Paediatric pseudo-obstruction syndrome
Gene: NKX2-1
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: The phenotypes that are reported in OMIM or G2P are not relevant to this panel. PMID:30663199 does not report any cases associated with NKX2-1 and a quick literature search did not find any literature making an association. So, this gene should be rated as RED.Created: 29 Dec 2022, 8:51 p.m. | Last Modified: 29 Dec 2022, 9:02 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: NK2 homeobox 1.Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.
Panel Version: 0.2
Mode of inheritance
Unknown
Phenotypes
Megacolon, oesophageal atresia
Publications
Publications for gene: NKX2-1 were set to
Phenotypes for gene: NKX2-1 were changed from to Megacolon, oesophageal atresia
Mode of inheritance for gene: NKX2-1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
gene: NKX2-1 was added gene: NKX2-1 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: NKX2-1 was set to