PYCR1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Ehlers Danlos syndrome with a likely monogenic cause

  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

• Childhood onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

• autosomal recessive cutis laxa type 2B

  0.82

• PYCR1-related de Barsy syndrome

  0.78

• cutis laxa

  0.64

• hereditary disease

  0.52

• geroderma osteodysplastica

  0.37

• de Barsy syndrome

  0.37

• Intellectual disability

  0.37

• Abnormality of connective tissue

  0.34

• neurodegenerative disease

  0.27

• lung cancer

  0.15

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

Protein function (UniProt)