Activity
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19 actions
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| Paediatric or syndromic cardiomyopathy v7.93 | RPL3L | Matthew Edwards changed review comment from: functional data is limited, but good genetic evidence (see papers above), ClinGen DCM expert panl group ahve recently rated as moderate gene for DCM, and onset is early; to: functional data is limited, but good genetic evidence (see papers above), ClinGen DCM expert panl group ahve recently rated as moderate gene for DCM, and onset is early | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.93 | RPL3L | Matthew Edwards reviewed gene: RPL3L: Rating: GREEN; Mode of pathogenicity: None; Publications: PMIDs: 8921388, 32870709, 35323613, 32514796, 36291431, 37308880; Phenotypes: Dilated Cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.91 | RPL3L |
Arina Puzriakova Tag Q3_24_NHS_review tag was added to gene: RPL3L. Tag Q3_25_promote_green tag was added to gene: RPL3L. Tag Q3_25_expert_review tag was added to gene: RPL3L. |
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| Paediatric or syndromic cardiomyopathy v7.91 | RPL3L | Arina Puzriakova Publications for gene: RPL3L were set to 32514796; 32870709 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.90 | RPL3L | Arina Puzriakova Classified gene: RPL3L as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.90 | RPL3L |
Arina Puzriakova Added comment: Comment on list classification: There are now at least 14 individuals from 11 families with severe early-onset dilated cardiomyopathy. Almost all attributed to compound heterozygous missense variants (also 3 frameshift and 1 splice-site) but the underlying mechanism remains poorly understood. Notably, RPL3L knockout in mice did not result in any severe heart defects. (PMID: 32514796; 32870709; 36291431; 35323613; 37308880; 39803500; 40820268) The number of cases reported supports inclusion on this panel as Green, but given that mouse models are conflicting and this addition was rejected in a previous GMS panel release, tagging for additional GMS expert review to determine the appropriate rating. |
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| Paediatric or syndromic cardiomyopathy v7.90 | RPL3L | Arina Puzriakova Gene: rpl3l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.89 | RPL3L | Arina Puzriakova Added comment: Comment on phenotypes: This gene now has a phenotype listed in OMIM: Cardiomyopathy, dilated, 2D, OMIM:619371 (accessed on 09-10-2025) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.89 | RPL3L | Arina Puzriakova Phenotypes for gene: RPL3L were changed from Neonatal dilated cardiomyopathy; dilated cardiomyopathy, MONDO:0005021 to Cardiomyopathy, dilated, 2D, OMIM:619371 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.86 | RPL3L | Riyaad Aungraheeta reviewed gene: RPL3L: Rating: ; Mode of pathogenicity: Other; Publications: PMID: 40820268; Phenotypes: Neonatal dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.65 | RPL3L | Ivone Leong Tag Q2_21_rating was removed from gene: RPL3L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.65 | RPL3L | Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.65 | RPL3L | Ivone Leong commented on gene: RPL3L: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.26 | RPL3L | Ivone Leong Classified gene: RPL3L as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.26 | RPL3L | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.26 | RPL3L | Ivone Leong Gene: rpl3l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.25 | RPL3L | Ivone Leong Tag Q2_21_rating tag was added to gene: RPL3L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.25 | RPL3L | Ivone Leong Phenotypes for gene: RPL3L were changed from Neonatal dilated cardiomyopathy to Neonatal dilated cardiomyopathy; dilated cardiomyopathy, MONDO:0005021 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.18 | RPL3L |
Zornitza Stark 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 Added comment: 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 |
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