Hereditary ataxia with onset in adulthood
Gene: ADCY5

ADCY5 (adenylate cyclase 5)
EnsemblGeneIds (GRCh38): ENSG00000173175
EnsemblGeneIds (GRCh37): ENSG00000173175
OMIM: 600293, Gene2Phenotype
ADCY5 is in 11 panels

3 reviews

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

Green List (high evidence)

22 DM in HGMD. Phenotype is relevant.
Created: 27 Apr 2019, 7:39 p.m.

Created: 27 Apr 2019, 7:39 p.m.

Panel version: 1.11

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group

Created: 27 Apr 2019, 8:55 p.m.

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.14

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Multiple families reported in literature - seems to be a 'movement disorder' rather than true ataxia, probably worth inclusion
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dyskinesia with facial myokymia

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

London North GLH
NHS GMS
Wessex and West Midlands GLH
Expert Review Green
Brain channelopathy v1.46

Phenotypes

Familial dyskinesia 606703
Dyskinesia with facial myokymia

OMIM

600293

Clinvar variants

Variants in ADCY5

Penetrance

None

Publications

Panels with this gene