Clefting disorders
Gene: PHGDH
PHGDH (phosphoglycerate dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000092621
EnsemblGeneIds (GRCh37): ENSG00000092621
OMIM: 606879, Gene2Phenotype
PHGDH is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000092621
EnsemblGeneIds (GRCh37): ENSG00000092621
OMIM: 606879, Gene2Phenotype
PHGDH is in 14 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- NEU-LAXOVA SYNDROME 1
- NLS1
- OMIM
- 606879
- Clinvar variants
- Variants in PHGDH
- Penetrance
- None
- Publications
- Panels with this gene
-
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Aminoacidopathy
- Skeletal dysplasia
- Leukodystrophy - paediatric
- Fetal anomalies
- Clefting disorders
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Hydrops fetalis
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
History Filter Activity
16 Sep 2020, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PHGDH was added gene: PHGDH was added to Clefting_GEL. Sources: Expert Review Amber Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHGDH were set to 25152457; 24836451 Phenotypes for gene: PHGDH were set to NEU-LAXOVA SYNDROME 1; NLS1