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| Prepair 500+ v0.0 | XPC |
Seb Lunke gene: XPC was added gene: XPC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XPC were set to Xeroderma pigmentosum, group C, 278720 (3) |
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| Prepair 500+ v0.0 | PCNT |
Seb Lunke gene: PCNT was added gene: PCNT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3) |
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| Prepair 500+ v0.0 | PCDH19 |
Seb Lunke gene: PCDH19 was added gene: PCDH19 was added to Prepair 500+. Sources: Literature,Expert Review Green Mode of inheritance for gene: PCDH19 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PCDH19 were set to 18469813; 30287595 Phenotypes for gene: PCDH19 were set to Developmental and epileptic encephalopathy 9 (MIM#300088) |
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| Prepair 500+ v0.0 | PCDH15 |
Seb Lunke gene: PCDH15 was added gene: PCDH15 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PCDH15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCDH15 were set to Usher syndrome, type 1F, 602083 (3) |
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| Prepair 500+ v0.0 | PCCB |
Seb Lunke gene: PCCB was added gene: PCCB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCCB were set to Propionicacidemia, 606054 (3) |
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| Prepair 500+ v0.0 | PCCA |
Seb Lunke gene: PCCA was added gene: PCCA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCCA were set to Propionicacidemia, 606054 (3) |
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| Prepair 500+ v0.0 | PC |
Seb Lunke gene: PC was added gene: PC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency, 266150 (3) |
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| Prepair 500+ v0.0 | NPC2 |
Seb Lunke gene: NPC2 was added gene: NPC2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPC2 were set to 29625568; 17470133 Phenotypes for gene: NPC2 were set to Niemann-pick disease, type C2, MIM#607625 |
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| Prepair 500+ v0.0 | NPC1 |
Seb Lunke gene: NPC1 was added gene: NPC1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPC1 were set to 11333381; 26910362 Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1, MIM#257220 |
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| Prepair 500+ v0.0 | GPC3 |
Seb Lunke gene: GPC3 was added gene: GPC3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome, type 1, 312870 (3) |
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| Prepair 500+ v0.0 | G6PC3 |
Seb Lunke gene: G6PC3 was added gene: G6PC3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: G6PC3 were set to Dursun syndrome, 612541 (3) |
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| Prepair 500+ v0.0 | G6PC |
Seb Lunke gene: G6PC was added gene: G6PC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: G6PC were set to Glycogen storage disease Ia, 232200 (3) |
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