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| Mendeliome v1.4543 | XPOT | Zornitza Stark Marked gene: XPOT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4543 | XPOT | Zornitza Stark Gene: xpot has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4543 | XPOT | Zornitza Stark Classified gene: XPOT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4543 | XPOT | Zornitza Stark Gene: xpot has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4542 | XPOT |
Zornitza Stark gene: XPOT was added gene: XPOT was added to Mendeliome. Sources: Literature preprint tags were added to gene: XPOT. Mode of inheritance for gene: XPOT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPOT were set to 10.64898/2026.01.28.26344748 Phenotypes for gene: XPOT were set to Syndromic disease, MONDO:0002254 Review for gene: XPOT was set to GREEN Added comment: Preprint by Von Hardenberg et al 2026 reports 8 individuals from 5 unrelated families with biallelic loss‑of‑function XPOT variants presenting with childhood‑onset severe sensorineural hearing loss, recurrent infections/bronchiectasis, developmental delay and growth retardation. Functional studies show absent XPOT protein in patient fibroblasts, reduced TNF‑α translation, and xpot‑deficient zebrafish recapitulating the multisystem phenotype. All reported variants are homozygous. Sources: Literature |
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