ClinGen_Familial thoracic aortic aneurysm and aortic dissection

Gene: PKD1

Red List (low evidence)

PKD1 (polycystin 1, transient receptor potential channel interacting)
EnsemblGeneIds (GRCh38): ENSG00000008710
EnsemblGeneIds (GRCh37): ENSG00000008710
OMIM: 601313, Gene2Phenotype
PKD1 is in 16 panels

1 review

Ellen McDonagh (Genomics England Curator)

This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.
Created: 23 Jun 2017, 1:06 p.m.

History Filter Activity

22 Jun 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PKD1 was created by ellenmcdonagh

22 Jun 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PKD1 was added to ClinGen_Familial thoracic aortic aneurysm and aortic dissectionpanel. Sources: ClinGen,Expert Review Red