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| Dilated and arrhythmogenic cardiomyopathy v2.4 | RPL3L | Arina Puzriakova Tag Q2_21_rating was removed from gene: RPL3L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v2.4 | RPL3L | Arina Puzriakova reviewed gene: RPL3L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v1.17 | RPL3L | Ivone Leong Classified gene: RPL3L as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v1.17 | RPL3L | Ivone Leong Gene: rpl3l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v1.16 | RPL3L |
Ivone Leong 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 Added comment: 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 |
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