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| Mendeliome v1.4775 | FOXJ3 | Rylee Peters Classified gene: FOXJ3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4775 | FOXJ3 | Rylee Peters Gene: foxj3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4733 | FOXJ3 |
Rylee Peters changed review comment from: PMID: 41803108 reports 5 individuals from 3 unrelated families with heterozygous missense FOXJ3 variants and autosomal dominant focal epilepsy with or without focal cortical dysplasia. The missense variants, p.N351S, p.I621V and p.P253T have 10 hets, 11 hets and 8 hets in gnomAD v4, respectively. Foxj3 knockdown in mouse brains results in neuronal migration defects. Functional assays demonstrate loss‑of‑function, reduced PTEN, mTOR hyper‑activation and neuronal migration defects. Sources: Literature; to: PMID: 41803108 reports 5 individuals from 3 unrelated families with heterozygous missense FOXJ3 variants and autosomal dominant focal epilepsy with or without focal cortical dysplasia. The missense variants, p.N351S, p.I621V and p.P253T have 10 hets, 11 hets and 8 hets in gnomAD v4, respectively. Foxj3 knockdown in mouse brains results in neuronal migration defects. Sources: Literature |
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| Mendeliome v1.4733 | FOXJ3 |
Rylee Peters gene: FOXJ3 was added gene: FOXJ3 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: FOXJ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXJ3 were set to 41803108 Phenotypes for gene: FOXJ3 were set to Focal epilepsy, MONDO:0005384, FOXJ3-related Review for gene: FOXJ3 was set to AMBER Added comment: PMID: 41803108 reports 5 individuals from 3 unrelated families with heterozygous missense FOXJ3 variants and autosomal dominant focal epilepsy with or without focal cortical dysplasia. The missense variants, p.N351S, p.I621V and p.P253T have 10 hets, 11 hets and 8 hets in gnomAD v4, respectively. Foxj3 knockdown in mouse brains results in neuronal migration defects. Functional assays demonstrate loss‑of‑function, reduced PTEN, mTOR hyper‑activation and neuronal migration defects. Sources: Literature |
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