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| Congenital Heart Defect v0.432 | DZIP1 | Bryony Thompson Classified gene: DZIP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.432 | DZIP1 | Bryony Thompson Gene: dzip1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.431 | DZIP1 |
Bryony Thompson gene: DZIP1 was added gene: DZIP1 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: DZIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DZIP1 were set to 33811421; 31118289 Phenotypes for gene: DZIP1 were set to mitral valve prolapse MONDO:0004910 Review for gene: DZIP1 was set to AMBER Added comment: Two unrelated families segregating 2 different missense variants (S24R - 53 hets and C585W - 12,414 alleles & 74 homs in gnomAD v4.1) with mitral valve prolapse. 2 rare missense (Pro47Leu - 10 hets & Arg267Ile - 118 hets in gnomAD v) identified in 2 unrelated sporadic MVP cases. Supporting mouse model of S24R impaired ciliogenesis during development, which progressed to adult myxomatous valve disease and functional MVP. Sources: Literature |
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