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| Mackenzie's Mission_Reproductive Carrier Screening v0.47 | TBX22 |
Sarah Righetti gene: TBX22 was added gene: TBX22 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: TBX22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TBX22 were set to Cleft palate with ankyloglossia, MIM #303400 Review for gene: TBX22 was set to RED Added comment: Treatable condition. RED on phenotypic grounds. Sources: Expert Review |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | KY |
Zornitza Stark gene: KY was added gene: KY was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: KY was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KY were set to Myopathy, myofibrillar, 7, 617114 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | HPS6 |
Zornitza Stark gene: HPS6 was added gene: HPS6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6, 614075 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | HPS5 |
Zornitza Stark gene: HPS5 was added gene: HPS5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5, 614074 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | HPS4 |
Zornitza Stark gene: HPS4 was added gene: HPS4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4, 614073 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | HPS3 |
Zornitza Stark gene: HPS3 was added gene: HPS3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HPS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPS3 were set to Hermansky-Pudlak syndrome 3, 614072 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | HPS1 |
Zornitza Stark gene: HPS1 was added gene: HPS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1, 203300 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | FKBP14 |
Zornitza Stark gene: FKBP14 was added gene: FKBP14 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKBP14 were set to Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557 (3) |
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