Hypertrophic cardiomyopathy - teen and adult

Gene: PDLIM3

Red List (low evidence)

PDLIM3 (PDZ and LIM domain 3)
EnsemblGeneIds (GRCh38): ENSG00000154553
EnsemblGeneIds (GRCh37): ENSG00000154553
OMIM: 605889, Gene2Phenotype
PDLIM3 is in 5 panels

2 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

No phenotype
Created: 25 Mar 2019, 4:30 p.m.
Possibly associated with DCM but not alot of literature evidence. Does not appear to be associated with HCM.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to PDLIM3. Mode of inheritance for gene PDLIM3 was changed from to Unknown

13 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PDLIM3 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list