Paediatric pseudo-obstruction syndrome
Gene: SGO1
The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' 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 GREEN as this gene has been associated with chronic intestinal pseudo-obstruction in 17 patients (16 French Canadian and 1 Swedish) from 14 families, as reported in PMID:25282101.
This gene has already been associated with phenotype (MIM #616201) in OMIM, but not in G2P.Created: 30 Dec 2022, 7:49 p.m. | Last Modified: 30 Dec 2022, 7:49 p.m.
Panel Version: 0.131
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chronic atrial and intestinal dysrhythmia, OMIM:616201
Publications
Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Myopathic PIPO/MMIHS. Protein function: Component of the cohesion pathway. Other information: Submitted gene symbol: SGOL1.Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.
Panel Version: 0.2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Accelerated cell cycle progression and enhanced activation of TGF-B signaling leading to changes in both the enteric nervous system and smooth muscle. ChronicAtrial andIntestinalDysrhythmia (CAID) syndrome
Publications
Phenotypes for gene: SGO1 were changed from to Chronic atrial and intestinal dysrhythmia, OMIM:616201
Publications for gene: SGO1 were set to
Mode of inheritance for gene: SGO1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: sgo1 has been classified as Green List (High Evidence).
gene: SGO1 was added gene: SGO1 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: SGO1 was set to