Dilated Cardiomyopathy and conduction defects
Gene: PDLIM3
PDLIM3 (PDZ and LIM domain 3)
EnsemblGeneIds (GRCh38): ENSG00000154553
EnsemblGeneIds (GRCh37): ENSG00000154553
OMIM: 605889, Gene2Phenotype
PDLIM3 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000154553
EnsemblGeneIds (GRCh37): ENSG00000154553
OMIM: 605889, Gene2Phenotype
PDLIM3 is in 5 panels
2 reviews
Rebecca Whittington (South West GLH)
No phenotype on OMIMCreated: 25 Mar 2019, 4:30 p.m.
Possibly associated with DCM but not alot of literature evidence: Pashmforoush M et al (2001). Adult mice deficient in actin-associated LIM-domain protein reveal a developmental pathway for right ventricular cardiomyopathy. Nat Med 7(5):591-7. HGMD - 2 truncating variants detected with DCM, Haas 2015 - listed as a candidate variant with no other evidence and Arola 2017 ( Arola (2007) Mol Genet Metab 90, 435): 1 patient with a frameshift variant - patient presented in pregnancy and died a year later, mother may have had AVB but no family studies reported - this variant has 9 alleles listed on GnomAD.Created: 25 Mar 2019, 4:27 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Sources
-
- South West GLH
- Emory Genetics Laboratory
- Expert list
- OMIM
- 605889
- Clinvar variants
- Variants in PDLIM3
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
21 Feb 2019, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to PDLIM3.
14 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PDLIM3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list,Emory Genetics Laboratory
14 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)PDLIM3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list,Emory Genetics Laboratory