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| Prepair 1000+ v0.61 | CYP11B1 |
Crystle Lee gene: CYP11B1 was added gene: CYP11B1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: CYP11B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP11B1 were set to 8768848 Phenotypes for gene: CYP11B1 were set to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency (MIM#202010) Review for gene: CYP11B1 was set to AMBER Added comment: CAH due to 11-beta-hydroxylase deficiency is an autosomal recessive disorder of corticosteroid biosynthesis resulting in androgen excess, virilization, and hypertension. Well established gene-disease association. Sources: Literature |
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| Prepair 1000+ v0.0 | ICOS |
Zornitza Stark gene: ICOS was added gene: ICOS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ICOS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ICOS were set to Immunodeficiency, common variable, 1, 607594 (3) |
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