Paediatric pseudo-obstruction syndrome
Gene: SEMA3F
The rating of this gene has been updated to Red and the mode of inheritance set to '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: This gene should be rated RED as this gene was associated with megacolon on six individuals from a single pedigree over five generations with 49 members and all these six members had g.3:50225360A>G; c1873A>G variant in SEMA3F (PMID:30663199).
No relevant phenotypes are reported either in OMIM or in G2P.Created: 30 Dec 2022, 7:39 p.m. | Last Modified: 30 Dec 2022, 7:39 p.m.
Panel Version: 0.128
Phenotypes
megacolon, MONDO:0001273
Publications
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: Associated with genes (KITandPDGFRB) that impact intestinal pacemaker function.. Other information: SEMA3F (g.3:50225360A>G; c1873A>G).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
Publications
Tag gene-checked tag was added to gene: SEMA3F.
Publications for gene: SEMA3F were set to
Phenotypes for gene: SEMA3F were changed from to megacolon, MONDO:0001273
Mode of inheritance for gene: SEMA3F was changed from to Unknown
gene: SEMA3F was added gene: SEMA3F was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: SEMA3F was set to