GDNF

glial cell derived neurotrophic factor
OMIM: 600837, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red GDNF in Central Hypoventilation


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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

Red GDNF in Mendeliome


Version 2.0

1 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 Pulmonary Fibrosis_Interstitial Lung Disease


Level 2: Respiratory disorders
Version 2.0

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

Red GDNF in Gastrointestinal neuromuscular disease


Level 2: Gastroenterological disorders
Version 2.0

1 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 1.0

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

Red GDNF in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

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