Gastrointestinal neuromuscular disorders

Gene: SGO1

Red List (low evidence)

SGO1 (shugoshin 1)
EnsemblGeneIds (GRCh38): ENSG00000129810
EnsemblGeneIds (GRCh37): ENSG00000129810
OMIM: 609168, Gene2Phenotype
SGO1 is in 1 panel

4 reviews

Louise Daugherty (Genomics England Curator)

added new-gene-name tag
9 Dec 2016, 4:44 p.m.

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

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.
19 Oct 2016, 12:59 p.m.

Neil shah (GOSH)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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)
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
founder-effect
OMIM
609168
Clinvar variants
Variants in SGO1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 Nov 2017, Gel status: 1

Changed Gene Name

GEL ()

SGOL1 was changed to SGO1

5 Nov 2017, Gel status: 1

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

26 Oct 2016, Gel status: 1

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.

19 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

1 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SGOL1 was created by sleigh

1 Sep 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

SGOL1 was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Other