1. Panels
  2. Early-onset Parkinson disease
  3. DDC
Regions in panel
Prev Next

Early-onset Parkinson disease

Gene: DDC

Amber List (moderate evidence)
DDC (dopa decarboxylase)
EnsemblGeneIds (GRCh38): ENSG00000132437
EnsemblGeneIds (GRCh37): ENSG00000132437
OMIM: 107930, Gene2Phenotype
DDC is in 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Limited phenotypic overlap: oculogyric crises are a rare feature of PD.
Created: 20 Jul 2022, 2:33 a.m. | Last Modified: 20 Jul 2022, 2:33 a.m.
Panel Version: 0.201

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aromatic L-amino acid decarboxylase deficiency, MIM# 608643

Created: 20 Jul 2022, 2:33 a.m.
Last Modified: 20 Jul 2022, 2:33 a.m.
Panel version: 0.201

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 17 Jul 2022, 9:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aromatic L-amino acid decarboxylase deficiency (DYT-DDC); Infantile-onset parkinsonism & dystonia; Bulbar dysfunction; Oculogyric crisis; Autonomic dysfunction; Intellectual disability; OMIM 608603

Publications

Created: 17 Jul 2022, 9:27 p.m.

Panel version: 0.134

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Aromatic L-amino acid decarboxylase deficiency, MIM# 608643
  • Infantile-onset parkinsonism & dystonia
  • Bulbar dysfunction
  • Oculogyric crisis
  • Autonomic dysfunction
  • Intellectual disability
OMIM
107930
Clinvar variants
Variants in DDC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Jul 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DDC were changed from Aromatic L-amino acid decarboxylase deficiency (DYT-DDC); Infantile-onset parkinsonism & dystonia; Bulbar dysfunction; Oculogyric crisis; Autonomic dysfunction; Intellectual disability; OMIM 608603 to Aromatic L-amino acid decarboxylase deficiency, MIM# 608643; Infantile-onset parkinsonism & dystonia; Bulbar dysfunction; Oculogyric crisis; Autonomic dysfunction; Intellectual disability

20 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Jul 2022, Gel status: 0

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

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

gene: DDC was added gene: DDC was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDC were set to PMID: 33983693 Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency (DYT-DDC); Infantile-onset parkinsonism & dystonia; Bulbar dysfunction; Oculogyric crisis; Autonomic dysfunction; Intellectual disability; OMIM 608603 Review for gene: DDC was set to GREEN