| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mackenzie's Mission_Reproductive Carrier Screening v0.108 | UQCRQ | Crystle Lee reviewed gene: UQCRQ: Rating: RED; Mode of pathogenicity: None; Publications: 18439546; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4 (MIM#615159); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.104 | NDUFA11 | Zornitza Stark reviewed gene: NDUFA11: Rating: RED; Mode of pathogenicity: None; Publications: 18306244, 31074871; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, MIM#618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.91 | NYX | Seb Lunke Phenotypes for gene: NYX were changed from Night blindness, congenital stationary (complete), 1A, X-linked, 310500 (3) to Night blindness, congenital stationary (complete), 1A, X-linked, MIM #310500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.47 | NYX | Sarah Righetti reviewed gene: NYX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Night blindness, congenital stationary (complete), 1A, X-linked, MIM #310500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | UQCRC2 | Sarah Righetti reviewed gene: UQCRC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28275242, 23281071; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | TUBA8 | Sarah Righetti reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | TUBA8 | Sarah Righetti reviewed gene: TUBA8: Rating: ; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM #613180; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | UQCRQ |
Zornitza Stark gene: UQCRQ was added gene: UQCRQ was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRQ were set to Mitochondrial complex III deficiency, nuclear type 4, 615159 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | UQCRC2 |
Zornitza Stark gene: UQCRC2 was added gene: UQCRC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: UQCRC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRC2 were set to Mitochondrial complex III deficiency, nuclear type 5, 615160 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | UBE2T |
Zornitza Stark gene: UBE2T was added gene: UBE2T was added to Mackenzie's Mission_Reproductive Carrier Screening. 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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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | TTC19 |
Zornitza Stark gene: TTC19 was added gene: TTC19 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC19 were set to Mitochondrial complex III deficiency, nuclear type 2, 615157 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | TMEM70 |
Zornitza Stark gene: TMEM70 was added gene: TMEM70 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SDHAF1 |
Zornitza Stark gene: SDHAF1 was added gene: SDHAF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDHAF1 were set to Mitochondrial complex II deficiency, 252011 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | RFXAP |
Zornitza Stark gene: RFXAP was added gene: RFXAP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RFXAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RFXAP were set to Bare lymphocyte syndrome, type II, complementation group D, 209920 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | RFXANK |
Zornitza Stark gene: RFXANK was added gene: RFXANK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RFXANK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RFXANK were set to MHC class II deficiency, complementation group B, 209920 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PLEC |
Zornitza Stark gene: PLEC was added gene: PLEC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLEC were set to Epidermolysis bullosa simplex with pyloric atresia, 612138 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PET100 |
Zornitza Stark gene: PET100 was added gene: PET100 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | OCLN |
Zornitza Stark gene: OCLN was added gene: OCLN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OCLN were set to Band-like calcification with simplified gyration and polymicrogyria, 251290 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NYX |
Zornitza Stark gene: NYX was added gene: NYX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NYX were set to Night blindness, congenital stationary (complete), 1A, X-linked, 310500 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NUBPL |
Zornitza Stark gene: NUBPL was added gene: NUBPL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency, 252010 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NDUFV2 |
Zornitza Stark gene: NDUFV2 was added gene: NDUFV2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, 252010 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NDUFV1 |
Zornitza Stark gene: NDUFV1 was added gene: NDUFV1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NDUFS8 |
Zornitza Stark gene: NDUFS8 was added gene: NDUFS8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS8 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NDUFS6 |
Zornitza Stark gene: NDUFS6 was added gene: NDUFS6 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NDUFS2 |
Zornitza Stark gene: NDUFS2 was added gene: NDUFS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS2 were set to Mitochondrial complex I deficiency, 252010 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NDUFS1 |
Zornitza Stark gene: NDUFS1 was added gene: NDUFS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency, 252010 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NDUFAF6 |
Zornitza Stark gene: NDUFAF6 was added gene: NDUFAF6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF6 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NDUFAF5 |
Zornitza Stark gene: NDUFAF5 was added gene: NDUFAF5 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NDUFA11 |
Zornitza Stark gene: NDUFA11 was added gene: NDUFA11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NDUFA11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA11 were set to Mitochondrial complex I deficiency, 252010 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NDUFA1 |
Zornitza Stark gene: NDUFA1 was added gene: NDUFA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency, 252010 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | MTR |
Zornitza Stark gene: MTR was added gene: MTR was added to Mackenzie's Mission_Reproductive Carrier Screening. 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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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | MPLKIP |
Zornitza Stark gene: MPLKIP was added gene: MPLKIP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive, 234050 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | MPL |
Zornitza Stark gene: MPL was added gene: MPL was added to Mackenzie's Mission_Reproductive Carrier Screening. 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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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | MMAB |
Zornitza Stark gene: MMAB was added gene: MMAB was added to Mackenzie's Mission_Reproductive Carrier Screening. 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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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | LYRM7 |
Zornitza Stark gene: LYRM7 was added gene: LYRM7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LYRM7 were set to Mitochondrial complex III deficiency, nuclear type 8, 615838 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | KRT5 |
Zornitza Stark gene: KRT5 was added gene: KRT5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: KRT5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KRT5 were set to Epidermolysis bullosa simplex, recessive 1, 601001 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | KRT14 |
Zornitza Stark gene: KRT14 was added gene: KRT14 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | GPR179 |
Zornitza Stark gene: GPR179 was added gene: GPR179 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GPR179 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPR179 were set to Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | FOXRED1 |
Zornitza Stark gene: FOXRED1 was added gene: FOXRED1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | FANCL |
Zornitza Stark gene: FANCL was added gene: FANCL was added to Mackenzie's Mission_Reproductive Carrier Screening. 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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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | FANCI |
Zornitza Stark gene: FANCI was added gene: FANCI was added to Mackenzie's Mission_Reproductive Carrier Screening. 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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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | FANCG |
Zornitza Stark gene: FANCG was added gene: FANCG was added to Mackenzie's Mission_Reproductive Carrier Screening. 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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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | FANCF |
Zornitza Stark gene: FANCF was added gene: FANCF was added to Mackenzie's Mission_Reproductive Carrier Screening. 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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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | FANCE |
Zornitza Stark gene: FANCE was added gene: FANCE was added to Mackenzie's Mission_Reproductive Carrier Screening. 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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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | FANCD2 |
Zornitza Stark gene: FANCD2 was added gene: FANCD2 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | FANCC |
Zornitza Stark gene: FANCC was added gene: FANCC was added to Mackenzie's Mission_Reproductive Carrier Screening. 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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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | FANCB |
Zornitza Stark gene: FANCB was added gene: FANCB was added to Mackenzie's Mission_Reproductive Carrier Screening. 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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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | FANCA |
Zornitza Stark gene: FANCA was added gene: FANCA was added to Mackenzie's Mission_Reproductive Carrier Screening. 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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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ERCC4 |
Zornitza Stark gene: ERCC4 was added gene: ERCC4 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CYP11A1 |
Zornitza Stark gene: CYP11A1 was added gene: CYP11A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | COX20 |
Zornitza Stark gene: COX20 was added gene: COX20 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX20 were set to Mitochondrial complex IV deficiency, 220110 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | APOPT1 |
Zornitza Stark gene: APOPT1 was added gene: APOPT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, 220110 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CIITA |
Zornitza Stark gene: CIITA was added gene: CIITA was added to Mackenzie's Mission_Reproductive Carrier Screening. 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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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CFI |
Zornitza Stark gene: CFI was added gene: CFI was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CFI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFI were set to Complement factor I deficiency, 610984 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CFH |
Zornitza Stark gene: CFH was added gene: CFH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CFH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFH were set to Complement factor H deficiency, 609814 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CFD |
Zornitza Stark gene: CFD was added gene: CFD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CFD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFD were set to Complement factor D deficiency, 613912 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CD55 |
Zornitza Stark gene: CD55 was added gene: CD55 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CD55 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CD55 were set to Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ACAD9 |
Zornitza Stark gene: ACAD9 was added gene: ACAD9 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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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