DDC

dopa decarboxylase
OMIM: 107930, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Amber DDC in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.12

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Aromatic L-amino acid decarboxylase deficiency, MIM# 608643
    • Infantile-onset parkinsonism & dystonia
    • Bulbar dysfunction
    • Oculogyric crisis
    • Autonomic dysfunction
    • Intellectual disability

    Green DDC in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.389

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Aromatic L-amino acid decarboxylase deficiency MIM# 608643

    Green DDC in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Aromatic L-amino acid decarboxylase deficiency, MIM# 608643
    Tags
    • treatable
    • clinical trial

    Green DDC in Neurotransmitter Defects


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.7

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Aromatic L-amino acid decarboxylase deficiency, MIM# 608643
    Tags
    • treatable
    • clinical trial

    Green DDC in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.119

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Aromatic L-amino acid decarboxylase deficiency, MIM# 608643

    Green DDC in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green DDC in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.573

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green DDC in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland

    Green DDC in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.272

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Aromatic L-amino acid decarboxylase deficiency, 608643
    • Dystonia
    Tags
    • treatable
    • clinical trial

    Green DDC in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Aromatic L-amino acid decarboxylase deficiency, 608643 (3)

    Green DDC in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Aromatic L-amino acid decarboxylase deficiency

    Red DDC in Fetal anomalies


    Version 1.314

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

    Green DDC in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Aromatic L-amino acid decarboxylase deficiency 608643
    • Aromatic L-amino acid decarboxylase deficiency (MIM#608643)

    Green DDC in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Aromatic L-amino acid decarboxylase deficiency, MIM#608643
    Tags
    • treatable
    • clinical trial
    • metabolic

    Green DDC in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Aromatic L-amino acid decarboxylase deficiency, 608643 (3)