BBOX1

gamma-butyrobetaine hydroxylase 1
OMIM: 603312, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber BBOX1 in Mendeliome


Version 1.3382

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Carnitine deficiency, MONDO:0017716, BBOX1-related

Amber BBOX1 in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.104

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Carnitine deficiency, MONDO:0017716, BBOX1-related

    Amber BBOX1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.359

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Carnitine deficiency, MONDO:0017716, BBOX1-related