PanelApp (test)
  1. Genes and Genomic Entities
  2. NAT8L:Ensemblv90

NAT8L:Ensemblv90

N-acetyltransferase 8 like
OMIM: 610647, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red NAT8L in Mendeliome


Version 1.3802

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • N-acetylaspartate deficiency - MIM#614063

Red NAT8L in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.376

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • N-acetylaspartate deficiency - MIM#614063

Red NAT8L in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.309

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • N-acetylaspartate deficiency - MIM#614063

    Red NAT8L in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • N-acetylaspartate deficiency - MIM#614063

    Red NAT8L in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.59

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • N-acetylaspartate deficiency - MIM#614063

    Red NAT8L in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.138

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • ClinGen
    Phenotypes
    • N-acetylaspartate deficiency MONDO:0013549

    Red NAT8L in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 2.0

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Red
    Phenotypes
    • N-acetylaspartate deficiency - MIM#614063

    Red NAT8L in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • ClinGen
    • Expert Review Red
    Phenotypes
    • N-acetylaspartate deficiency MONDO:0013549