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| Prepair 1000+ v1.3 | TTC37 | Seb Lunke Added phenotypes Trichohepatoenteric syndrome 1, 222470 (3) for gene: TTC37 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | TMTC3 | Seb Lunke Added phenotypes Lissencephaly 8, 617255 (3), Autosomal recessive for gene: TMTC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | SLC39A4 | Seb Lunke Added phenotypes Acrodermatitis enteropathica, 201100 (3) for gene: SLC39A4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | SLC38A8 | Seb Lunke Added phenotypes Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3) for gene: SLC38A8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | SLC37A4 | Seb Lunke Added phenotypes Glycogen storage disease Ib, 232220 (3) for gene: SLC37A4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | SLC35A3 |
Seb Lunke Added phenotypes Arthrogryposis, mental retardation, and seizures (MIM615553) for gene: SLC35A3 Publications for gene SLC35A3 were updated from 24031089; 28777481; 28328131 to 28777481; 28328131; 24031089 |
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| Prepair 1000+ v1.3 | GPC3 | Seb Lunke Added phenotypes Simpson-Golabi-Behmel syndrome, type 1, 312870 (3) for gene: GPC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | G6PC3 | Seb Lunke Added phenotypes Dursun syndrome, 612541 (3) for gene: G6PC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | EXOSC3 | Seb Lunke Added phenotypes Pontocerebellar hypoplasia, type 1B, 614678 (3) for gene: EXOSC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | CCDC39 | Seb Lunke Added phenotypes Ciliary dyskinesia, primary, 14, 613807 (3) for gene: CCDC39 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | ZIC3 |
Zornitza Stark gene: ZIC3 was added gene: ZIC3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZIC3 were set to Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3) |
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| Prepair 1000+ v0.0 | TUSC3 |
Zornitza Stark gene: TUSC3 was added gene: TUSC3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TUSC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUSC3 were set to Mental retardation, autosomal recessive 7, 611093 (3) |
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| Prepair 1000+ v0.0 | TTC37 |
Zornitza Stark gene: TTC37 was added gene: TTC37 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC37 were set to Trichohepatoenteric syndrome 1, 222470 (3) |
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| Prepair 1000+ v0.0 | TMTC3 |
Zornitza Stark gene: TMTC3 was added gene: TMTC3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TMTC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMTC3 were set to Lissencephaly 8, 617255 (3), Autosomal recessive |
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| Prepair 1000+ v0.0 | SLC39A8 |
Zornitza Stark gene: SLC39A8 was added gene: SLC39A8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn, 616721 (3), Autosomal recessive |
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| Prepair 1000+ v0.0 | SLC39A4 |
Zornitza Stark gene: SLC39A4 was added gene: SLC39A4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica, 201100 (3) |
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| Prepair 1000+ v0.0 | SLC39A14 |
Zornitza Stark gene: SLC39A14 was added gene: SLC39A14 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2, 617013 (3), Autosomal recessive |
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| Prepair 1000+ v0.0 | SLC38A8 |
Zornitza Stark gene: SLC38A8 was added gene: SLC38A8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC38A8 were set to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3) |
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| Prepair 1000+ v0.0 | SLC37A4 |
Zornitza Stark gene: SLC37A4 was added gene: SLC37A4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC37A4 were set to Glycogen storage disease Ib, 232220 (3) |
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| Prepair 1000+ v0.0 | SLC35D1 |
Zornitza Stark gene: SLC35D1 was added gene: SLC35D1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC35D1 were set to Schneckenbecken dysplasia, 269250 (3) |
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| Prepair 1000+ v0.0 | SLC35A3 |
Zornitza Stark gene: SLC35A3 was added gene: SLC35A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC35A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35A3 were set to 24031089; 28777481; 28328131 Phenotypes for gene: SLC35A3 were set to Arthrogryposis, mental retardation, and seizures (MIM615553) |
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| Prepair 1000+ v0.0 | SLC33A1 |
Zornitza Stark gene: SLC33A1 was added gene: SLC33A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC33A1 were set to Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3) |
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| Prepair 1000+ v0.0 | SLC30A10 |
Zornitza Stark gene: SLC30A10 was added gene: SLC30A10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC30A10 were set to Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 (3) |
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| Prepair 1000+ v0.0 | LAMC3 |
Zornitza Stark gene: LAMC3 was added gene: LAMC3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LAMC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMC3 were set to Cortical malformations, occipital, 614115 (3) |
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| Prepair 1000+ v0.0 | GPC3 |
Zornitza Stark gene: GPC3 was added gene: GPC3 was added to Reproductive Carrier Screen_VCGS. 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 1000+ v0.0 | G6PC3 |
Zornitza Stark gene: G6PC3 was added gene: G6PC3 was added to Reproductive Carrier Screen_VCGS. 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 1000+ v0.0 | EXOSC3 |
Zornitza Stark gene: EXOSC3 was added gene: EXOSC3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1B, 614678 (3) |
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| Prepair 1000+ v0.0 | CCDC39 |
Zornitza Stark gene: CCDC39 was added gene: CCDC39 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC39 were set to Ciliary dyskinesia, primary, 14, 613807 (3) |
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| Prepair 1000+ v0.0 | C3 |
Zornitza Stark gene: C3 was added gene: C3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: C3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C3 were set to C3 deficiency, 613779 (3) |
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