Early onset dystonia
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
1 review
Arianna Tucci (Genomics England Curator)
The phenotype is characterised by prominent choreoathetosis / dystonic movements, childhood onset. Mutations reported in more than 3 unrelated affected individuals.Created: 27 Mar 2017, 10:39 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dyskinesia, familial, with facial myokymia, 606703; dystonia
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Dyskinesia, familial, with facial myokymia, 606703
- dystonia
- OMIM
- 600293
- Clinvar variants
- Variants in ADCY5
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Adult onset neurodegenerative disorder
- Paroxysmal central nervous system disorders
- Skeletal muscle channelopathy
- Intellectual disability
History Filter Activity
27 Mar 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).
27 Mar 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)ADCY5 was added to Early onset dystoniapanel. Sources: Expert Review
27 Mar 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)ADCY5 was created by arianna