RBM20

RBM20

A gene on chromosome 10q25.2 that encodes a putative RNA-binding protein.

Molecular pathology
RBM20 mutations are associated with familial dilated cardiomyopathy.
References in periodicals archive ?
Of the first 70 people who underwent genome sequencing, 12 had pathogenic mutations that are clinically actionable, including mutations in BRCA1, which is associated with breast and ovarian cancer; APC and MUTYH, which are associated with colon cancer; SHBD, which is associated with a high frequency of neuroendocrine tumors; and RBM20, which is associated with dilated cardiomyopathy.
Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy.
Did the authors exclude mutations in nDNA-located genes which have been shown to cause dCMP, such as MYH7 , MYBPC3 , LMNA , TNNI3 , TNNT2 , ACTC1 , TPM1 , SCN5A , MYL2 , MYH6 , MYL3 , PLEKHM2 , HAND1 , RBM20 , FBXO32 , DES , YBPC3 , MYPN , and PRKAG2 ?