Skeletal muscle channelopathy

Gene: ADCY5

Red List (low evidence)

ADCY5 (adenylate cyclase 5)
EnsemblGeneIds (GRCh38): ENSG00000173175
EnsemblGeneIds (GRCh37): ENSG00000173175
OMIM: 600293, Gene2Phenotype
ADCY5 is in 12 panels

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Dyskinesia, familial, with facial myokymia, 606703

Publications

  • Chen et al 2014 Ann Neurol 75, 542-9 PMID: 24700542

History Filter Activity

25 Oct 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ADCY5 were changed from to 24700542

25 Oct 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ADCY5.

25 Oct 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene ADCY5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Dyskinesia, familial, with facial myokymia, 606703 for gene: ADCY5

25 Oct 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to ADCY5.

25 Oct 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ADCY5 was added gene: ADCY5 was added to Myotonia congenita. Sources: London North GLH Mode of inheritance for gene: ADCY5 was set to