Ductal plate malformation

Gene: PKD1L1

Red List (low evidence)

PKD1L1 (polycystin 1 like 1, transient receptor potential channel interacting)
EnsemblGeneIds (GRCh38): ENSG00000158683
EnsemblGeneIds (GRCh37): ENSG00000158683
OMIM: 609721, Gene2Phenotype
PKD1L1 is in 6 panels

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Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Radboud University Medical Center, Nijmegen, Expert list
  • Heterotaxy, visceral, 8, autosomal (617205)
Clinvar variants
Variants in PKD1L1
Panels with this gene

History Filter Activity

30 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ivone Leong: Porous bile ducts reported in

12 Nov 2018, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: PKD1L1 was added gene: PKD1L1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: PKD1L1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PKD1L1 were set to Heterotaxy, visceral, 8, autosomal (617205)