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| Cardiomyopathy_Paediatric v1.108 | MYLK3 | Zornitza Stark Phenotypes for gene: MYLK3 were changed from Dilated cardiomyopathy to dilated cardiomyopathy, MONDO:0005021, MYLK3-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.107 | MYLK3 |
Zornitza Stark edited their review of gene: MYLK3: Added comment: 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.; Changed publications: 37128901, 32870709, 30690923, 29235529; Changed phenotypes: dilated cardiomyopathy, MONDO:0005021 |
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| Cardiomyopathy_Paediatric v1.0 | MYLK3 | Gene migrated from ENSG00000140795 to ENSG00000140795 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.54 | MYLK3 | Zornitza Stark Marked gene: MYLK3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.54 | MYLK3 | Zornitza Stark Gene: mylk3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.54 | MYLK3 | Zornitza Stark Classified gene: MYLK3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.54 | MYLK3 | Zornitza Stark Gene: mylk3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.53 | MYLK3 |
Zornitza Stark gene: MYLK3 was added gene: MYLK3 was added to Cardiomyopathy_Paediatric. 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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