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Mackenzie's Mission_Reproductive Carrier Screening v0.0 | FHL1 |
Zornitza Stark gene: FHL1 was added gene: FHL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3) |
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Mackenzie's Mission_Reproductive Carrier Screening v0.0 | FH |
Zornitza Stark gene: FH was added gene: FH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FH were set to Fumarase deficiency, 606812 (3) |
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Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CFH |
Zornitza Stark gene: CFH was added gene: CFH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CFH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFH were set to Complement factor H deficiency, 609814 (3) |