1. Genes and Genomic Entities
  2. NAXD

NAXD

NAD(P)HX dehydratase
OMIM: 615910, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green NAXD in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.13
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, OMIM:618321
    Amber NAXD in Epidermolysis bullosa and congenital skin fragility


    Level 2: Dermatology
    Version 2.13
    Latest signed off version: v2.2 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Amber
    Phenotypes
    • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, OMIM:618321
    Tags
    • watchlist
    Green NAXD in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.91
    Latest signed off version: v8.0 (30 Apr 2025)

    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
    • Expert Review Green
    • Expert list
    Phenotypes
    • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, OMIM:618321
    Green NAXD in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Neurodegenerative disorder exacerbated by febrile illnesses
    Green NAXD in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.41
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 618321
    Amber NAXD in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 7.96
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, OMIM:618321
    • NAD(P)HX dehydratase deficiency, MONDO:0034121
    Tags
    • Q3_25_promote_green