Clefting
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
3 reviews
Louise Daugherty (Genomics England Curator)
Comment on publications: PMID: 25152457 one patient reported with a cleft palateCreated: 31 May 2017, 3:48 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on publications: PMID:
24836451 - one patient reported with a cleft palate, with a homozygous missense variant in this gene. Two other patients reported, clefting not described.Created: 31 May 2017, 3:40 p.m.
Olivia Niblock (Genomics England Curator)
Mutations in this gene have been linked to Neu-Laxova syndrome, a clinical phenotype of which is orofacial clefting. Two literature reports directly describing 2 unrelated patients with orofacial clefting (cleft palates and cleft lips), and another paper citing clefting under 'other phenotypes seen' with mutations in PHGDH.Created: 31 May 2017, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEU-LAXOVA SYNDROME 1; NLS1
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
- Complete
- Publications
- Panels with this gene
-
- Dystonia, chorea or related movement disorder, childhood onset
- Clefting
- Undiagnosed metabolic disorders
- DDG2P
- Inherited white matter disorders
- Fetal anomalies
- Fetal hydrops
- Ataxia and cerebellar anomalies - childhood onset
- Skeletal dysplasia
- White matter disorders and cerebral calcification - childhood onset
- Likely inborn error of metabolism
- Intellectual disability
- Early onset or syndromic epilepsy
- Cerebellar hypoplasia
History Filter Activity
31 May 2017, Gel status: 2
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
31 May 2017, Gel status: 2
Set publications
Louise Daugherty (Genomics England Curator)Publications for PHGDH were set to 24836451;25152457
31 May 2017, Gel status: 2
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PHGDH were set to 24836451
31 May 2017, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)PHGDH was added to Cleftingpanel. Sources: Expert Review Amber
31 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PHGDH was created by ellenmcdonagh