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Severe Paediatric Disorders v0.17 L2HGDH Louise Daugherty Mode of inheritance for gene L2HGDH was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HGD Louise Daugherty Mode of inheritance for gene HGD was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 D2HGDH Louise Daugherty Mode of inheritance for gene D2HGDH was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ARHGDIA Louise Daugherty Mode of inheritance for gene ARHGDIA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 PHGDH Louise Daugherty reviewed gene: PHGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 L2HGDH Louise Daugherty reviewed gene: L2HGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HGD Louise Daugherty reviewed gene: HGD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 D2HGDH Louise Daugherty reviewed gene: D2HGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ARHGDIA Louise Daugherty reviewed gene: ARHGDIA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 PHGDH Louise Daugherty Publications for gene PHGDH were updated from to 30847515
Severe Paediatric Disorders v0.11 L2HGDH Louise Daugherty Publications for gene L2HGDH were updated from to 30847515
Severe Paediatric Disorders v0.11 HGD Louise Daugherty Publications for gene HGD were updated from to 30847515
Severe Paediatric Disorders v0.11 D2HGDH Louise Daugherty Publications for gene D2HGDH were updated from to 30847515
Severe Paediatric Disorders v0.11 ARHGDIA Louise Daugherty Publications for gene ARHGDIA were updated from to 30847515
Severe Paediatric Disorders v0.11 PHGDH Louise Daugherty Mode of inheritance for gene PHGDH was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.10 PHGDH Louise Daugherty Added phenotypes Phosphoglycerate dehydrogenase deficiency, 601815; Neu-Laxova syndrome 1, 256520 for gene: PHGDH
Severe Paediatric Disorders v0.10 L2HGDH Louise Daugherty Added phenotypes L-2-hydroxyglutaric aciduria, 236792 for gene: L2HGDH
Severe Paediatric Disorders v0.10 HGD Louise Daugherty Added phenotypes Alkaptonuria, 203500 for gene: HGD
Severe Paediatric Disorders v0.10 D2HGDH Louise Daugherty Added phenotypes D-2-hydroxyglutaric aciduria, 600721 for gene: D2HGDH
Severe Paediatric Disorders v0.10 ARHGDIA Louise Daugherty Added phenotypes Nephrotic syndrome, type 8, 615244 for gene: ARHGDIA
Severe Paediatric Disorders v0.9 PHGDH Louise Daugherty Added phenotypes Phosphoglycerate dehydrogenase deficiency, 601815; Neu-Laxova syndrome 1, 256520 for gene: PHGDH
Severe Paediatric Disorders v0.9 L2HGDH Louise Daugherty Added phenotypes L-2-hydroxyglutaric aciduria, 236792 for gene: L2HGDH
Severe Paediatric Disorders v0.9 HGD Louise Daugherty Added phenotypes Alkaptonuria, 203500 for gene: HGD
Severe Paediatric Disorders v0.9 D2HGDH Louise Daugherty Added phenotypes D-2-hydroxyglutaric aciduria, 600721 for gene: D2HGDH
Severe Paediatric Disorders v0.9 ARHGDIA Louise Daugherty Added phenotypes Nephrotic syndrome, type 8, 615244 for gene: ARHGDIA
Severe Paediatric Disorders v0.9 PHGDH Louise Daugherty Added phenotypes Phosphoglycerate dehydrogenase deficiency, 601815; Neu-Laxova syndrome 1, 256520 for gene: PHGDH
Severe Paediatric Disorders v0.9 L2HGDH Louise Daugherty Added phenotypes L-2-hydroxyglutaric aciduria, 236792 for gene: L2HGDH
Severe Paediatric Disorders v0.9 HGD Louise Daugherty Added phenotypes Alkaptonuria, 203500 for gene: HGD
Severe Paediatric Disorders v0.9 D2HGDH Louise Daugherty Added phenotypes D-2-hydroxyglutaric aciduria, 600721 for gene: D2HGDH
Severe Paediatric Disorders v0.9 ARHGDIA Louise Daugherty Added phenotypes Nephrotic syndrome, type 8, 615244 for gene: ARHGDIA
Severe Paediatric Disorders v0.8 PHGDH Louise Daugherty Added phenotypes Neu-Laxova syndrome 1, 256520; Phosphoglycerate dehydrogenase deficiency, 601815 for gene: PHGDH
Severe Paediatric Disorders v0.8 L2HGDH Louise Daugherty Added phenotypes L-2-hydroxyglutaric aciduria, 236792 for gene: L2HGDH
Severe Paediatric Disorders v0.8 HGD Louise Daugherty Added phenotypes Alkaptonuria, 203500 for gene: HGD
Severe Paediatric Disorders v0.8 D2HGDH Louise Daugherty Added phenotypes D-2-hydroxyglutaric aciduria, 600721 for gene: D2HGDH
Severe Paediatric Disorders v0.8 ARHGDIA Louise Daugherty Added phenotypes Nephrotic syndrome, type 8, 615244 for gene: ARHGDIA
Severe Paediatric Disorders v0.7 PHGDH Louise Daugherty Source Next Generation Children Project was added to PHGDH.
Severe Paediatric Disorders v0.7 L2HGDH Louise Daugherty Source Next Generation Children Project was added to L2HGDH.
Severe Paediatric Disorders v0.7 HGD Louise Daugherty Source Next Generation Children Project was added to HGD.
Severe Paediatric Disorders v0.7 D2HGDH Louise Daugherty Source Next Generation Children Project was added to D2HGDH.
Severe Paediatric Disorders v0.7 ARHGDIA Louise Daugherty Source Next Generation Children Project was added to ARHGDIA.
Severe Paediatric Disorders v0.5 PHGDH Louise Daugherty Source Expert Review Green was added to PHGDH.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 L2HGDH Louise Daugherty Source Expert Review Green was added to L2HGDH.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 HGD Louise Daugherty Source Expert Review Green was added to HGD.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 D2HGDH Louise Daugherty Source Expert Review Green was added to D2HGDH.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ARHGDIA Louise Daugherty Source Expert Review Green was added to ARHGDIA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 PHGDH Louise Daugherty gene: PHGDH was added
gene: PHGDH was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: PHGDH was set to
Severe Paediatric Disorders v0.4 L2HGDH Louise Daugherty gene: L2HGDH was added
gene: L2HGDH was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: L2HGDH was set to
Severe Paediatric Disorders v0.4 HGD Louise Daugherty gene: HGD was added
gene: HGD was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: HGD was set to
Severe Paediatric Disorders v0.4 D2HGDH Louise Daugherty gene: D2HGDH was added
gene: D2HGDH was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: D2HGDH was set to
Severe Paediatric Disorders v0.4 ARHGDIA Louise Daugherty gene: ARHGDIA was added
gene: ARHGDIA was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ARHGDIA was set to