Paediatric pseudo-obstruction syndrome

Gene: PROKR1

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' 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 was associated with Hirschsprung disease from four unrelated patients from PMID:21858136. The three variants identified are c.387C>T, c.1062A>T and c.1121G>A.

This gene is not yet associated with any relevant phenotypes in OMIM or G2P.

Created: 29 Dec 2022, 10:32 p.m. | Last Modified: 29 Dec 2022, 10:32 p.m.

Panel Version: 0.108

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hirschsprung disease, MONDO:0018309

Publications

• 21858136

Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Genes involved in Hirschsprung disease (HSCR) in humans and models of megacolon. Protein function: Not given.

Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.

Panel Version: 0.2

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Long segment megacolon, HSCR

Publications

• 21858136