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| Prepair 500+ v0.0 | UBE2T |
Seb Lunke gene: UBE2T was added gene: UBE2T was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UBE2T were set to Fanconi anemia, complementation group T, 616435 (3) |
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| Prepair 500+ v0.0 | PET100 |
Seb Lunke gene: PET100 was added gene: PET100 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PET100 were set to Mitochondrial complex IV deficiency, 220110 (3) |
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| Prepair 500+ v0.0 | NDUFV1 |
Seb Lunke gene: NDUFV1 was added gene: NDUFV1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFV1 were set to Mitochondrial complex I deficiency, 252010 (3) |
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| Prepair 500+ v0.0 | NDUFS6 |
Seb Lunke gene: NDUFS6 was added gene: NDUFS6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NDUFS6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS6 were set to Mitochondrial complex I deficiency, 252010 (3) |
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| Prepair 500+ v0.0 | NDUFAF5 |
Seb Lunke gene: NDUFAF5 was added gene: NDUFAF5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex 1 deficiency, 252010 (3) |
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| Prepair 500+ v0.0 | MTR |
Seb Lunke gene: MTR was added gene: MTR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3) |
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| Prepair 500+ v0.0 | MPL |
Seb Lunke gene: MPL was added gene: MPL was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPL were set to Thrombocytopenia, congenital amegakaryocytic, 604498 (3) |
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| Prepair 500+ v0.0 | MMAB |
Seb Lunke gene: MMAB was added gene: MMAB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3) |
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| Prepair 500+ v0.0 | KRT14 |
Seb Lunke gene: KRT14 was added gene: KRT14 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: KRT14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex, recessive 1, 601001 (3) |
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| Prepair 500+ v0.0 | FOXRED1 |
Seb Lunke gene: FOXRED1 was added gene: FOXRED1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FOXRED1 were set to Mitochondrial complex I deficiency, 252010 (3) |
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| Prepair 500+ v0.0 | FANCL |
Seb Lunke gene: FANCL was added gene: FANCL was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCL were set to Fanconi anemia, complementation group L, 614083 (3) |
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| Prepair 500+ v0.0 | FANCI |
Seb Lunke gene: FANCI was added gene: FANCI was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCI were set to Fanconi anemia, complementation group I, 609053 (3) |
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| Prepair 500+ v0.0 | FANCG |
Seb Lunke gene: FANCG was added gene: FANCG was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCG were set to Fanconi anemia, complementation group G, 614082 (3) |
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| Prepair 500+ v0.0 | FANCF |
Seb Lunke gene: FANCF was added gene: FANCF was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCF were set to Fanconi anemia, complementation group F, 603467 (3) |
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| Prepair 500+ v0.0 | FANCE |
Seb Lunke gene: FANCE was added gene: FANCE was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCE were set to Fanconi anemia, complementation group E, 600901 (3) |
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| Prepair 500+ v0.0 | FANCD2 |
Seb Lunke gene: FANCD2 was added gene: FANCD2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCD2 were set to Fanconi anemia, complementation group D2, 227646 (3) |
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| Prepair 500+ v0.0 | FANCC |
Seb Lunke gene: FANCC was added gene: FANCC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCC were set to Fanconi anemia, complementation group C, 227645 (3) |
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| Prepair 500+ v0.0 | FANCB |
Seb Lunke gene: FANCB was added gene: FANCB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FANCB were set to Fanconi anemia, complementation group B, 300514 (3) |
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| Prepair 500+ v0.0 | FANCA |
Seb Lunke gene: FANCA was added gene: FANCA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCA were set to Fanconi anemia, complementation group A, 227650 (3) |
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| Prepair 500+ v0.0 | ERCC4 |
Seb Lunke gene: ERCC4 was added gene: ERCC4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, 615272 (3) |
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| Prepair 500+ v0.0 | CYP11A1 |
Seb Lunke gene: CYP11A1 was added gene: CYP11A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3) |
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| Prepair 500+ v0.0 | CIITA |
Seb Lunke gene: CIITA was added gene: CIITA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CIITA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CIITA were set to Bare lymphocyte syndrome, type II, complementation group A, 209920 (3) |
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| Prepair 500+ v0.0 | ACAD9 |
Seb Lunke gene: ACAD9 was added gene: ACAD9 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3) |
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