Paediatric pseudo-obstruction syndrome
Gene: SCN10A
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 phenotype reported in OMIM (#615551) is not relevant to this panel and there are no phenotypes reported in G2P. PMID:30663199 does not report any cases associated with SCN10A and a quick literature search did not find any literature making an association. So, this gene should be rated as RED.Created: 30 Dec 2022, 7:14 p.m. | Last Modified: 30 Dec 2022, 7:14 p.m.
Panel Version: 0.128
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: sodium voltage-gated channel alpha subunit 10.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
Colon sensory neurons activation
Publications
Phenotypes for gene: SCN10A were changed from to Colon sensory neurons activation
Mode of inheritance for gene: SCN10A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
gene: SCN10A was added gene: SCN10A was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: SCN10A was set to