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| Mackenzie's Mission_Reproductive Carrier Screening v0.7 | HPD | Teresa Zhao reviewed gene: HPD: Rating: GREEN; Mode of pathogenicity: None; Publications: 10942115, 17560158; Phenotypes: Hawkinsinuria (MIM#140350), AD, Tyrosinemia type III (MIM#276710), AR; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | TYRP1 |
Zornitza Stark gene: TYRP1 was added gene: TYRP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYRP1 were set to Albinism, oculocutaneous, type III, 203290 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | TYR |
Zornitza Stark gene: TYR was added gene: TYR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYR were set to Albinism, oculocutaneous, type IA, 203100 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | HPD |
Zornitza Stark gene: HPD was added gene: HPD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HPD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPD were set to Tyrosinemia, type III, 276710 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | FAH |
Zornitza Stark gene: FAH was added gene: FAH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAH were set to Tyrosinemia, type I, 276700 (3) |
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