PanelApp (test)
  1. Genes and Genomic Entities
  2. DHTKD1

DHTKD1

dehydrogenase E1 and transketolase domain containing 1
OMIM: 614984, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green DHTKD1 in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Alpha-aminoadipic and alpha-ketoadipic aciduria MIM#204750, AR
  • Charcot-Marie-Tooth disease, axonal, type 2Q, MIM#615025

Green DHTKD1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review Unknown
Sources
  • Genetic Health Queensland
  • Expert Review Green

Amber DHTKD1 in Hereditary Neuropathy_CMT - isolated


Level 2: Neurology and neurodevelopmental disorders
Version 1.48

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Amber
    • NHS GMS
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • HMSN
    • Charcot Marie Tooth disease, axonal, type 2Q, 615025
    • 2 aminoadipic 2 oxoadipic aciduria, 204750

    Green DHTKD1 in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.46

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • 2-aminoadipic 2-oxoadipic aciduria MIM#204750
    • Disorders of histidine, tryptophan or lysine metabolism

    Amber DHTKD1 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    Phenotypes
    • 2-aminoadipic 2-oxoadipic aciduria MIM#204750
    • Disorders of histidine, tryptophan or lysine metabolism

    Green DHTKD1 in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.128

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • 2-aminoadipic 2-oxoadipic aciduria MONDO:0008774