| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dilated Cardiomyopathy v2.9 | MYLK3 | Zornitza Stark Marked gene: MYLK3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v2.9 | MYLK3 | Zornitza Stark Gene: mylk3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v2.9 | MYLK3 | Zornitza Stark Publications for gene: MYLK3 were set to 29235529; 31244672; 32213617; 32870709 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v2.8 | MYLK3 |
Zornitza Stark changed review comment from: 4 monoallelic families reported – PMID 30690923, PMID 29235529 (2 families), PMID 37128901 and 3 biallelic families – PMID 32870709. A mouse knock‑in model and patient‑derived iPSC‑cardiomyocyte rescue (PMID 37128901) provide functional validation. Monoallelic association is Moderate by ClinGen. However, the biallelic association is the one that is pertinent to this panel.; to: 4 monoallelic families reported – PMID 30690923, PMID 29235529 (2 families), PMID 37128901 and 3 biallelic families – PMID 32870709. A mouse knock‑in model and patient‑derived iPSC‑cardiomyocyte rescue (PMID 37128901) provide functional validation. Monoallelic association is Moderate by ClinGen. Biallelic association is paediatric onset. |
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| Dilated Cardiomyopathy v2.8 | Zornitza Stark Copied gene MYLK3 from panel Cardiomyopathy_Paediatric | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v2.8 | MYLK3 |
Zornitza Stark gene: MYLK3 was added gene: MYLK3 was added to Dilated Cardiomyopathy. Sources: Expert Review Amber,Literature Mode of inheritance for gene: MYLK3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYLK3 were set to 29235529; 31244672; 32213617; 32870709 Phenotypes for gene: MYLK3 were set to dilated cardiomyopathy, MONDO:0005021, MYLK3-related |
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| Dilated Cardiomyopathy v0.101 | Zornitza Stark removed gene:MYLK3 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.99 | MYLK3 | Zornitza Stark Marked gene: MYLK3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.99 | MYLK3 | Zornitza Stark Gene: mylk3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.99 | MYLK3 | Zornitza Stark Classified gene: MYLK3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.99 | MYLK3 | Zornitza Stark Gene: mylk3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.98 | MYLK3 |
Zornitza Stark gene: MYLK3 was added gene: MYLK3 was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: MYLK3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYLK3 were set to 29235529; 31244672; 32213617; 32870709 Phenotypes for gene: MYLK3 were set to Dilated cardiomyopathy Review for gene: MYLK3 was set to AMBER Added comment: Two families reported with mono-allelic variants (one extension, one frameshift), and three consanguineous families reported with bi-allelic variants (two hmz frameshift, one hmz missense). Supportive mouse models. Sources: Literature |
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