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| Mendeliome v1.2789 | ZNF597 | Zornitza Stark Marked gene: ZNF597 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2789 | ZNF597 | Zornitza Stark Gene: znf597 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2789 | ZNF597 |
Zornitza Stark gene: ZNF597 was added gene: ZNF597 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: ZNF597 was set to Other Publications for gene: ZNF597 were set to 19968752; 28157578; 32576657 Phenotypes for gene: ZNF597 were set to Recurrent pregnancy loss susceptibility, MONDO:0000144 Review for gene: ZNF597 was set to RED Added comment: ZNF597 is an imprinted gene- maternally expressed and paternally imprinted. - ZNF597 is highly expressed in the placenta and proposed to have an important role in placental development. - Knockout ZNF597 mice (homozygous -/-) is embryonic lethal due to failed embryonic organization before cardiogenesis at embryonic day 7.5. This period is equivalent to human Carnegie Stage 9 that occurs during week 3 between 19 to 21 days (5 weeks' gestation). - Literature associated with ZNF597 including maternal uniparental disomy of chromosome 16 (UPD(16)mat) or loss of paternal imprinting of ZNF59, resulting in an overexpression of ZNF597. - Unpublished in-house data/observation: A heterozygous deletion with a breakpoint in ZNF597 was observed in the female partner of a couple experiencing x4 early pregnancy loss at 5-8 weeks' gestation. Sources: Expert list |
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