Activity
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9 actions
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| 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 v0.62 | TTR | Ivone Leong Classified gene: TTR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.62 | TTR | Ivone Leong Gene: ttr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.61 | TTR | Ivone Leong Publications for gene: TTR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.60 | TTR | Ivone Leong changed review comment from: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; to: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.60 | TTR | Ivone Leong edited their review of gene: TTR: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.16 | TTR | Ivone Leong reviewed gene: TTR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.15 | TTR |
Ivone Leong Source Expert Review Red was added to TTR. Source NHS GMS was added to TTR. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Paediatric or syndromic cardiomyopathy v0.1 | TTR |
Ivone Leong gene: TTR was added gene: TTR was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Amber,South West GLH Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TTR were set to syndromic HCM |
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