Activity
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16 actions
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| Likely inborn error of metabolism v2.89 | L2HGDH | Eleanor Williams Source: Expert Review Red was removed from gene: L2HGDH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v2.77 | D2HGDH | Eleanor Williams Source: Expert Review Red was removed from gene: D2HGDH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.227 | PHGDH | Sarah Leigh Publications for gene: PHGDH were set to 27604308; 24816252 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.226 | PHGDH | Sarah Leigh Classified gene: PHGDH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.226 | PHGDH | Sarah Leigh Gene: phgdh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.225 | PHGDH | Sarah Leigh Phenotypes for gene: PHGDH were changed from Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815 to Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.225 | PHGDH | Sarah Leigh Phenotypes for gene: PHGDH were changed from Phosphoglycerate dehydrogenase deficiency (Disorders of serine, glycine or glycerate metabolism); Unexplained skeletal dysplasia; Intellectual disability to Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.47 | PHGDH |
Ivone Leong Source NHS GMS was added to PHGDH. Source London North GLH was added to PHGDH. |
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| Likely inborn error of metabolism v1.47 | L2HGDH |
Ivone Leong Source NHS GMS was added to L2HGDH. Source London North GLH was added to L2HGDH. |
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| Likely inborn error of metabolism v1.47 | HGD |
Ivone Leong Source NHS GMS was added to HGD. Source London North GLH was added to HGD. |
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| Likely inborn error of metabolism v1.47 | D2HGDH |
Ivone Leong Source NHS GMS was added to D2HGDH. Source London North GLH was added to D2HGDH. |
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| Likely inborn error of metabolism v1.14 | L2HGDH | Louise Daugherty Phenotypes for gene: L2HGDH were changed from to L-2-hydroxyglutaric aciduria, 236792 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | PHGDH |
Ellen McDonagh gene: PHGDH was added gene: PHGDH was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHGDH were set to 27604308; 24816252 Phenotypes for gene: PHGDH were set to Phosphoglycerate dehydrogenase deficiency (Disorders of serine, glycine or glycerate metabolism); Unexplained skeletal dysplasia; Intellectual disability |
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| Likely inborn error of metabolism v0.4 | L2HGDH |
Ellen McDonagh gene: L2HGDH was added gene: L2HGDH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: L2HGDH were set to 27604308 |
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| Likely inborn error of metabolism v0.4 | HGD |
Ellen McDonagh gene: HGD was added gene: HGD was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HGD were set to 27604308 Phenotypes for gene: HGD were set to Alkaptonuria |
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| Likely inborn error of metabolism v0.4 | D2HGDH |
Ellen McDonagh gene: D2HGDH was added gene: D2HGDH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: D2HGDH were set to 27604308 Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria |
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