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| Monogenic hearing loss v2.4 | HARS2 |
Eleanor Williams edited their review of gene: HARS2: Added comment: 6 new cases, so now 8 independent cases, which is sufficient to rate green. New cases: PMID: 31827252 - Demain et al 2019 - 3 unrelated families each with compound heterozygous variants in HARS2 in affected members. All 3 families share the c.1439G>A p.(Arg480His) (NM_012208.3) variant along with other likely pathogenic variants. PMID: 31449985 - Karstensen et al 2019 - three novel families, compound heterozygous for missense variants in HARS2 and early onset, rapidly progressive hearing impairment in the five affected individuals. Premature ovarian insufficiency was also seen in some individuals.; Changed rating: GREEN |
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| Monogenic hearing loss v2.2 | KARS | Louise Daugherty Tag new-gene-name tag was added to gene: KARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.2 | KARS | Louise Daugherty commented on gene: KARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v1.43 | KARS | Ellen McDonagh commented on gene: KARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss | KARS | Lampros Mavrogiannis reviewed KARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||