Skeletal Muscle Channelopathies
Gene: ADCY5EnsemblGeneIds (GRCh38): ENSG00000173175
EnsemblGeneIds (GRCh37): ENSG00000173175
OMIM: 600293, Gene2Phenotype
ADCY5 is in 11 panels
4 reviews
Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)
Variants in this GENE are reported as part of current diagnostic practice
Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)
Variants in this GENE are reported as part of current diagnostic practice
Arianna Tucci (Genomics England Curator)
can resemble skeletal muscle channelopathiesCreated: 2 Feb 2017, 3:42 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dyskinesia, familial, with facial myokymia 606703
Ellen McDonagh (Genomics England Curator)
This gene is not mentioned in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 2:53 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Dyskinesia, familial, with facial myokymia, 606703
- OMIM
- 600293
- Clinvar variants
- Variants in ADCY5
- Penetrance
- Complete
- Panels with this gene
-
- 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
- Intellectual disability
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Paroxysmal central nervous system disorders
- Skeletal muscle channelopathy
- Adult onset neurodegenerative disorder
History Filter Activity
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ADCY5 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ADCY5 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)ADCY5 was added to Skeletal Muscle Channelopathiespanel. Sources: Radboud University Medical Center, Nijmegen