GBF1:Ensemblv90

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red GBF1 in Cataract


Level 2: Ophthalmological disorders
Version 0.396

1 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 1.3802

3 reviews 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 1.68

Component of the following Super Panels:

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

    Red GBF1 in Cataract


    Level 2: Ophthalmological disorders
    Version 1.0

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

    Green GBF1 in Hereditary Neuropathy_CMT - isolated


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

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