Inherited phaeochromocytoma and paraganglioma

Gene: GDNF

Red List (low evidence)

GDNF (glial cell derived neurotrophic factor)
EnsemblGeneIds (GRCh38): ENSG00000168621
EnsemblGeneIds (GRCh37): ENSG00000168621
OMIM: 600837, Gene2Phenotype
GDNF is in 8 panels

3 reviews

Louise IZATT (GSTT Clinical Genetics Service)

I don't know

Treena Cranston (Oxford)

I don't know

Ellen Thomas (Genomics England Curator)

Comment when marking as ready: Leave on red list - only evidence as modifier, not primary monogenic disease gene.
Created: 28 Feb 2016, 2:53 p.m.

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Central hypoventilation syndrome, 209880{Pheochromocytoma, modifier of}, 171300{Hirschsprung disease, susceptibility to, 3}, 613711
OMIM
600837
Clinvar variants
Variants in GDNF
Penetrance
Complete
Panels with this gene

History Filter Activity

28 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

GDNF was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Radboud University Medical Center, Nijmegen