1. Genes and Genomic Entities
  2. GUF1

GUF1

GUF1 homolog, GTPase
OMIM: 617064, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber GUF1 in Early onset or syndromic epilepsy


Level 2: Neurology
Version 8.159
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • ?Epileptic encephalopathy, early infantile, 40, 617065
    Red GUF1 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.46
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review Not set
    Sources
    • Expert list
    Phenotypes
    • ?Epileptic encephalopathy, early infantile, 40 617065