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| Prepair 1000+ v1.3 | PHGDH | Seb Lunke Added phenotypes Neu-Laxova syndrome1, 256520 (3) for gene: PHGDH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | L2HGDH | Seb Lunke Added phenotypes L-2-hydroxyglutaric aciduria, 236792 (3) for gene: L2HGDH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | D2HGDH | Seb Lunke Added phenotypes D-2-hydroxyglutaric aciduria, 600721 (3) for gene: D2HGDH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.88 | HGD | Zornitza Stark Marked gene: HGD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.88 | HGD | Zornitza Stark Gene: hgd has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.88 | HGD | Zornitza Stark Classified gene: HGD as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.88 | HGD | Zornitza Stark Gene: hgd has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.61 | HGD |
Crystle Lee gene: HGD was added gene: HGD was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HGD were set to 25804398 Phenotypes for gene: HGD were set to Alkaptonuria (MIM#203500) Review for gene: HGD was set to RED Added comment: Well established gene disease association. Symptoms occur in adulthood. Ochronosis generally occurs after age 30 years; arthritis often begins in the third decade. (Gene Reviews) Sources: Literature |
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| Prepair 1000+ v0.0 | PHGDH |
Zornitza Stark gene: PHGDH was added gene: PHGDH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHGDH were set to Neu-Laxova syndrome1, 256520 (3) |
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| Prepair 1000+ v0.0 | L2HGDH |
Zornitza Stark gene: L2HGDH was added gene: L2HGDH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: L2HGDH were set to L-2-hydroxyglutaric aciduria, 236792 (3) |
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| Prepair 1000+ v0.0 | D2HGDH |
Zornitza Stark gene: D2HGDH was added gene: D2HGDH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria, 600721 (3) |
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