Skeletal dysplasia
Gene: PHGDH
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
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.
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.
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
Added phenotypes Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815 for gene: PHGDH
Source NHS GMS was added to PHGDH. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for PHGDH were set to Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815
Mode of inheritance for PHGDH was changed to BIALLELIC, autosomal or pseudoautosomal
PHGDH was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
PHGDH was created by sleigh
PHGDH was added to Unexplained skeletal dysplasiapanel. Sources: