Cardiomyopathies - including childhood onsetGene: RPL3L
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). 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, 8:24 a.m. | Last Modified: 16 Apr 2021, 8:24 a.m.
Panel Version: 1.26
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.
Created: 7 Jan 2021, 9:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Neonatal dilated cardiomyopathy
Variants in this GENE are reported as part of current diagnostic practice
Gene: rpl3l has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: RPL3L.
Phenotypes for gene: RPL3L were changed from Neonatal dilated cardiomyopathy to Neonatal dilated cardiomyopathy; dilated cardiomyopathy, MONDO:0005021
gene: RPL3L was added gene: RPL3L was added to Cardiomyopathies - including childhood onset. Sources: Literature 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 Review for gene: RPL3L was set to GREEN gene: RPL3L was marked as current diagnostic