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PDLIM5

Synonyms
ENH, ENH1, L9, LIM
External resources
Summary
This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold protein that tethers protein kinases to the Z-disk in striated muscles. It is thought to function in cardiomyocyte expansion and in restraining postsynaptic growth of excitatory synapses. Alternative splicing of this gene results in multiple transcript variants.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
14,517
Likely benign
1,684
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PDLIM5 gene.

Phenotype class
Patients in 3billion (%)

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