GDNF:Ensemblv90

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

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red GDNF in Central Hypoventilation


Level 2: Neurology and neurodevelopmental disorders
Version 1.6

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 Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.4

2 reviews 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 1.3802

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 0.178

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 1.25

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • 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 0.278

    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 1.141

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

    Red GDNF in Central Hypoventilation


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

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

    Red GDNF in Interstitial Lung Disease


    Level 2: Respiratory disorders
    Version 2.0

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

    Red GDNF in Pulmonary Fibrosis_Interstitial Lung Disease


    Level 2: Respiratory disorders
    Version 1.0

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