PanelApp
  1. Genes and Genomic Entities
  2. NAXE_NME_GGGCC

NAXE_NME_GGGCC

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber NAXE_NME_GGGCC STR in Mendeliome


Version 2.636

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 MONDO:0020781

Amber NAXE_NME_GGGCC STR in Leukodystrophy


Level 2: Neurology and neurodevelopmental disorders
Version 1.12

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 MONDO:0020781

    Amber NAXE_NME_GGGCC STR in Repeat Disorders


    Version 1.15

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 MONDO:0020781