Paediatric pseudo-obstruction syndrome
Gene: RAD21
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
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
Phenotypes for gene: RAD21 were changed from to Mungan syndrome, OMIM:611376
Publications for gene: RAD21 were set to
Mode of inheritance for gene: RAD21 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: rad21 has been classified as Amber List (Moderate Evidence).
Gene: rad21 has been classified as Amber List (Moderate Evidence).
gene: RAD21 was added gene: RAD21 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: RAD21 was set to