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| Genomic newborn screening: BabyScreen+ v2.0 | PJVK | Gene symbol changed from DFNB59 to PJVK during gene set migration (ENSG00000204311 -> ENSG00000204311) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.869 | DFNB59 |
Zornitza Stark commented on gene: DFNB59: DEFINITIVE by ClinGen, over 50 affected individuals from more than 10 families reported, supportive functional data including animal models. New HGNC name is PJVK. Hearing loss is pre-lingual, therefore include. Treatment: hearing aids/cochlear implant. |
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