Early onset dystonia

Gene: ADCY5

Green List (high evidence)

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

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

The phenotype is characterised by prominent choreoathetosis / dystonic movements, childhood onset. Mutations reported in more than 3 unrelated affected individuals.
Created: 27 Mar 2017, 10:39 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dyskinesia, familial, with facial myokymia, 606703; dystonia

History Filter Activity

27 Mar 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).

27 Mar 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

ADCY5 was added to Early onset dystoniapanel. Sources: Expert Review

27 Mar 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

ADCY5 was created by arianna