Paediatric pseudo-obstruction syndrome

Gene: RAD21

I don't know

The rating of this gene has been updated to Amber 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 AMBER as this gene was associated with Mungan syndrome/ Chronic Intestinal Pseudo-obstruction (CIPO) from a large consanguineous Turkish family, and supported by animal models from mouse and zebrafish. The patients with Mungan syndrome were found to have biallelic RAD21 p.A622T variants.

This gene is already associated with Mungan syndrome in OMIM.

Created: 30 Dec 2022, 8:07 a.m. | Last Modified: 30 Dec 2022, 8:07 a.m.

Panel Version: 0.116

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mungan syndrome, OMIM:611376

Publications

• 14638363
• 21832993
• 25575569
• 31848803
• 32687945

Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Mitochondrial depletion disorders (MNGIE, MELAS, myopathy, other). Protein function: Part of a cohesion complex that controls pairing and un-pairing in cell replication. Plays an important role in epithelial and neuronal survival and ABOP regulation in the gastrointestinal tract.

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
Pseudo-obstruction, megaduodenum, long segment Barretts esophagus and cardiac abnormalities

Publications

• 31848803