PanelApp
  1. Genes and Genomic Entities
  2. BCKDK

BCKDK

branched chain ketoacid dehydrogenase kinase
OMIM: 614901, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green BCKDK in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.224

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

Green BCKDK in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Branched-chain ketoacid dehydrogenase kinase deficiency MIM#614923
  • disorder of branched-chain amino acid metabolism

Green BCKDK 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
    • Expert list
    Phenotypes
    • Branched-chain keto acid dehydrogenase kinase deficiency MIM#614923

    Green BCKDK in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Branched-chain ketoacid dehydrogenase kinase deficiency MIM#614923
    Tags
    • treatable

    Green BCKDK 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
    • Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 (3)

    Green BCKDK in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 (3)

    Green BCKDK 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
    • NHS GMS
    Phenotypes
    • branched-chain keto acid dehydrogenase kinase deficiency MONDO:0013970
    Tags
    • treatable

    Green BCKDK in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BeginNGS
    Phenotypes
    • Branched-chain keto acid dehydrogenase kinase deficiency, MIM# 614923
    Tags
    • treatable
    • metabolic