PanelApp (stage)
  1. Genes and Genomic Entities
  2. PKD1L1

PKD1L1

polycystin 1 like 1, transient receptor potential channel interacting
OMIM: 609721, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green PKD1L1 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.418

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Heterotaxy, visceral, 8, autosomal
  • HTX8 (MIM617205)

Green PKD1L1 in Heterotaxy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.32

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Heterotaxy, visceral, 8, autosomal (MIM#617205)
  • heterotaxy and congenital heart disease without pulmonary ciliary dyskinesia

Green PKD1L1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Heterotaxy, visceral, 8, autosomal (MIM#617205)

Green PKD1L1 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Heterotaxy, visceral, 8, autosomal (MIM#617205)