GDNF

glial cell derived neurotrophic factor
OMIM: 600837, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red GDNF in Central Hypoventilation


Level 2: Neurology and neurodevelopmental disorders
Version 1.5

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Central hypoventilation syndrome, MIM# 209880

Red GDNF in Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Central hypoventilation syndrome, MIM# 209880

Red GDNF in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • {Hirschsprung disease, susceptibility to, 3} MIM#613711

Red GDNF in Gastrointestinal neuromuscular disease


Level 2: Gastroenterological disorders
Version 1.24

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • {Hirschsprung disease, susceptibility to, 3} MIM#613711

    Red GDNF in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Hirschsprung disease
    • Central hypoventilation syndrome

    Red GDNF in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Hirschsprung disease
    • Central hypoventilation syndrome