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| Mendeliome v1.3869 | PBXIP1 | Zornitza Stark Marked gene: PBXIP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3869 | PBXIP1 | Zornitza Stark Gene: pbxip1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3869 | PBXIP1 |
Zornitza Stark gene: PBXIP1 was added gene: PBXIP1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PBXIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PBXIP1 were set to 39786576; 38947059 Phenotypes for gene: PBXIP1 were set to non-syndromic genetic hearing loss, MONDO:0019497, PBXIP1-related Review for gene: PBXIP1 was set to RED Added comment: One individual from a consanguineous family with a homozygous nonsense PBXIP1 variant (c.1722G>A; p.Trp574*) causing bilateral cochlear aplasia and congenital profound sensorineural hearing loss. Functional studies using iPSC‑derived organoids with knockout and knock‑in of the nonsense allele recapitulate the human phenotype, supporting a loss‑of‑function disease mechanism. Sources: Literature |
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