ClinGen_Familial thoracic aortic aneurysm and aortic dissection

Gene: PLOD1

Red List (low evidence)

PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1)
EnsemblGeneIds (GRCh38): ENSG00000083444
EnsemblGeneIds (GRCh37): ENSG00000083444
OMIM: 153454, Gene2Phenotype
PLOD1 is in 11 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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
OMIM
153454
Clinvar variants
Variants in PLOD1
Penetrance
Complete
Panels with this gene

History Filter Activity

22 Jun 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PLOD1 was created by ellenmcdonagh

22 Jun 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PLOD1 was added to ClinGen_Familial thoracic aortic aneurysm and aortic dissectionpanel. Sources: ClinGen,Expert Review Red