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  3. NRTN
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Gastrointestinal neuromuscular disease

Gene: NRTN

Red List (low evidence)
NRTN (neurturin)
EnsemblGeneIds (GRCh38): ENSG00000171119
EnsemblGeneIds (GRCh37): ENSG00000171119
OMIM: 602018, Gene2Phenotype
NRTN is in 1 panel

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A mouse model has a gastrointestinal neuromuscular phenotype, however there is limited evidence that variants in NRTN cause Hirschsprung disease or a gastrointestinal neuromuscular disease in humans.
Sources: Expert list
Created: 3 Jul 2020, 4:03 a.m.

Mode of inheritance
Unknown

Phenotypes
Hirschsprung disease

Publications

Created: 3 Jul 2020, 4:03 a.m.

Panel version: 0.14

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Hirschsprung disease
OMIM
602018
Clinvar variants
Variants in NRTN
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: nrtn 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: NRTN was added gene: NRTN was added to Gastrointestinal neuromuscular disease. Sources: Expert list Mode of inheritance for gene: NRTN was set to Unknown Publications for gene: NRTN were set to 21206993; 10069332; 9700200 Phenotypes for gene: NRTN were set to Hirschsprung disease Review for gene: NRTN was set to RED