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Paediatric or syndromic cardiomyopathy

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

2 reviews

Ivone Leong (Genomics England Curator)

After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Created: 3 Mar 2022, 1:12 p.m. | Last Modified: 3 Mar 2022, 1:18 p.m.
Panel Version: 1.65
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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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.
Sources: Literature
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


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Amber
  • Neonatal dilated cardiomyopathy
  • dilated cardiomyopathy, MONDO:0005021
Clinvar variants
Variants in RPL3L
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 2

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating was removed from gene: RPL3L.

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: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: RPL3L.

16 Apr 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: RPL3L were changed from Neonatal dilated cardiomyopathy to Neonatal dilated cardiomyopathy; dilated cardiomyopathy, MONDO:0005021

7 Jan 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

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