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Dilated Cardiomyopathy and conduction defects v1.55 PDLIM3 Rebecca Whittington commented on gene: PDLIM3: No phenotype on OMIM
Dilated Cardiomyopathy and conduction defects v1.54 PDLIM3 Rebecca Whittington commented on gene: PDLIM3: 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.
Dilated Cardiomyopathy and conduction defects v1.53 PDLIM3 Rebecca Whittington reviewed gene: PDLIM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.47 PDLIM3 Ellen McDonagh Source South West GLH was added to PDLIM3.