Cerebral Palsy
Gene: DDC
DDC (dopa decarboxylase)
EnsemblGeneIds (GRCh38): ENSG00000132437
EnsemblGeneIds (GRCh37): ENSG00000132437
OMIM: 107930, Gene2Phenotype
DDC is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000132437
EnsemblGeneIds (GRCh37): ENSG00000132437
OMIM: 107930, Gene2Phenotype
DDC is in 15 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: Phenotypic overlap with CP: ID and movement disordersCreated: 21 Sep 2021, 2:58 a.m. | Last Modified: 21 Sep 2021, 2:58 a.m.
Panel Version: 0.114
Danielle Ariti (University of Melbourne)
Single case reported in CP cohort with Dystonic cerebral palsy.
Multiple AADCD cases reported as CP- mimics due to phenotype overlap: dystonia and developmental delay.
AADCD being is an inborn error in neurotransmitter metabolism disorder that leads to combined serotonin and catecholamine deficiency. Clinically characterised by vegetative symptoms, oculogyric crises, dystonia, and severe neurologic dysfunction (infancy/ early childhood); displays CP-like features.
Sources: Expert listCreated: 21 Sep 2021, 2:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aromatic L-amino acid decarboxylase deficiency MIM# 608643
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Aromatic L-amino acid decarboxylase deficiency MIM# 608643
- OMIM
- 107930
- Clinvar variants
- Variants in DDC
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Early-onset Parkinson disease
- Neurotransmitter Defects
- Regression
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- Mendeliome
- Prepair 500+
- Callosome
- Cerebral Palsy
History Filter Activity
21 Sep 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ddc has been classified as Green List (High Evidence).
21 Sep 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ddc has been classified as Green List (High Evidence).
21 Sep 2021, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Danielle Ariti (University of Melbourne)gene: DDC was added gene: DDC was added to Cerebral Palsy. Sources: Expert list Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDC were set to 33528536; 30799092; 33996177 Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency MIM# 608643 Review for gene: DDC was set to AMBER