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  2. Gastrointestinal neuromuscular disease
  3. PDCL3
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Gastrointestinal neuromuscular disease

Gene: PDCL3

Amber List (moderate evidence)
PDCL3 (phosducin like 3)
EnsemblGeneIds (GRCh38): ENSG00000115539
EnsemblGeneIds (GRCh37): ENSG00000115539
OMIM: 611678, Gene2Phenotype
PDCL3 is in 2 panels

1 review

Shannon LeBlanc (Victorian Clinical Genetics Services)

I don't know

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
Created: 3 Jan 2021, 11:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
megacystis-microcolon

Publications

Created: 3 Jan 2021, 11:25 p.m.

Panel version: 0.32

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • megacystis-microcolon
OMIM
611678
Clinvar variants
Variants in PDCL3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pdcl3 has been classified as Amber List (Moderate Evidence).

30 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pdcl3 has been classified as Amber List (Moderate Evidence).

3 Jan 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Shannon LeBlanc (Victorian Clinical Genetics Services)

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