NDUFA8

NADH:ubiquinone oxidoreductase subunit A8
OMIM: 603359, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber NDUFA8 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272
  • Developmental delay
  • microcehaly
  • seizures

Amber NDUFA8 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Expert list
    • Expert Review Amber
    • Literature
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 37 - 619272
    • Epilepsy
    • Microcephaly
    • Developmental Delay

    Amber NDUFA8 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.927

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272
    • Developmental delay
    • microcehaly
    • seizures

    Amber NDUFA8 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 37- 619272
    • Epilepsy
    • Microcephaly
    • Developmental Delay