Brain channelopathy
Gene: ADCY5
ADCY5 (adenylate cyclase 5)
EnsemblGeneIds (GRCh38): ENSG00000173175
EnsemblGeneIds (GRCh37): ENSG00000173175
OMIM: 600293, Gene2Phenotype
ADCY5 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000173175
EnsemblGeneIds (GRCh37): ENSG00000173175
OMIM: 600293, Gene2Phenotype
ADCY5 is in 11 panels
2 reviews
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Can cause a phenotype overlapping with PNKD and PKD, as suggested by expert, Henry HouldenCreated: 21 Feb 2017, 5:13 p.m.
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
Mutations in this gene may result in a phenotype in differential with PKD and PNKDCreated: 10 Jan 2017, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Familial dyskinesia 606703
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Familial dyskinesia 606703
- OMIM
- 600293
- Clinvar variants
- Variants in ADCY5
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- DDG2P
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Paroxysmal central nervous system disorders
- Skeletal muscle channelopathy
- Adult onset neurodegenerative disorder
History Filter Activity
21 Feb 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
21 Feb 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
21 Feb 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
23 Jan 2017, Gel status: 0
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1. January 23 2017
19 Jan 2017, Gel status: 0
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been removed from the panel.
10 Jan 2017, Gel status: 0
Added New Source
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)ADCY5 was added to Brain channelopathypanel. Sources: Expert Review
10 Jan 2017, Gel status: 0
Created
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)ADCY5 was created by arianna.tucci