Gastrointestinal neuromuscular disease
Gene: GDNF

GDNF (glial cell derived neurotrophic factor)
EnsemblGeneIds (GRCh38): ENSG00000168621
EnsemblGeneIds (GRCh37): ENSG00000168621
OMIM: 600837, Gene2Phenotype
GDNF is in 6 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Mouse models have a gastrointestinal neuromuscular phenotype, however there is limited evidence that variants in GDNF cause Hirschsprung disease or a gastrointestinal neuromuscular disease in humans.
Sources: Expert list
Created: 3 Jul 2020, 3:43 a.m. | Last Modified: 3 Jul 2020, 4:03 a.m.

Panel Version: 0.14

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Hirschsprung disease, susceptibility to, 3} MIM#613711

Publications

Created: 3 Jul 2020, 3:43 a.m.
Last Modified: 3 Jul 2020, 4:03 a.m.
Panel version: 0.13

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Expert list

Phenotypes

{Hirschsprung disease, susceptibility to, 3} MIM#613711

OMIM

600837

Clinvar variants

Variants in GDNF

Penetrance

None

Publications

Panels with this gene

History Filter Activity

3 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gdnf has been classified as Red List (Low Evidence).

3 Jul 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: GDNF was added gene: GDNF was added to Gastrointestinal neuromuscular disease. Sources: Expert list Mode of inheritance for gene: GDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GDNF were set to 18276829; 8896568; 8657308; 11973622 Phenotypes for gene: GDNF were set to {Hirschsprung disease, susceptibility to, 3} MIM#613711 Review for gene: GDNF was set to RED

Gastrointestinal neuromuscular disease Gene: GDNF