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| Mendeliome v1.4065 | FOXK2 | Zornitza Stark Marked gene: FOXK2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4065 | FOXK2 | Zornitza Stark Gene: foxk2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4065 | FOXK2 |
Zornitza Stark gene: FOXK2 was added gene: FOXK2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: FOXK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXK2 were set to 40410591 Phenotypes for gene: FOXK2 were set to Myopathy, MONDO:0005336, FOXK2-related Review for gene: FOXK2 was set to RED Added comment: PMID 40410591 reports five affected individuals from one family with isolated congenital ptosis and additional affected individuals from four families with congenital myopathy and ptosis, all carrying heterozygous missense variants in FOXK2 inherited in an autosomal dominant manner; functional assays in zebrafish, muscle‑specific mouse knockout, and FOXK2‑KO C2C12 cells demonstrate reduced protein levels, impaired myogenic differentiation and mitochondrial dysfunction that are rescued by wild‑type FOXK2. However, all the variants are present in gnomAD, including one in over 2,000 individuals, hence Red rating. Sources: Literature |
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