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Genetic epilepsy syndromes

Gene: DDC

Amber List (moderate evidence)

DDC (dopa decarboxylase)
EnsemblGeneIds (GRCh38): ENSG00000132437
EnsemblGeneIds (GRCh37): ENSG00000132437
OMIM: 107930, Gene2Phenotype
DDC is in 13 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This is a metabolic gene and is green on the Inborn errors of metabolism (https://panelapp.genomicsengland.co.uk/panels/467/gene/DDC/), therefore it is rated as amber on the Genetic epilepsy syndromes panel.
Created: 25 Aug 2020, 10:19 a.m. | Last Modified: 25 Aug 2020, 10:19 a.m.
Panel Version: 2.144

Lothar Schlueter (PTC Therapeutics)

Green List (high evidence)

Seizures are not a key symptom for aromatic L-amino acid decarboxylase deficiency (AADCD). However, some patients have seizures. Oculogyric crises, which are a key symptom, could be mistaken for epileptic seizures. In the review paper of Wassenberg et al. (2017) about 8% of AADCD patients suffer from seizures (9/117). Manegold et al. (2009) found 3 patients with seizures and corresponding EEG abnormalities in a cohort of 9 patients. They also point out, that it was difficult to discriminate seizures from oculogyric crises and paroxysmal dystonia. Another review by Brun et al. (2010) mentions abnormal EEG in 10 out of 78 patients without further detail about seizures. In recent cohort analysis they concluded that about 30% of AADCD patients have been initially diagnosed with epilepsy (Pearson et al.2020, Wen et al. 2020)
Sources: Literature

Update: Added more literature
Created: 25 Feb 2020, 1:19 p.m. | Last Modified: 19 Jun 2020, 11:02 a.m.
Panel Version: 2.93

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 Amber
Phenotypes
  • Aromatic L-amino acid decarboxylase deficiency 608643
  • floppy child
  • dystonia
  • hypotonia
  • developmental delay
  • oculogyric crisis
Tags
for-review
OMIM
107930
Clinvar variants
Variants in DDC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ddc has been classified as Amber List (Moderate Evidence).

25 Aug 2020, Gel status: 0

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: DDC.

25 Feb 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Lothar Schlueter (PTC Therapeutics)

gene: DDC was added gene: DDC was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDC were set to 28100251; 30952622; 20505134; 19172410 Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency 608643; floppy child; dystonia; hypotonia; developmental delay; oculogyric crisis Review for gene: DDC was set to GREEN