Inherited phaeochromocytoma and paraganglioma
Gene: GDNF
GDNF (glial cell derived neurotrophic factor)
EnsemblGeneIds (GRCh38): ENSG00000168621
EnsemblGeneIds (GRCh37): ENSG00000168621
OMIM: 600837, Gene2Phenotype
GDNF is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000168621
EnsemblGeneIds (GRCh37): ENSG00000168621
OMIM: 600837, Gene2Phenotype
GDNF is in 9 panels
3 reviews
Louise IZATT (GSTT Clinical Genetics Service)
Treena Cranston (Oxford)
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
-
- Sudden death in young people
- CAKUT
- Inherited phaeochromocytoma and paraganglioma
- Unexplained young onset end-stage renal disease - additional genes
- Unexplained kidney failure in young people
- Familial pulmonary fibrosis
- Gastrointestinal neuromuscular disorders
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
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