Early onset dystonia
Gene: DDCEnsemblGeneIds (GRCh38): ENSG00000132437
EnsemblGeneIds (GRCh37): ENSG00000132437
OMIM: 107930, Gene2Phenotype
DDC is in 11 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Upgraded rating from Red to Green, in line with the review by Lothar Schlueter. Dystonia as a feature of the phenotype, most commonly arising in infancy. DDC is already Green on the GMS 'Childhood onset dystonia or chorea or related movement disorder' version 1.62 panel.Created: 20 Nov 2020, 3:43 p.m. | Last Modified: 20 Nov 2020, 3:43 p.m.
Panel Version: 1.82
Lothar Schlueter (PTC Therapeutics)
Dystonia has been reported as one of the key symptoms in patients with aromatic L-amino acid decarboxylase deficiency (AADCD) (63/117 patients, 54%, Wassenberg et al. 2017). Although it was not possible to describe the precise age of onset and duration for every symptom, the best available data suggest dystonia to be a key symptom from infancy onwards (Wassenberg et al. 2017). In children with dystonia (and other symptoms like hypotonia), other movement disorders (especially oculogyric crisis), developmental delay, and autonomic symptoms, AADCD should be considered. So far, in 123 known patients, 79 disease-causing variants in the DDC gene have been described and listed in the locus specific database PNDdb (http://biopku.org/home/pnddb.asp) (Himmelreich, 2019).Created: 25 Feb 2020, 1:11 p.m. | Last Modified: 25 Feb 2020, 1:11 p.m.
Panel Version: 1.81
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aromatic L-amino acid decarboxylase deficiency 608643; floppy child; dystonia; hypotonia; developmental delay; oculogyric crisis
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Aromatic L-amino acid decarboxylase deficiency, OMIM:608643
- Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
- Floppy child
- Dystonia
- Hypotonia
- Developmental delay
- Oculogyric crisis
- OMIM
- 107930
- Clinvar variants
- Variants in DDC
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Neurotransmitter disorders
- Likely inborn error of metabolism
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Fetal anomalies
- DDG2P
- Early onset or syndromic epilepsy
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: DDC were changed from Dystonia to Aromatic L-amino acid decarboxylase deficiency, OMIM:608643; Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084; Floppy child; Dystonia; Hypotonia; Developmental delay; Oculogyric crisis
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: DDC were set to
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: DDC was changed from to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: ddc has been classified as Green List (High Evidence).
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
Added New Source
GEL ()DDC was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory