Activity
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3 actions
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| Heterotaxy v1.7 | DNAH2 | Zornitza Stark Marked gene: DNAH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v1.7 | DNAH2 | Zornitza Stark Gene: dnah2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v1.7 | DNAH2 |
Zornitza Stark gene: DNAH2 was added gene: DNAH2 was added to Heterotaxy. Sources: Literature Mode of inheritance for gene: DNAH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH2 were set to 32732226 Phenotypes for gene: DNAH2 were set to Hydrops; complex congenital heart disease; heterotaxy Review for gene: DNAH2 was set to RED Added comment: Novel candidate gene identified in a fetus with hydrops and complex cardiopathy detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, heterotaxy, complex cardiopathy, hypotrophic splenium, and common mesentery. Compound heterozygous variants including a truncating variant were found by exome sequencing. Sources: Literature |
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