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| Mackenzie's Mission_Reproductive Carrier Screening v0.102 | GK | Sarah Righetti reviewed gene: GK: Rating: RED; Mode of pathogenicity: None; Publications: 8651297, 9719371; Phenotypes: Glycerol kinase deficiency, MIM# 307030; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PGK1 |
Zornitza Stark gene: PGK1 was added gene: PGK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency, 300653 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | GK |
Zornitza Stark gene: GK was added gene: GK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GK were set to Glycerol kinase deficiency, 307030 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | DGKE |
Zornitza Stark gene: DGKE was added gene: DGKE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DGKE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DGKE were set to Nephrotic syndrome, type 7, 615008 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | AGK |
Zornitza Stark gene: AGK was added gene: AGK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGK were set to Sengers syndrome, 212350 (3) |
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