Cerebellar hypoplasia

Gene: PHGDH

Amber List (moderate evidence)

PHGDH (phosphoglycerate dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000092621
EnsemblGeneIds (GRCh37): ENSG00000092621
OMIM: 606879, Gene2Phenotype
PHGDH is in 16 panels

1 review

Alice Gardham (Genomics England)

I don't know

Unclear how many individuals with mutations in this gene will have cerebellar hypoplasia
Created: 14 Nov 2016, 4:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neu-Laxova syndrome 1, 256520

Publications

History Filter Activity

22 Feb 2017, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

14 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

PHGDH was created by agardham

14 Nov 2016, Gel status: 2

Added New Source

Alice Gardham (Genomics England)

PHGDH was added to Cerebellar hypoplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Literature