Paediatric pseudo-obstruction syndrome
Gene: PDCL3
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
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
Phenotypes for gene: PDCL3 were changed from to Megacystis-microcolon-intestinal hypoperistalsis syndrome, MONDO:0025986
Publications for gene: PDCL3 were set to
Mode of inheritance for gene: PDCL3 was changed from to BIALLELIC, autosomal or pseudoautosomal
gene: PDCL3 was added gene: PDCL3 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: PDCL3 was set to