Paediatric pseudo-obstruction syndrome

Gene: SGO1

Green List (high evidence)

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

• 25282101
• 31848803

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

• 31848803