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| Mackenzie's Mission_Reproductive Carrier Screening v0.91 | NYX | Seb Lunke Marked gene: NYX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.91 | NYX | Seb Lunke Gene: nyx has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.91 | NYX | Seb Lunke Phenotypes for gene: NYX were changed from Night blindness, congenital stationary (complete), 1A, X-linked, 310500 (3) to Night blindness, congenital stationary (complete), 1A, X-linked, MIM #310500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.47 | NYX | Sarah Righetti Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.47 | NYX |
Sarah Righetti edited their review of gene: NYX: Added comment: Clinical summary: Function of rods disrupted - difficulty seeing in low light. Other vision problems including reduced acuity (20/30 to 20/200) which is considered mild-moderate visual impairment or reduced-low vision. 20/40 is Australian legal driving limit. Myopia - can range from low to high. May have nystagmus/strabismus. Color vision not affected. Non-progressive, present at birth. Severe end of phenoypic spectrum meets MM criteria for inclusion - GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.47 | NYX | Sarah Righetti reviewed gene: NYX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Night blindness, congenital stationary (complete), 1A, X-linked, MIM #310500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NYX |
Zornitza Stark gene: NYX was added gene: NYX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NYX were set to Night blindness, congenital stationary (complete), 1A, X-linked, 310500 (3) |
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