Cerebellar hypoplasia
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
1 review
Alice Gardham (Genomics England)
Unclear how many individuals with mutations in this gene will have cerebellar hypoplasiaCreated: 14 Nov 2016, 4:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neu-Laxova syndrome 1, 256520
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Literature
- Phenotypes
-
- Neu-Laxova syndrome 1, 256520
- OMIM
- 606879
- Clinvar variants
- Variants in PHGDH
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - childhood onset
- Cerebellar hypoplasia
- Early onset or syndromic epilepsy
- Ataxia and cerebellar anomalies - childhood onset
- Likely inborn error of metabolism
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Skeletal dysplasia
- Clefting
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Fetal hydrops
- DDG2P
- Fetal anomalies
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