PanelApp
  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 1.3512

3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
  • NHS GMS
Phenotypes
  • 2-aminoadipic 2-oxoadipic aciduria MONDO:0008774
  • Charcot-Marie-Tooth disease axonal type 2Q MONDO:0014012

Amber DHTKD1 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 Amber
  • Genetic Health Queensland
Phenotypes
  • 2-aminoadipic 2-oxoadipic aciduria MIM#204750
  • Disorders of histidine, tryptophan or lysine metabolism

Amber DHTKD1 in Hereditary Neuropathy_CMT - isolated


Level 2: Neurology and neurodevelopmental disorders
Version 1.68

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Charcot-Marie-Tooth disease axonal type 2Q MONDO:0014012

    Green DHTKD1 in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.57

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

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

    Amber DHTKD1 in Fetal anomalies


    Version 1.465

    		2 reviews 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 1.137

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

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