Genomics England
GMS Panels
Panels
Genes and Entities

PKD1L1

polycystin 1 like 1, transient receptor potential channel interacting
OMIM: 609721
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Laterality defects
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Laterality defects
Green
in Laterality disorders and isomerism
R-numbers: R139
Signed-off version 3.9
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Heterotaxy, visceral, 8, autosomal, 617205