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| Hypertrophic cardiomyopathy v1.81 | LZTR1 | Ivone Leong reviewed gene: LZTR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.79 | LZTR1 |
Ivone Leong Source Expert Review Red was added to LZTR1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Hypertrophic cardiomyopathy v1.74 | LZTR1 | James Eden reviewed gene: LZTR1: Rating: RED; Mode of pathogenicity: None; Publications: 30732632; Phenotypes: Noonan syndrome 10 (616564), Noonan syndrome 2 (605275); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.74 | LZTR1 | Matthew Edwards reviewed gene: LZTR1: Rating: RED; Mode of pathogenicity: None; Publications: 30732632; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.46 | LZTR1 | Ellen McDonagh Classified gene: LZTR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.46 | LZTR1 | Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to new review from Anna De Burca, and clinical advise that this gene would be suitable to include on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.46 | LZTR1 | Ellen McDonagh Gene: lztr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.40 | LZTR1 |
Anna de Burca gene: LZTR1 was added gene: LZTR1 was added to Hypertrophic cardiomyopathy - teen and adult. Sources: Literature Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LZTR1 were set to 30368668; 30732632 Phenotypes for gene: LZTR1 were set to RASopathy-associated cardiomyopathy Review for gene: LZTR1 was set to GREEN Added comment: PMID:30368668 describes the clinical phenotype of 7 unrelated patients with Noonan or Noonan-like syndrome associated with monoallelic or biallelic variants in LZTR1. Five of the patients (one with biallelic variants and four with monoallelic variants) had hypertrophic cardiomyopathy. PMID:30732632 describes the phenotype in 46 unrelated children with RASopathy derived from a cohort of 168 paediatric HCM patients. One of the 46 children with RASopathy had compound heterozygous missense variants in LZTR1, although it is unclear whether this gene was tested in all participants, as it was not included in the exome-based 'expanded cardiomyopathy' panel applied. Given the phenotypic variability of Noonan syndrome, it seems plausible that mild cases could present with apparently isolated hypertrophic cardiomyopathy. Sources: Literature |
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