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Prepair 1000+

Gene: PHGDH

Green List (high evidence)

PHGDH (phosphoglycerate dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000092621
EnsemblGeneIds (GRCh37): ENSG00000092621
OMIM: 606879, Gene2Phenotype
PHGDH is in 14 panels

1 review

Shakira Heerah (Victorian Clinical Genetics Services)

Green List (high evidence)

Neu-Laxova Syndrome: lethal multiple malformation syndrome
Phosphoglycerate dehydrogenase deficiency: inborn error of L-serine biosynthesis

Well established gene-disease association.
Created: 13 Jan 2025, 3:13 a.m. | Last Modified: 13 Jan 2025, 3:13 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neu-Laxova syndrome 1 MIM#256520; Phosphoglycerate dehydrogenase deficiency MIM#601815

Publications

History Filter Activity

16 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: phgdh has been classified as Green List (High Evidence).

16 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PHGDH were changed from Neu-Laxova syndrome1, 256520 (3) to Neu-Laxova syndrome 1 MIM#256520; Phosphoglycerate dehydrogenase deficiency MIM#601815

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PHGDH were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Neu-Laxova syndrome1, 256520 (3) for gene: PHGDH

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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)