyskinesia 606703 Dyskinesia, familial, with facial myokymia, 606703
Red ADCY5 in Skeletal muscle channelopathy Level 2: Neurology Version 3.8 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Red London North GLH Phenotypes Dyskinesia, familial, with facial myokymia, 606703
Red ADCY5 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes dystonia Familial dyskinesia 606703 Dyskinesia, familial, with facial myokymia, 606703
Green ADCY5 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ADCY5-related developmental disorder (monoallelic)
Amber ADCY5 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, OMIM:619651 neurodevelopmental disorder with hyperkinetic movements and dyskinesia, MONDO:0859211
Green ADCY5 in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Brain channelopathy v1.46 Phenotypes Familial dyskinesia 606703 Dyskinesia with facial myokymia
Red ADCY5 in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.3 Latest signed off version: v5.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS London North GLH Phenotypes dystonia Familial dyskinesia 606703 Dyskinesia, familial, with facial myokymia, 606703
Green ADCY5 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources PanelApp Expert Review Green London North GLH 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 Tags Q3_25_MOI