BOLA1

bolA family member 1
OMIM: 613181, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red BOLA1 in Likely inborn error of metabolism - targeted testing not possible


Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • No OMIM phenotype
    Red BOLA1 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.168
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review Not set
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • No OMIM phenotype