Dilated cardiomyopathy - adult and teenGene: RPL3L
This gene is also present on the Cardiomyopathies - including childhood onset (Version 1.26) panel.
Review by Zornitza Stark:
"PMID: 32514796 - 5 hom/chet individuals from three independent families who presented with severe neonatal dilated cardiomyopathy. Unaffected sibs were either carriers of a single variant or homozygous wildtype."
This gene is not associated with any phenotypes in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 16 Apr 2021, 8:27 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Neonatal dilated cardiomyopathy; dilated cardiomyopathy, MONDO:0005021
Gene: rpl3l has been classified as Amber List (Moderate Evidence).
gene: RPL3L was added gene: RPL3L was added to Dilated cardiomyopathy - adult and teen. Sources: Literature Q2_21_rating tags were added to gene: RPL3L. Mode of inheritance for gene: RPL3L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPL3L were set to 32514796; 32870709 Phenotypes for gene: RPL3L were set to Neonatal dilated cardiomyopathy; dilated cardiomyopathy, MONDO:0005021 Review for gene: RPL3L was set to GREEN