Paediatric pseudo-obstruction syndrome
Gene: NRTN
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
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.
Publications for gene: NRTN were set to
Phenotypes for gene: NRTN were changed from to susceptibility to Hirschsprung disease
Mode of inheritance for gene: NRTN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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