Paediatric pseudo-obstruction syndrome

Gene: PDCL3

Red List (low evidence)

The rating of this gene has been updated to Red 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 RED as this gene has been implicated in fetal megacystis-microcolon, as identified from bi-allelic (compound heterozygous) variants from two cases from a single family. These cases are reported in PMID:32621347.

This gene has not yet been associated with relevant phenotypes either in OMIM or in G2P.

Created: 29 Dec 2022, 9:40 p.m. | Last Modified: 29 Dec 2022, 9:40 p.m.

Panel Version: 0.97

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
megacystis-microcolon-intestinal hypoperistalsis syndrome, MONDO:0025986

Publications

• 32621347

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: Encodes a protein involved in the folding of actin, a key step in thin filament formation..

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

Panel Version: 0.2

Mode of inheritance
Unknown

Phenotypes
Loss-of-function of this protein affects the contractility of smooth muscle tissues

Publications

• 32621347