DHTKD1

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

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green DHTKD1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.440

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 2-Aminoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism)
  • 2-Oxoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism)
  • 2-aminoadipic and 2-oxoadipic aciduria, 204750

Green DHTKD1 in Inborn errors of metabolism


Version 2.50
Signed off v.2.3 on 17 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • 2-Oxoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism)
    • 2-Aminoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism)
    • 2-aminoadipic and 2-oxoadipic aciduria, 204750

    Red DHTKD1 in Possible mitochondrial disorder - nuclear genes


    Version 1.31
    Signed off v.1.17 on 11 Nov 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • ?Charcot-Marie-Tooth disease, axonal, type 2Q 615025
    • 2-aminoadipic 2-oxoadipic aciduria, 204750

    Amber DHTKD1 in Fetal anomalies


    Version 1.185
    Signed off v.1.92 on 21 Aug 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA

    Amber DHTKD1 in DDG2P


    Version 2.18
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA 204750

    Red DHTKD1 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.383

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Charcot Marie Tooth disease, axonal, type 2Q, 615025
    • 2 aminoadipic 2 oxoadipic aciduria, 204750
    • 2 aminoadipic 2 oxoadipic aciduria, 204750

    Green DHTKD1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.740
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • 2-aminoadipic 2-oxoadipic aciduria, 204750
    • Charcot-Marie-Tooth disease, axonal, type 2Q, 615025
    • 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA

    Red DHTKD1 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.14
    Signed off v.2.4 on 17 Feb 2020

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • 2-aminoadipic and 2-oxoadipic aciduria, 204750

    Red DHTKD1 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.21
    Signed off v.1.2 on 27 Feb 2020

    review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    • South West GLH
    • NHS GMS
    • NHS GMS
    • South West GLH
    Phenotypes
    • Charcot Marie Tooth disease, axonal, type 2Q, 615025
    • 2 aminoadipic 2 oxoadipic aciduria, 204750

    Red DHTKD1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.74
    Signed off v.1.58 on 6 Oct 2020

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green DHTKD1 in Severe Paediatric Disorders


    Version 1.43

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • 2-aminoadipic 2-oxoadipic aciduria, 204750
    • ?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025