PHGDH

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

+6 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• PHGDH deficiency

  0.81

• Neu-Laxova syndrome 1

  0.80

• 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

  0.69

• Neu-Laxova syndrome

  0.62

• peripheral neuropathy

  0.46

• macular telangiectasia type 2

  0.46

• osteomyelitis

  0.44

• neurometabolic disorder due to serine deficiency

  0.44

• hereditary disease

  0.42

• multiple sclerosis

  0.40

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)