Familial pulmonary fibrosis
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
2 reviews
Philip Molyneaux (Imperial College)
Central hypoventilation syndrome, not fibrosis
Created: 26 Apr 2017, 12:09 p.m.
Alice Gardham (Genomics England)
Comment when marking as ready: Central hypoventilation rather than fibrosis -incorrect phenotypeCreated: 8 Feb 2017, 7 p.m.
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Pulmonary Disease
- 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
27 Apr 2017, Gel status: 1
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
8 Feb 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
29 Oct 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)GDNF was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory
29 Oct 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)GDNF was created by ellenmcdonagh