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| Paediatric or syndromic cardiomyopathy v7.50 | JAK1 |
Achchuthan Shanmugasundram changed review comment from: PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort. One of these patients with dilated cardiomyopathy was identified with de novo heterozygous missense variant in JAK1 gene (c.2666T>C/ p.Val889Ala) via reanalysis of data from trio genome sequencing, as this gene was not originally included in the panel. This variant was reported as a likely pathogenic in the publication. PMID:40744288 (2025) reported a mouse model with cardiomyocyte-specific deletion of JAK1, where JAK1 loss in cardiomyocytes results in dilated cardiomyopathy by 6 months of age, indicating cytokine receptor signaling through JAK1 is essential for cardiac physiology. In addition, cardiomyopathy in aged mice lacking cardiomyocyte JAK1 was characterised by substantial myocardial fibrosis. Sources: Literature; to: PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort. One of these patients with dilated cardiomyopathy was identified with de novo heterozygous missense variant in JAK1 gene (c.2666T>C/ p.Val889Ala) via reanalysis of data from trio genome sequencing, as this gene was not originally included in the panel. This variant was reported as likely pathogenic in the publication. PMID:40744288 (2025) reported a mouse model with cardiomyocyte-specific deletion of JAK1, where JAK1 loss in cardiomyocytes results in dilated cardiomyopathy by 6 months of age, indicating cytokine receptor signaling through JAK1 is essential for cardiac physiology. In addition, cardiomyopathy in aged mice lacking cardiomyocyte JAK1 was characterised by substantial myocardial fibrosis. Sources: Literature |
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| Paediatric or syndromic cardiomyopathy v7.50 | JAK1 | Achchuthan Shanmugasundram Classified gene: JAK1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.50 | JAK1 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: Monoallelic variants in JAK1 gene are primarily associated with 'Autoinflammation, immune dysregulation, and eosinophilia' (MIM #618999, accessed on 01 September 2025). However, there is only one case from the UK 100,000 genomes cohort and functional evidence from mouse models in support of the association of monoallelic variants in this gene with dilated cardiomyopathy. Hence, this gene can only be rated amber with the current evidence. |
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| Paediatric or syndromic cardiomyopathy v7.50 | JAK1 | Achchuthan Shanmugasundram Gene: jak1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.49 | JAK1 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.49 | JAK1 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype accessed on 01 September 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.49 | JAK1 | Achchuthan Shanmugasundram Phenotypes for gene: JAK1 were changed from Autoinflammation, immune dysregulation, and eosinophilia, OMIM:618999; autoinflammation, immune dysregulation, and eosinophilia, MONDO:0033558; dilated cardiomyopathy, MONDO:0005021 to Autoinflammation, immune dysregulation, and eosinophilia, OMIM:618999; autoinflammation, immune dysregulation, and eosinophilia, MONDO:0033558; dilated cardiomyopathy, MONDO:0005021 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.48 | JAK1 |
Achchuthan Shanmugasundram gene: JAK1 was added gene: JAK1 was added to Paediatric or syndromic cardiomyopathy. Sources: Literature Mode of inheritance for gene: JAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: JAK1 were set to 39472908; 40744288 Phenotypes for gene: JAK1 were set to Autoinflammation, immune dysregulation, and eosinophilia, OMIM:618999; autoinflammation, immune dysregulation, and eosinophilia, MONDO:0033558; dilated cardiomyopathy, MONDO:0005021 Review for gene: JAK1 was set to AMBER Added comment: PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort. One of these patients with dilated cardiomyopathy was identified with de novo heterozygous missense variant in JAK1 gene (c.2666T>C/ p.Val889Ala) via reanalysis of data from trio genome sequencing, as this gene was not originally included in the panel. This variant was reported as a likely pathogenic in the publication. PMID:40744288 (2025) reported a mouse model with cardiomyocyte-specific deletion of JAK1, where JAK1 loss in cardiomyocytes results in dilated cardiomyopathy by 6 months of age, indicating cytokine receptor signaling through JAK1 is essential for cardiac physiology. In addition, cardiomyopathy in aged mice lacking cardiomyocyte JAK1 was characterised by substantial myocardial fibrosis. Sources: Literature |
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