This Panel is marked as Internal
Gene therapy clinical trials
Gene: DDC
DDC (dopa decarboxylase)
EnsemblGeneIds (GRCh38): ENSG00000132437
EnsemblGeneIds (GRCh37): ENSG00000132437
OMIM: 107930, Gene2Phenotype
DDC is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000132437
EnsemblGeneIds (GRCh37): ENSG00000132437
OMIM: 107930, Gene2Phenotype
DDC is in 11 panels
2 reviews
Eleanor Williams (Genomics England Curator)
Comment on list classification: Making green on recommendation of reviewer.Created: 30 Sep 2025, 4:07 p.m. | Last Modified: 30 Sep 2025, 4:07 p.m.
Panel Version: 0.12
vardha ismail (Wessex Regional Genetics Service)
Recently, the putaminally-delivered construct, Eladocagene exuparvovec has been approved by the European Medicines Agency and by the British Medicines and Healthcare products Regulatory Agency. This now available gene therapy provides for the first time also for AADC deficiency (AADCD) a causal therapy, leading this disorder into a new therapeutic era.
Delivered by Great Ormond Street HospitalCreated: 19 Dec 2023, 3:02 p.m. | Last Modified: 19 Dec 2023, 3:02 p.m.
Panel Version: 0.9
Phenotypes
Ptosis, Oculogyric crises, Poor feeding, Developmental delay, Truncal hypotonia, Limb dystonia, Orofacial dystonia, Autonomic abnormalities excessive sweating
Publications
- PMID: 37402126
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- OMIM
- 107930
- Clinvar variants
- Variants in DDC
- Penetrance
- Complete
- Publications
-
- PMID: 37402126.
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Neurotransmitter disorders
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Fetal anomalies
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
History Filter Activity
30 Sep 2025, Gel status: 3
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: ddc has been classified as Green List (High Evidence).
19 Dec 2023, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set penetrance
vardha ismail (Wessex Regional Genetics Service)gene: DDC was added gene: DDC was added to Gene therapy clinical trials. Sources: Other Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDC were set to PMID: 37402126. Penetrance for gene: DDC were set to Complete