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| Mendeliome v2.96 | ADGRL2 | Zornitza Stark Marked gene: ADGRL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.96 | ADGRL2 | Zornitza Stark Gene: adgrl2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.96 | ADGRL2 |
Zornitza Stark gene: ADGRL2 was added gene: ADGRL2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ADGRL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ADGRL2 were set to 30340542 Phenotypes for gene: ADGRL2 were set to Neurodevelopmental disorder, MONDO:0700092, ADGRL2-related Review for gene: ADGRL2 was set to RED Added comment: Single individual reported with de novo missense variant, in a fetus with extreme microcephaly with almost no sulcation and rhombencephalosynapsis. Embryonic lethality was observed in constitutive Adgrl2-/- mice. In Adgrl2+/- mice, MRI studies revealed microcephaly and vermis hypoplasia. Sources: Literature |
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