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| Prepair 1000+ v1.3 | FHL1 | Seb Lunke Added phenotypes Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3) for gene: FHL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | FH | Seb Lunke Added phenotypes Fumarase deficiency, 606812 (3) for gene: FH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | FHL1 |
Zornitza Stark gene: FHL1 was added gene: FHL1 was added to Reproductive Carrier Screen_VCGS. 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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| Prepair 1000+ v0.0 | FH |
Zornitza Stark gene: FH was added gene: FH was added to Reproductive Carrier Screen_VCGS. 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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| Prepair 1000+ v0.0 | CFH |
Zornitza Stark gene: CFH was added gene: CFH was added to Reproductive Carrier Screen_VCGS. 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) |
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