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| Aminoacidopathy v1.81 | PHGDH | Zornitza Stark Classified gene: PHGDH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.81 | PHGDH | Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.66 | PHGDH |
Sangavi Sivagnanasundram gene: PHGDH was added gene: PHGDH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHGDH were set to 37347880; 19235232; 24836451; 28440900; 22393170; 25913727 Phenotypes for gene: PHGDH were set to neurometabolic disorder due to serine deficiency MONDO:0018162 Review for gene: PHGDH was set to GREEN Added comment: Established gene-disease association. >10 unrelated probands reported with an inborn error of serine deficiency. LoF is the mechanism of disease (PMID: 37347880). Classified as Definitive by ClinGen Aminoacidopathy GCEP on 29/06/2020 https://search.clinicalgenome.org/CCID:005786 Sources: ClinGen |
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