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Prepair 1000+ v1.1027 PHGDH Zornitza Stark Marked gene: PHGDH as ready
Prepair 1000+ v1.1027 PHGDH Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence).
Prepair 1000+ v1.1027 PHGDH Zornitza Stark Phenotypes for gene: PHGDH were changed from Neu-Laxova syndrome1, 256520 (3) to Neu-Laxova syndrome 1 MIM#256520; Phosphoglycerate dehydrogenase deficiency MIM#601815
Prepair 1000+ v1.1026 PHGDH Zornitza Stark Publications for gene: PHGDH were set to
Prepair 1000+ v1.992 PHGDH Shakira Heerah reviewed gene: PHGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 39638571, 37964427, 24836451, 25152457, 11055895, 19235232; Phenotypes: Neu-Laxova syndrome 1 MIM#256520, Phosphoglycerate dehydrogenase deficiency MIM#601815; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.829 D2HGDH Zornitza Stark Marked gene: D2HGDH as ready
Prepair 1000+ v1.829 D2HGDH Zornitza Stark Gene: d2hgdh has been classified as Green List (High Evidence).
Prepair 1000+ v1.829 D2HGDH Zornitza Stark Phenotypes for gene: D2HGDH were changed from D-2-hydroxyglutaric aciduria, 600721 (3) to D-2-hydroxyglutaric aciduria, MIM#600721
Prepair 1000+ v1.828 D2HGDH Zornitza Stark Publications for gene: D2HGDH were set to
Prepair 1000+ v1.761 D2HGDH Karina Sandoval reviewed gene: D2HGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 15609246, 16081310, 31349060, 20020533, 38825343; Phenotypes: D-2-hydroxyglutaric aciduria, MIM#600721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.679 L2HGDH Zornitza Stark Marked gene: L2HGDH as ready
Prepair 1000+ v1.679 L2HGDH Zornitza Stark Gene: l2hgdh has been classified as Green List (High Evidence).
Prepair 1000+ v1.679 L2HGDH Zornitza Stark Phenotypes for gene: L2HGDH were changed from L-2-hydroxyglutaric aciduria, 236792 (3) to L-2-hydroxyglutaric aciduria, MIM#236792
Prepair 1000+ v1.678 L2HGDH Zornitza Stark Publications for gene: L2HGDH were set to
Prepair 1000+ v1.633 L2HGDH Crystle Lee edited their review of gene: L2HGDH: Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 L2HGDH Crystle Lee reviewed gene: L2HGDH: Rating: ; Mode of pathogenicity: None; Publications: 39262645, 10399870; Phenotypes: L-2-hydroxyglutaric aciduria, MIM#236792; Mode of inheritance: None
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
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)
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)
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)