1. Genes and Genomic Entities
  2. DHTKD1

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 1.617

review 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 Likely inborn error of metabolism - targeted testing not possible


Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • 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 3.105
    Latest signed off version: v3.0 (22 Mar 2023)

    		review 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 3.157
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA
    Green DHTKD1 in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    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 1.477

    		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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.536
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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 4.168
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • 2-aminoadipic and 2-oxoadipic aciduria, 204750
    Amber DHTKD1 in Hereditary neuropathy or pain disorder


    Version 3.94
    Latest signed off version: v3.24 (15 May 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Radboud University Medical Center, Nijmegen
    • South West GLH
    • NHS GMS
    • NHS GMS
    • South West GLH
    Phenotypes
    • ?Charcot-Marie-Tooth disease, axonal, type 2Q, OMIM:615025
    Tags
    • Q3_23_promote_green
    Red DHTKD1 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green DHTKD1 in Severe Paediatric Disorders


    Version 1.184

    		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