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  3. ADCY5
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Genetic Epilepsy

Gene: ADCY5

Red List (low evidence)
ADCY5 (adenylate cyclase 5)
EnsemblGeneIds (GRCh38): ENSG00000173175
EnsemblGeneIds (GRCh37): ENSG00000173175
OMIM: 600293, Gene2Phenotype
ADCY5 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

I think limited evidence for association with epilepsy.
Created: 4 Dec 2023, 9:08 a.m. | Last Modified: 4 Dec 2023, 9:08 a.m.
Panel Version: 0.1967

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Dyskinesia with orofacial involvement MIM#606703

Created: 4 Dec 2023, 9:08 a.m.
Last Modified: 4 Dec 2023, 9:08 a.m.
Panel version: 0.1967

John Coleman (Murdoch Children's Research Institute)

I don't know

AD and AR dyskinesia phenotype. Only one confirmed case of epilepsy of 119 cases, 2 suspected but unconfirmed. Strong dyskinesia phenotype that may have similar overlapping features. Epilepsy/ seizures not a reported phenotype on OMIM. No other cases reported on literature search. Gene not curated on ClinGen. Dystonia, myoclonus and choreoathetosis the predominant phenotype (gene included in Mediliome, CP, channelopathies, dystonia and dyskinesia panels). Caution regarding overlap of epilepsy features and phenotyping but appears to have distinct dyskinesia phenotype. ?Moderate Vs limited evidence.
Sources: Literature
Created: 4 Dec 2023, 12:35 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

Created: 4 Dec 2023, 12:35 a.m.

Panel version: 0.1950

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Dyskinesia with orofacial involvement MIM#606703
OMIM
600293
Clinvar variants
Variants in ADCY5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adcy5 has been classified as Red List (Low Evidence).

4 Dec 2023, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ADCY5 were changed from to Dyskinesia with orofacial involvement MIM#606703

4 Dec 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adcy5 has been classified as Red List (Low Evidence).

4 Dec 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications

John Coleman (Murdoch Children's Research Institute)

gene: ADCY5 was added gene: ADCY5 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: ADCY5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ADCY5 were set to (PMID: 36003298; 33564903; 27061943) Review for gene: ADCY5 was set to AMBER