GMS Respiratory specialist test group Laterality disorders and isomerism
Gene: PKD1L1

PKD1L1 (polycystin 1 like 1, transient receptor potential channel interacting)
EnsemblGeneIds (GRCh38): ENSG00000158683
EnsemblGeneIds (GRCh37): ENSG00000158683
OMIM: 609721, Gene2Phenotype
PKD1L1 is in 5 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: PKD1L1; Suggested intial gene rating: Green; Evidence for inclusion: OMIM PCD or Visceral heterotaxy gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 26 Nov 2018, 2:25 p.m.

Created: 26 Nov 2018, 2:25 p.m.

Panel version: 0.1

Details

Sources

Expert Review Green
NHS GMS

OMIM

609721

Clinvar variants

Variants in PKD1L1

Penetrance

None

Panels with this gene

History Filter Activity

26 Nov 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to PKD1L1. Rating Changed from Red List (low evidence) to Green List (high evidence)

26 Nov 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance