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| Mendeliome v1.1403 | KCNJ3 | Zornitza Stark Marked gene: KCNJ3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1403 | KCNJ3 | Zornitza Stark Gene: kcnj3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1403 | KCNJ3 | Zornitza Stark Classified gene: KCNJ3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1403 | KCNJ3 | Zornitza Stark Gene: kcnj3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1402 | KCNJ3 |
Daniel Flanagan gene: KCNJ3 was added gene: KCNJ3 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: KCNJ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNJ3 were set to PMID: 37963718 Phenotypes for gene: KCNJ3 were set to Epilepsy (MONDO#0005027), KCNJ3-related Review for gene: KCNJ3 was set to AMBER Added comment: Two de novo missense variants, p.(Leu333Ser) and p.(Arg313Gln), were identified in two unrelated probands with epilepsy. 1/2 had developmental delay. Whole-cell patch-clamp functional studies showed a significantly reduction in current amplitude and density. Kcnj3-knockout mice display hyperactivity and decreased anxiety, while a knock-in mouse line displays spontaneous seizure-like activity. Sources: Expert list |
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