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| Mendeliome v1.3079 | GBX1 | Zornitza Stark Marked gene: GBX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3079 | GBX1 | Zornitza Stark Gene: gbx1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3079 | GBX1 |
Zornitza Stark gene: GBX1 was added gene: GBX1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: GBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GBX1 were set to 40519143 Phenotypes for gene: GBX1 were set to Neurodevelopmental disorder, MONDO:0700092, GBX1-related Review for gene: GBX1 was set to RED Added comment: Single individual with de novo LoF variant with DD and focal epilepsy. Zebrafish model had abnormal morphology of the interocular area. Furthermore, the zebrafish larvae exhibited an increased susceptibility to neurophysiological abnormalities associated with epileptiform activity. Sources: Literature |
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