Dystonia - complex
Gene: DDCEnsemblGeneIds (GRCh38): ENSG00000132437
EnsemblGeneIds (GRCh37): ENSG00000132437
OMIM: 107930, Gene2Phenotype
DDC is in 15 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
The disorder is characterised by severe neurological dysfunction, dystonia, oculogyric crises along with AADC deficiency. Disease onset is typically in infancy or childhood.
Classified as Definitive by ClinGen General IEM GCEP on 25/02/2022 - https://search.clinicalgenome.org/CCID:004632
There is a common founder variant reported in Taiwanese and Chinese population (c.714+4A>T)
PMID: 20505134
Dystonia was present in 53% of the reported individuals with AADC deficiency.
>5 unrelated individuals reported with different variants in DDC either in homozygous or compound heterozygous state.Created: 6 Dec 2024, 5:27 a.m. | Last Modified: 6 Dec 2024, 5:27 a.m.
Panel Version: 0.242
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
aromatic L-amino acid decarboxylase deficiency MONDO:0012084
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Aromatic L-amino acid decarboxylase deficiency, 608643
- Dystonia
- Tags
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ddc has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: DDC were set to
Added Tag, Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: DDC. Tag clinical trial tag was added to gene: DDC.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: DDC was added gene: DDC was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency, 608643; Dystonia