IVD

isovaleryl-CoA dehydrogenase
OMIM: 607036, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green IVD in Mendeliome


Version 1.3512

1 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 0.594

0 reviews 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 1.410

1 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 0.110

0 reviews 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

0 reviews 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
  • 1 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 2.14

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Isovaleric acidemia, MIM #243500

    Green IVD 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
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • isovaleric acidemia MONDO:0009475
    Tags
    • treatable

    Green IVD 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
    • Isovaleric acidemia, MIM#243500
    Tags
    • treatable
    • metabolic

    Green IVD in Prepair 500+


    Level 2: Screening
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Isovaleric acidemia, MIM #243500