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| Mendeliome v1.4679 | NEU4 | Zornitza Stark Marked gene: NEU4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4679 | NEU4 | Zornitza Stark Gene: neu4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4679 | NEU4 |
Zornitza Stark gene: NEU4 was added gene: NEU4 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: NEU4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEU4 were set to 41833579 Phenotypes for gene: NEU4 were set to Hearing loss disorder, MONDO:0005365, NEU4-related Review for gene: NEU4 was set to RED Added comment: NEU4 encodes neuraminidase‑14, a sialidase involved in neuraminic acid catabolism and neuronal development. PMID 41833579 reports 2 individuals from a single family with biallelic compound heterozygous missense variants presenting with congenital moderate sensorineural hearing loss. Functional assays demonstrated markedly reduced neuraminidase activity and Neu4‑/‑ mice displayed mild hearing loss, supporting pathogenicity. Sources: Literature |
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