Gastrointestinal neuromuscular disorders

Gene: GDNF

Amber List (moderate evidence)

GDNF (glial cell derived neurotrophic factor)
EnsemblGeneIds (GRCh38): ENSG00000168621
EnsemblGeneIds (GRCh37): ENSG00000168621
OMIM: 600837, Gene2Phenotype
GDNF is in 8 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

I don't know

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)

Green List (high evidence)

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
polygenic
OMIM
600837
Clinvar variants
Variants in GDNF
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 2

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.

19 Oct 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GDNF were set to 12239580; 23605783; 8896569; 8968758;11953745

19 Oct 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GDNF were set to 12239580; 23605783;8896569;8968758

19 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

31 Aug 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for GDNF were set to {Hirschsprung disease, susceptibility to, 3} 613711

31 Aug 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

GDNF was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Radboud University Medical Center, Nijmegen

31 Aug 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

GDNF was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services

31 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

GDNF was created by sleigh