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| Hydrocephalus_Ventriculomegaly v0.88 | ZNF3 | Zornitza Stark Marked gene: ZNF3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.88 | ZNF3 | Zornitza Stark Gene: znf3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.88 | ZNF3 |
Zornitza Stark gene: ZNF3 was added gene: ZNF3 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: ZNF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF3 were set to 32732226 Phenotypes for gene: ZNF3 were set to Hydrocephalus; cleft palate; microphthalmia Review for gene: ZNF3 was set to RED Added comment: Novel candidate gene identified in a fetus with hydrocephaly and facial cleft detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including a median cleft palate, partial maxillar agenesis, bilateral severe microphthalmia, arhinencephaly, partial thalamic fusion. A homozygous truncating variant (c.396A>G/ p.*132Trpext*69) in ZNF3 was found by exome sequencing. Sources: Literature |
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