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| Mendeliome v1.2083 | ANKRD24 | Ain Roesley Marked gene: ANKRD24 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2083 | ANKRD24 | Ain Roesley Gene: ankrd24 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2083 | ANKRD24 |
Ain Roesley gene: ANKRD24 was added gene: ANKRD24 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ANKRD24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANKRD24 were set to PMID: 39434538 Phenotypes for gene: ANKRD24 were set to sensorineural hearing loss disorder MONDO:0020678, ANKRD24-related Review for gene: ANKRD24 was set to RED gene: ANKRD24 was marked as current diagnostic Added comment: 1 consanguineous family with postlingual, moderate-to-severe autosomal recessive SNHL 2 affecteds homozygous for c.1934_1937del; (p.Thr645Lysfs*52), which is NMD-predicted Sources: Literature |
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