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| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | AFF2 |
Sarah Righetti gene: AFF2 was added gene: AFF2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: AFF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AFF2 were set to Mental retardation, X-linked, FRAXE type, #309548 Added comment: Mechanism of disease is triplet repeat expansion. FRAXE less severe and much rarer than FRAXA. Excluded from MM screening panel on technical grounds. Sources: Expert Review |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | XPA |
Zornitza Stark gene: XPA was added gene: XPA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XPA were set to Xeroderma pigmentosum, group A, 278700 (3) |
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