GBF1

golgi brefeldin A resistant guanine nucleotide exchange factor 1
OMIM: 603698, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red GBF1 in Cataract


Level 2: Ophthalmological disorders
Version 0.373

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • autosomal dominant cataract MONDO:0022672, GBF1-related

Green GBF1 in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease, dominant intermediate A, MIM# 606483
  • Axonal Neuropathy

Green GBF1 in Hereditary Neuropathy_CMT - isolated


Level 2: Neurology and neurodevelopmental disorders
Version 1.52

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Charcot-Marie-Tooth disease, dominant intermediate A, MIM# 606483
    • Axonal Neuropathy