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Mendeliome v0.7945 | DNAH2 | Zornitza Stark edited their review of gene: DNAH2: Added comment: PMID 32732226: compound het variants identified in a fetus with hydrops and complex congenital heart disease detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, heterotaxy, complex congenital heart disease, hypotrophic splenium, and common mesentery.; Changed publications: 30811583, 32732226; Changed phenotypes: Spermatogenic failure 45, MIM# 619094, Heterotaxy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.5373 | DNAH2 | Zornitza Stark Marked gene: DNAH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.5373 | DNAH2 | Zornitza Stark Gene: dnah2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.5373 | DNAH2 | Zornitza Stark Classified gene: DNAH2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.5373 | DNAH2 | Zornitza Stark Gene: dnah2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.5372 | DNAH2 |
Zornitza Stark gene: DNAH2 was added gene: DNAH2 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: DNAH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH2 were set to 30811583 Phenotypes for gene: DNAH2 were set to Spermatogenic failure 45, MIM# 619094 Review for gene: DNAH2 was set to GREEN Added comment: Three unrelated families reported. Sources: Expert list |