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| Mendeliome v1.3332 | KLK15 |
Sangavi Sivagnanasundram gene: KLK15 was added gene: KLK15 was added to Mendeliome. Sources: Other Mode of inheritance for gene: KLK15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KLK15 were set to 40949095 Phenotypes for gene: KLK15 were set to hypermobile Ehlers-Danlos syndrome MONDO:0007523 Review for gene: KLK15 was set to AMBER Added comment: Two unrelated families with individuals affected with hEDS Heterozygous p.Gly226Asp was identified in both families and segregated with disease across other affected individuals and not presented in unaffected family members. Note: p.Gly226Asp - FAF 0.4970% in gnomAD v4.1 CRISPR-Cas9-generated Klk15G224D/+ knock in mouse model showed a decrease in tendon elasicity, mitral valve prolapse, collagen fibril thinning which is supportive to show the mouse model recapitulated human phenotype. More evidence is required to support gene-disease association given only one variant in two families and supportive mouse model have been reported. Sources: Other |
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