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  3. SGO1
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Gastrointestinal neuromuscular disease

Gene: SGO1

Amber List (moderate evidence)
SGO1 (shugoshin 1)
EnsemblGeneIds (GRCh38): ENSG00000129810
EnsemblGeneIds (GRCh37): ENSG00000129810
OMIM: 609168, Gene2Phenotype
SGO1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single homozygous missense identified in 15 individuals, founder effect demonstrated by haplotype analysis. Functional data supports gene-disease association.
Created: 30 Jul 2021, 8:25 a.m. | Last Modified: 30 Jul 2021, 8:27 a.m.
Panel Version: 0.54

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chronic atrial and intestinal dysrhythmia, MIM# 616201

Publications

Created: 30 Jul 2021, 8:25 a.m.
Last Modified: 30 Jul 2021, 8:27 a.m.
Panel version: 0.54

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Chronic atrial and intestinal dysrhythmia, MIM# 616201
Tags
founder
OMIM
609168
Clinvar variants
Variants in SGO1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sgo1 has been classified as Amber List (Moderate Evidence).

30 Jul 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SGO1 were changed from Chronic atrial and intestinal dysrhythmia, 616201 to Chronic atrial and intestinal dysrhythmia, MIM# 616201

30 Jul 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SGO1 were set to

30 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sgo1 has been classified as Amber List (Moderate Evidence).

30 Jul 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: SGO1.

14 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: SGO1 was added gene: SGO1 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SGO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGO1 were set to Chronic atrial and intestinal dysrhythmia, 616201