| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Prepair 1000+ v0.193 | NR2E3 | Zornitza Stark Tag for review was removed from gene: NR2E3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.157 | NR2E3 | Zornitza Stark Marked gene: NR2E3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.157 | NR2E3 | Zornitza Stark Gene: nr2e3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.157 | NR2E3 | Zornitza Stark Classified gene: NR2E3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.157 | NR2E3 | Zornitza Stark Gene: nr2e3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.156 | NR2E3 | Zornitza Stark reviewed gene: NR2E3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.92 | NR2E3 | Zornitza Stark Tag for review tag was added to gene: NR2E3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.85 | NR2E3 |
Crystle Lee gene: NR2E3 was added gene: NR2E3 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: NR2E3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NR2E3 were set to 32679203; 33138239; 19139342; 26910043 Phenotypes for gene: NR2E3 were set to Enhanced S-cone syndrome (MIM#268100); Retinitis pigmentosa 37 (MIM#611131) Review for gene: NR2E3 was set to AMBER Added comment: Both biallelic and monoallelic variants associated with a range of phenotypes including retinitis pigments (NR2E3-related retinal dystrophy). Highly variable phenotype. PMID: 26910043: Single variant associated with a wide range of phenotypic characteristics Sources: Literature |
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