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| Prepair 1000+ v1.3 | GLA | Seb Lunke Added phenotypes Fabry disease, MIM#301500 for gene: GLA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | CYP1B1 | Seb Lunke Added phenotypes Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3) for gene: CYP1B1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.64 | GLA | Zornitza Stark Marked gene: GLA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.64 | GLA | Zornitza Stark Gene: gla has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.64 | GLA | Zornitza Stark Phenotypes for gene: GLA were changed from Fabry disease, 301500 (3) to Fabry disease, MIM#301500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.63 | GLA | Zornitza Stark Publications for gene: GLA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.61 | GLA | Crystle Lee reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: 29649853, 20301469; Phenotypes: Fabry disease (MIM#301500); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | GLA |
Zornitza Stark gene: GLA was added gene: GLA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GLA were set to Fabry disease, 301500 (3) |
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| Prepair 1000+ v0.0 | CYP1B1 |
Zornitza Stark gene: CYP1B1 was added gene: CYP1B1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CYP1B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP1B1 were set to Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3) |
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