PHYH

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Peroxisomal disorders

  BIALLELIC, autosomal or pseudoautosomal

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

• Glaucoma (developmental)

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Disease associations (Open Targets)

• Refsum disease

  0.83

• adult Refsum disease

  0.76

• Retinal dystrophy

  0.50

• retinitis pigmentosa

  0.46

• hereditary disease

  0.41

• phytanoyl-CoA hydroxylase deficiency

  0.40

• eye disorder

  0.37

• orofacial cleft

  0.32

• alcohol drinking

  0.27

• vibrio infectious disease

  0.25

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

Protein function (UniProt)