Gastrointestinal neuromuscular disorders
Gene: SGO1added new-gene-name tagCreated: 9 Dec 2016, 4:44 p.m.
Comment on list classification: Seems to be a founder variant (rs199815268) inherited on a shared haplotype reported in PMID: 25282101. The phenotype includes Intestinal pseudoobstruction, neurogenic and myogenic. As only one founder mutation has been reported, this gene should remain red at this stage.Created: 19 Oct 2016, 12:59 p.m.
New HGNC name "SGO1" to be applied when appropriate.
Single rare variant (rs199815268) found in 15 un-related patients with Chronic atrial and intestinal dysrhythmia (MIM 616201). Segregation with phenotype reported and shared Northern European haplotype demonstrated (PMID 25282101)Created: 1 Sep 2016, 7:27 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chronic atrial and intestinal dysrhythmia 616201
Publications
SGOL1 was changed to SGO1
new-gene-name was removed from SGOL1. Panel: Neonatal and familial gastrointestinal neuromuscular disorders founder-effect was removed from SGOL1. Panel: Neonatal and familial gastrointestinal neuromuscular disorders
26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.
This gene has been classified as Red List (Low Evidence).
SGOL1 was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Other
SGOL1 was created by sleigh