| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Prepair 1000+ v1.1678 | NHS | Zornitza Stark Marked gene: NHS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1678 | NHS | Zornitza Stark Gene: nhs has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1678 | NHS | Zornitza Stark Phenotypes for gene: NHS were changed from Cataract 40, X-linked, 302200 (3) to Nance-Horan syndrome MIM#302350 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1677 | NHS | Zornitza Stark Publications for gene: NHS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1676 | NHS | Zornitza Stark reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nance-Horan syndrome MIM#302350; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1566 | NHS | Andrew Coventry reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31755796, 25266737, 14564667, 18949062; Phenotypes: Nance-Horan syndrome MIM#302350, Cataract 40, X-linked MIM#302200; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | NHS |
Zornitza Stark gene: NHS was added gene: NHS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NHS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: NHS were set to Cataract 40, X-linked, 302200 (3) |
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