Gastrointestinal neuromuscular disorders
Gene: SGO1EnsemblGeneIds (GRCh38): ENSG00000129810
EnsemblGeneIds (GRCh37): ENSG00000129810
OMIM: 609168, Gene2Phenotype
SGO1 is in 2 panels
4 reviews
Louise Daugherty (Genomics England Curator)
added new-gene-name tagCreated: 9 Dec 2016, 4:44 p.m.
Ellen McDonagh (Genomics England Curator)
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.
Sarah Leigh (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Other
- Phenotypes
-
- Chronic atrial and intestinal dysrhythmia 616201
- Tags
- OMIM
- 609168
- Clinvar variants
- Variants in SGO1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Changed Gene Name
GEL ()SGOL1 was changed to SGO1
Removed Tag, Removed Tag
GEL ()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
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)SGOL1 was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Other
Created
Sarah Leigh (Genomics England Curator)SGOL1 was created by sleigh