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| Prepair 1000+ v1.9 | CRB1 | Lauren Rogers reviewed gene: CRB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11231775, 11389483, 16543197; Phenotypes: Leber congenital amaurosis 8 MIM#613835; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | RPE65 | Seb Lunke Added phenotypes Leber congenital amaurosis 2, 204100 (3) for gene: RPE65 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | RDH12 | Seb Lunke Added phenotypes Leber congenital amaurosis 13, 612712 (3) for gene: RDH12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | LRAT | Seb Lunke Added phenotypes Leber congenital amaurosis 14, 613341 (3) for gene: LRAT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | LCA5 | Seb Lunke Added phenotypes Leber congenital amaurosis 5, 604537 (3) for gene: LCA5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | GUCY2D | Seb Lunke Added phenotypes Leber congenital amaurosis 1, 204000 (3) for gene: GUCY2D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | CRB1 | Seb Lunke Added phenotypes Leber congenital amaurosis 8, 613835 (3) for gene: CRB1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | UROS |
Zornitza Stark gene: UROS was added gene: UROS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UROS were set to Porphyria, congenital erythropoietic, 263700 (3) |
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| Prepair 1000+ v0.0 | SPATA7 |
Zornitza Stark gene: SPATA7 was added gene: SPATA7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SPATA7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPATA7 were set to Leber congenital amaurosis 3, 604232 (3) |
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| Prepair 1000+ v0.0 | RPE65 |
Zornitza Stark gene: RPE65 was added gene: RPE65 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RPE65 were set to Leber congenital amaurosis 2, 204100 (3) |
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| Prepair 1000+ v0.0 | RDH12 |
Zornitza Stark gene: RDH12 was added gene: RDH12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RDH12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RDH12 were set to Leber congenital amaurosis 13, 612712 (3) |
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| Prepair 1000+ v0.0 | RD3 |
Zornitza Stark gene: RD3 was added gene: RD3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RD3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RD3 were set to Leber congenital amaurosis 12, 610612 (3) |
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| Prepair 1000+ v0.0 | NMNAT1 |
Zornitza Stark gene: NMNAT1 was added gene: NMNAT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NMNAT1 were set to Leber congenital amaurosis 9, 608553 (3) |
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| Prepair 1000+ v0.0 | LRAT |
Zornitza Stark gene: LRAT was added gene: LRAT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LRAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRAT were set to Leber congenital amaurosis 14, 613341 (3) |
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| Prepair 1000+ v0.0 | LCA5 |
Zornitza Stark gene: LCA5 was added gene: LCA5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LCA5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LCA5 were set to Leber congenital amaurosis 5, 604537 (3) |
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| Prepair 1000+ v0.0 | GUCY2D |
Zornitza Stark gene: GUCY2D was added gene: GUCY2D was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GUCY2D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GUCY2D were set to Leber congenital amaurosis 1, 204000 (3) |
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| Prepair 1000+ v0.0 | CRB1 |
Zornitza Stark gene: CRB1 was added gene: CRB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CRB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CRB1 were set to Leber congenital amaurosis 8, 613835 (3) |
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