GCDH

glutaryl-CoA dehydrogenase
OMIM: 608801, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Red GCDH in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.86

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia

No list GCDH in White matter disorders - adult onset


Version 1.10
Latest signed off version: v1.6 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Glutaric aciduria, type I 231670

Green GCDH in Structural basal ganglia disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.18

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature

Amber GCDH in Neurodegenerative disorders - adult onset


Version 2.174
Latest signed off version: v2.31 (8 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Dystonia
  • Glutaricaciduria, type I, OMIM:231670

Green GCDH in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.457

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Glutaricaciduria, type I 231670

Green GCDH in Inborn errors of metabolism


Version 2.131
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
    • Glutaricaciduria, type I, 231670

    Green GCDH in Fetal anomalies


    Version 1.648
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • GLUTARICACIDEMIA TYPE 1

    Green GCDH in DDG2P


    Version 2.27
    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
    • GLUTARICACIDEMIA TYPE 1 231670

    Green GCDH in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1068
    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
    • GLUTARICACIDEMIA TYPE 1

    Red GCDH in Adult onset movement disorder


    Version 1.113
    Latest signed off version: v1.14 (15 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH

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


    Version 1.100
    Latest signed off version: v1.58 (6 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Dystonia
    • Glutaricaciduria, type I, 231670

    Green GCDH in Severe Paediatric Disorders


    Version 1.76

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Glutaricaciduria, type I, 231670