DDC

dopa decarboxylase
OMIM: 107930, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green DDC in Neurotransmitter disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Aromatic L-amino acid decarboxylase deficiency, OMIM:608643
  • Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084

Green DDC in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.117

review 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

Red DDC in Autism


Version 0.22

review Not set
Sources
  • Expert Review Red
  • SFARI

Red DDC in Neurodegenerative disorders - adult onset


Version 2.275
Latest signed off version: v2.178 (5 Aug 2021)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Aromatic L-amino acid decarboxylase deficiency, OMIM:608643
  • Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084

Green DDC in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.542

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Literature
Phenotypes
  • Aromatic L-amino acid decarboxylase deficiency, OMIM:608643
  • Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084

Green DDC in Inborn errors of metabolism


Version 2.263
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Aromatic L-amino acid decarboxylase deficiency, OMIM:608643
    • Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084

    Red DDC in Fetal anomalies


    Version 1.900
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Aromatic L-amino acid decarboxylase deficiency, OMIM:608643
    • Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084

    Green DDC in DDG2P


    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY 608643

    Green DDC in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.563
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Aromatic L-amino acid decarboxylase deficiency, OMIM:608643
    • Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084

    Green DDC in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1659
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Aromatic L-amino acid decarboxylase deficiency, OMIM:608643
    • Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084

    Amber DDC in Adult onset movement disorder


    Version 1.170
    Latest signed off version: v1.121 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • South West GLH
    Phenotypes
    • Aromatic L-amino acid decarboxylase deficiency, OMIM:608643
    • Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084

    Green DDC in Childhood onset dystonia or chorea or related movement disorder


    Version 1.241
    Latest signed off version: v1.137 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Aromatic L-amino acid decarboxylase deficiency, OMIM:608643
    • Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084

    Green DDC in Severe Paediatric Disorders


    Version 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Aromatic L-amino acid decarboxylase deficiency, OMIM:608643
    • Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084