GDNF

glial cell derived neurotrophic factor
OMIM: 600837, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Amber GDNF in Familial Hirschsprung Disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.11

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Alder Hey - Erasmus MC
Phenotypes
  • susceptibility to Hirschsprung disease 3, 613711
  • {Hirschsprung disease, susceptibility to, 3}, 613711
  • Hirschsprung Disease, Dominant
  • short-segment HSCR
  • long-segment HSCR
Tags
  • watchlist
Red GDNF in Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.32

review Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Amber GDNF in Gastrointestinal neuromuscular disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.30

review Unknown
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • {Hirschsprung disease, susceptibility to, 3} 613711
Tags
  • polygenic
Red GDNF in Sudden death in young people

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.16

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Central hypoventilation syndrome, 209880
  • CCHS
Red GDNF in Inherited phaeochromocytoma and paraganglioma

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.12

review Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Central hypoventilation syndrome, 209880{Pheochromocytoma, modifier of}, 171300{Hirschsprung disease, susceptibility to, 3}, 613711
Red GDNF in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.124

review Not set
Sources
  • Expert Review Red
  • Expert list
Red GDNF in CAKUT

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.181

review Not set
Sources
  • Expert Review Red
  • Expert list
Red GDNF in Paediatric pseudo-obstruction syndrome


Level 2: Gastrohepatology
Version 2.5
Latest signed off version: v2.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
Phenotypes
  • {Hirschsprung disease, susceptibility to, 3}, OMIM:613711
Red GDNF in Unexplained young onset end-stage renal disease - additional genes


Level 2: Renal
Version 1.4
Latest signed off version: v1.1 (30 Apr 2025)

Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review Unknown
    Sources
    • Expert Review Red