IVD

isovaleryl-CoA dehydrogenase
OMIM: 607036, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green IVD in Mendeliome


Version 1.2302

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Isovaleric acidaemia, MIM# 243500
Tags
  • treatable
Green IVD in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.572

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
  • treatable
Green IVD in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.63

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • isovaleric acidaemia MONDO:0009475
Tags
  • treatable
Green IVD 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
  • Isovaleric acidemia, 243500 (3)
Green IVD in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Isovaleric acidemia
Green IVD in Hyperammonaemia


Level 2: Metabolic disorders
Version 0.10

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Isovaleric acidaemia, MIM# 243500
    Tags
    • treatable
    Green IVD in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Isovaleric acidemia, 243500 (3)
    Green IVD in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.133

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • isovaleric acidemia MONDO:0009475
    Tags
    • treatable
    Green IVD 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
    • Isovaleric acidemia, MIM#243500
    Tags
    • treatable
    • metabolic
    Green IVD in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Isovaleric acidemia, 243500 (3)