1. Genes and Genomic Entities
  2. EGF

EGF

epidermal growth factor
OMIM: 131530, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red EGF in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.643

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hypomagnesaemia type 4, renal (Disorder of magnesium metabolism)
Red EGF in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.104
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Hypomagnesaemia type 4, renal (Disorder of magnesium metabolism)
    Red EGF in Renal tubulopathies


    Level 2: Renal
    Version 5.11
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review Not set
    Sources
    • NHS GMS
    Phenotypes
    • Hypomagnesemia 4, renal, 611718