PanelApp
  1. Genes and Genomic Entities
  2. GCDH

GCDH

glutaryl-CoA dehydrogenase
OMIM: 608801, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Green GCDH in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.400

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glutaric aciduria, type I MIM#231670

Green GCDH in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.151

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green GCDH in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Glutaric aciduria, type I MIM#231670
  • Organic acidurias
Tags
  • treatable

Green GCDH in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Glutaric aciduria, type I MIM#231670

    Red GCDH in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.565

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glutaric aciduria, type I MIM#231670

    Green GCDH in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.594

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Tags
    • treatable

    Green GCDH in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Glutaric aciduria, type I MIM#231670
    Tags
    • treatable

    Green GCDH in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.288

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • glutaryl-CoA dehydrogenase deficiency MONDO:0009281
    Tags
    • treatable

    Amber GCDH in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.151

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Glutaric aciduria, type I, MIM#231670

    Green GCDH in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Glutaricaciduria, type I, 231670 (3)

    Green GCDH in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Glutaricaciduria, type I

    Green GCDH in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.57

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Glutaricaciduria, type I MIM#231670
    • Organic acidurias
    Tags
    • treatable

    Green GCDH in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Glutaric aciduria, type I MIM#231670

    Green GCDH in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Glutaric aciduria, type I, MIM#231670

    Green GCDH in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.137

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • glutaryl-CoA dehydrogenase deficiency MONDO:0009281

    Green GCDH in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Glutaric aciduria, type I, MIM#231670
    Tags
    • treatable
    • metabolic

    Green GCDH in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Glutaric aciduria, type I, MIM#231670