Gastrointestinal neuromuscular disorders
Gene: GDNFEnsemblGeneIds (GRCh38): ENSG00000168621
EnsemblGeneIds (GRCh37): ENSG00000168621
OMIM: 600837, Gene2Phenotype
GDNF is in 9 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
See PMID: 23605783 as a review of Hirschsprung disease (HSCR): "most commonly presents sporadically with reduced penetrance and male predominance, although it can be familial and may be inherited as autosomal dominant or autosomal recessive. In 70% of cases, HSCR occurs as an isolated trait and in the other 30% HSCR is associated with other congenital malformation syndromes. HSCR has a complex genetic etiology with several genes and loci being described as associated with either isolated or syndromic forms."Created: 19 Oct 2016, 10:19 a.m.
Comment on list classification: Variants reported in this gene for association with susceptibility to Hirschsprung disease, however seems to be polygenic (RET variants also reported in patients) and not complete segregation with the disorder (e.g. PMID:8896569), though another study suggests it may be causative in some cases (PMID:8968758).Created: 19 Oct 2016, 10:17 a.m.
Publications
Neil shah (GOSH)
Mode of inheritance
Unknown
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Amber
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- {Hirschsprung disease, susceptibility to, 3} 613711
- Tags
- OMIM
- 600837
- Clinvar variants
- Variants in GDNF
- Penetrance
- Complete
- Publications
- 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
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.
Set publications
Ellen McDonagh (Genomics England Curator)Publications for GDNF were set to 12239580; 23605783; 8896569; 8968758;11953745
Set publications
Ellen McDonagh (Genomics England Curator)Publications for GDNF were set to 12239580; 23605783;8896569;8968758
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for GDNF were set to {Hirschsprung disease, susceptibility to, 3} 613711
Added New Source
Sarah Leigh (Genomics England Curator)GDNF was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Sarah Leigh (Genomics England Curator)GDNF was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Created
Sarah Leigh (Genomics England Curator)GDNF was created by sleigh