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| Deafness_Isolated v1.11 | P2RX2 | Zornitza Stark Publications for gene: P2RX2 were set to 23345450; 24211385 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.10 | P2RX2 | Zornitza Stark edited their review of gene: P2RX2: Added comment: Additional evidence supporting green rating: PMID: 33791800 - Chen et al 2021 - generated and a knock-in mouse model based on the human P2RX2 p.V60L mutation (previously reported in 2 unrelated Chinese families with hearing loss) . Knock-in mice showed early-onset of hearing loss at 21-day-old, with progressively hearing loss and deafness at around 6-month-old. This is consistent with the human clinical presentation.; Changed publications: 23345450, 24211385, 33791800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v0.10 | P2RX2 | Zornitza Stark Marked gene: P2RX2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v0.10 | P2RX2 | Zornitza Stark Gene: p2rx2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v0.10 | P2RX2 | Zornitza Stark Publications for gene: P2RX2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v0.9 | P2RX2 | Zornitza Stark reviewed gene: P2RX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23345450, 24211385; Phenotypes: Deafness, autosomal dominant 41, MIM# 608224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v0.9 | P2RX2 | Zornitza Stark Classified gene: P2RX2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v0.9 | P2RX2 | Zornitza Stark Gene: p2rx2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v0.3 | P2RX2 |
Lilian Downie gene: P2RX2 was added gene: P2RX2 was added to Deafness_Isolated. Sources: Expert list Mode of inheritance for gene: P2RX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: P2RX2 were set to Deafness, autosomal dominant 41, MIM#608224 Review for gene: P2RX2 was set to GREEN Added comment: Sources: Expert list |
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