Gastrointestinal neuromuscular disorders
Gene: GDNF
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
Mode of inheritance
Unknown
Variants in this GENE are reported as part of current diagnostic practice
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.
Publications for GDNF were set to 12239580; 23605783; 8896569; 8968758;11953745
Publications for GDNF were set to 12239580; 23605783;8896569;8968758
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for GDNF were set to {Hirschsprung disease, susceptibility to, 3} 613711
GDNF was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Radboud University Medical Center, Nijmegen
GDNF was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
GDNF was created by sleigh