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| Gastrointestinal neuromuscular disease v0.60 | PDCL3 | Zornitza Stark Marked gene: PDCL3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.60 | PDCL3 | Zornitza Stark Gene: pdcl3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.60 | PDCL3 | Zornitza Stark Classified gene: PDCL3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.60 | PDCL3 | Zornitza Stark Gene: pdcl3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.32 | PDCL3 |
Shannon LeBlanc gene: PDCL3 was added gene: PDCL3 was added to Gastrointestinal neuromuscular disease. Sources: Literature Mode of inheritance for gene: PDCL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDCL3 were set to PMID: 32621347 Phenotypes for gene: PDCL3 were set to megacystis-microcolon Review for gene: PDCL3 was set to AMBER Added comment: Single publication (PMID 32621347): one family with two affected fetuses - one with megacystis and microcolon, and the other with megacystisis and bilateral diaphragmatic hernia (prune-belly phenotype). Compound het LOF variants in PDCL3 (one frameshift and one missense). Complete absence of PDLC3 expression demonstrated in one of the affected fetuses. No homozygous LOF PDCL3 variants in gnomAD. PCDL3 negatively modulates actin folding and is strongly expressed in smooth muscle of bladder and colon. Sources: Literature |
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