Paediatric or syndromic cardiomyopathy
Gene: RPL3LAfter 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
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: LiteratureCreated: 7 Jan 2021, 9:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neonatal dilated cardiomyopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: RPL3L.
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