This Panel is marked as Retired
Multiple Tumours
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
1 review
Ellen McDonagh (Genomics England Curator)
Red gene on the Neuro-endocrine Tumours- PCC and PGL (Version 1.1) gene panel.Created: 3 May 2017, 12:19 p.m.
Mode of inheritance
Unknown
Phenotypes
Central hypoventilation syndrome, 209880{Pheochromocytoma, modifier of}, 171300{Hirschsprung disease, susceptibility to, 3}, 613711
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Other
- 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
- Inherited phaeochromocytoma and paraganglioma
- CAKUT
- Unexplained kidney failure in young people
- Familial pulmonary fibrosis
- Unexplained young onset end-stage renal disease - additional genes
- Gastrointestinal neuromuscular disorders
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
History Filter Activity
3 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)GDNF was created by ellenmcdonagh
3 May 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)GDNF was added to Multiple Tumourspanel. Sources: Other