Cerebral Palsy
Gene: ADCY5EnsemblGeneIds (GRCh38): ENSG00000173175
EnsemblGeneIds (GRCh37): ENSG00000173175
OMIM: 600293, Gene2Phenotype
ADCY5 is in 7 panels
1 review
Luisa Mackenroth (University of Adelaide)
Multiple individuals reported in two different cohort studies analyzing children diagnosed with CP. Clinical overlap with childhood onset dystonia likely. Reported mutations in CP patients indicate gain-of-function mechanism, but loss-of-function mechanism has been described for allelic mutations.
Sources: LiteratureCreated: 16 May 2023, 4:37 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dyskinesia with orofacial involvement MIM#606703
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Dyskinesia with orofacial involvement MIM#606703
- OMIM
- 600293
- Clinvar variants
- Variants in ADCY5
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adcy5 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adcy5 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Luisa Mackenroth (University of Adelaide)gene: ADCY5 was added gene: ADCY5 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ADCY5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ADCY5 were set to 33528536; 33098801 Phenotypes for gene: ADCY5 were set to Dyskinesia with orofacial involvement MIM#606703 Mode of pathogenicity for gene: ADCY5 was set to Other Review for gene: ADCY5 was set to GREEN