Dilated cardiomyopathy - adult and teen

Gene: RPL3L

Amber List (moderate evidence)

RPL3L (ribosomal protein L3 like)
EnsemblGeneIds (GRCh38): ENSG00000140986
EnsemblGeneIds (GRCh37): ENSG00000140986
OMIM: 617416, Gene2Phenotype
RPL3L is in 2 panels

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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.
Sources: Literature
Created: 16 Apr 2021, 8:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neonatal dilated cardiomyopathy; dilated cardiomyopathy, MONDO:0005021

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neonatal dilated cardiomyopathy
  • dilated cardiomyopathy, MONDO:0005021
Tags
Q2_21_rating
OMIM
617416
Clinvar variants
Variants in RPL3L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: rpl3l has been classified as Amber List (Moderate Evidence).

16 Apr 2021, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

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