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| Mendeliome v0.11748 | USH2A | Zornitza Stark Marked gene: USH2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11748 | USH2A | Zornitza Stark Gene: ush2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11748 | USH2A | Zornitza Stark Phenotypes for gene: USH2A were changed from to Usher syndrome, type 2A, MIM# 276901; Retinitis pigmentosa 39, MIM#613809 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11747 | USH2A | Zornitza Stark Publications for gene: USH2A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11746 | USH2A | Zornitza Stark Mode of inheritance for gene: USH2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11680 | USH2A | Belinda Chong Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11680 | USH2A |
Belinda Chong edited their review of gene: USH2A: Added comment: Well established gene-disease association - Usher syndrome, DEFINITIVE by ClinGen. PMID 20507924: Screened the long isoform of USH2A in 80 patients with nonsyndromic autosomal recessive RP and identified at least 1 deleterious mutation in 19% of cases. The authors stated that their findings supported USH2A as the most common known cause of RP in the United States. https://www.ncbi.nlm.nih.gov/books/NBK1341/, PMID 17296898, ClinVar Reports of cosegregation of Usher Syndrome and Retinitis Pigmentosa; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal |
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| Mendeliome v0.11680 | USH2A | Belinda Chong reviewed gene: USH2A: Rating: ; Mode of pathogenicity: None; Publications: 12427073, 20507924, 17296898, 19881469, 18273898; Phenotypes: Usher syndrome, type 2A, MIM# 276901, Retinitis pigmentosa 39, MIM#613809; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | USH2A |
Zornitza Stark gene: USH2A was added gene: USH2A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: USH2A was set to Unknown |
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