MTNAP1

mitochondrial nucleoid associated protein 1
OMIM: 620717, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber MTNAP1 in Mendeliome


Version 2.10

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mitochondrial disease, MONDO:0044970
Tags
  • new gene name

Amber MTNAP1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.1

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Mitochondrial disease, MONDO:0044970
    Tags
    • new gene name

    Amber MTNAP1 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 2.0

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Mitochondrial disease, MONDO:0044970
    Tags
    • new gene name

    Amber MTNAP1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Mitochondrial disease, MONDO:0044970
    Tags
    • new gene name

    Amber MTNAP1 in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Mitochondrial disease, MONDO:0044970
    Tags
    • new gene name