Activity
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3 actions
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| Fetal hydrops v1.100 | DOK7 | Arina Puzriakova Classified gene: DOK7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.100 | DOK7 | Arina Puzriakova Gene: dok7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.16 | DOK7 |
Zornitza Stark gene: DOK7 was added gene: DOK7 was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOK7 were set to 31880392; 19261599 Phenotypes for gene: DOK7 were set to Fetal akinesia sequence, MIM#618389 Review for gene: DOK7 was set to AMBER gene: DOK7 was marked as current diagnostic Added comment: Two unrelated families reported with fetal akinesia deformation sequence, hydrops is a feature. The gene also causes a less severe phenotype (congenital myasthenic syndrome 10), hydrops is not a feature of this. Sources: Expert list |
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