This Panel is marked as Internal
Dystonia - childhood onset
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
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- dystonia
- Familial dyskinesia 606703
- Dyskinesia, familial, with facial myokymia, 606703
- OMIM
- 600293
- Clinvar variants
- Variants in ADCY5
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Intellectual disability
- DDG2P
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Skeletal muscle channelopathy
- Paroxysmal central nervous system disorders
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: ADCY5 was added gene: ADCY5 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: ADCY5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ADCY5 were set to 11310626; 24700542 Phenotypes for gene: ADCY5 were set to dystonia; Familial dyskinesia 606703; Dyskinesia, familial, with facial myokymia, 606703