Skeletal dysplasia
Gene: PHGDHEnsemblGeneIds (GRCh38): ENSG00000092621
EnsemblGeneIds (GRCh37): ENSG00000092621
OMIM: 606879, Gene2Phenotype
PHGDH is in 14 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
multiple malformation syndrome with marked intrauterine growth restriction and limb deformities - >3 cases.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: PHGDH; Initial rating suggestion: green if SDCreated: 6 Mar 2019, 11:36 a.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotypes in OMIM and G2P. At least six variants reported in Phosphoglycerate dehydrogenase deficiency 601815 and four in Neu-Laxova syndrome 1 256520Created: 29 Jul 2016, 11:52 a.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 3Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Neu-Laxova syndrome 1 256520
- Phosphoglycerate dehydrogenase deficiency 601815
- OMIM
- 606879
- Clinvar variants
- Variants in PHGDH
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Ataxia and cerebellar anomalies - narrow panel
- White matter disorders and cerebral calcification - narrow panel
- Skeletal dysplasia
- Fetal hydrops
- Intellectual disability
- Early onset or syndromic epilepsy
- Fetal anomalies
- Cerebellar hypoplasia
- Clefting
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- DDG2P
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815 for gene: PHGDH
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to PHGDH. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PHGDH were set to Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for PHGDH was changed to BIALLELIC, autosomal or pseudoautosomal
Upload gene information
Sarah Leigh (Genomics England Curator)PHGDH was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Created
Sarah Leigh (Genomics England Curator)PHGDH was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)PHGDH was added to Unexplained skeletal dysplasiapanel. Sources: