Skeletal Muscle Channelopathies

Gene: ADCY5

Green List (high evidence)

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

4 reviews

Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

can resemble skeletal muscle channelopathies
Created: 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.

History Filter Activity

30 Mar 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for ADCY5 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

30 Mar 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for ADCY5 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Feb 2017, Gel status: 4

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.

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).

7 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

ADCY5 was added to Skeletal Muscle Channelopathiespanel. Sources: Radboud University Medical Center, Nijmegen