1. Panels
  2. Paediatric pseudo-obstruction syndrome
  3. NRTN
STRs in panel
Prev Next
Regions in panel
Prev Next

Paediatric pseudo-obstruction syndrome

Gene: NRTN

Red List (low evidence)
NRTN (neurturin)
EnsemblGeneIds (GRCh38): ENSG00000171119
EnsemblGeneIds (GRCh37): ENSG00000171119
OMIM: 602018, Gene2Phenotype
NRTN is in 2 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The rating of this gene has been updated to Red and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 7:44 a.m. | Last Modified: 1 Feb 2023, 7:44 a.m.
Panel Version: 0.216
Comment on list classification: Not associated with any relevant phenotype in OMIM or G2P. A quick literature search did not find any association of NRTN with paediatric pseudo-obstruction syndrome. The review from Dr. Anna Rybak and Dr. Osvaldo Borreli (Great Ormond Street Hospital for Children NHS Foundation Trust) reports only one case. Hence, it should be rated RED.
Created: 29 Dec 2022, 9 p.m. | Last Modified: 29 Dec 2022, 9 p.m.
Panel Version: 0.97
Created: 29 Dec 2022, 9 p.m.
Last Modified: 29 Dec 2022, 9 p.m.
Panel version: 0.216

Eleanor Williams (Genomics England Curator)

Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Genes involved in Hirschsprung disease (HSCR) in humans and models of megacolon. Protein function: Not given. Other information: Submitted gene symbol: NTN.
Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.
Panel Version: 0.2

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
1 case reported.

Created: 20 Dec 2022, 3:32 p.m.
Last Modified: 20 Dec 2022, 3:32 p.m.
Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
Phenotypes
  • susceptibility to Hirschsprung disease
OMIM
602018
Clinvar variants
Variants in NRTN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jan 2023, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: NRTN were set to

4 Jan 2023, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: NRTN were changed from to susceptibility to Hirschsprung disease

4 Jan 2023, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: NRTN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Dec 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: NRTN was added gene: NRTN was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: NRTN was set to