Brain channelopathy

Gene: ADCY5

Green List (high evidence)

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

2 reviews

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Can cause a phenotype overlapping with PNKD and PKD, as suggested by expert, Henry Houlden
Created: 21 Feb 2017, 5:13 p.m.

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Green List (high evidence)

Mutations in this gene may result in a phenotype in differential with PKD and PNKD
Created: 10 Jan 2017, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Familial dyskinesia 606703

Publications

History Filter Activity

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).

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).

23 Jan 2017, Gel status: 0

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1. January 23 2017

19 Jan 2017, Gel status: 0

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been removed from the panel.

10 Jan 2017, Gel status: 0

Added New Source

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

ADCY5 was added to Brain channelopathypanel. Sources: Expert Review

10 Jan 2017, Gel status: 0

Created

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

ADCY5 was created by arianna.tucci