HNRNPK

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Clefting

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Rare syndromic craniosynostosis or isolated multisuture synostosis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Limb disorders

• Skeletal dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Thoracic aortic aneurysm or dissection

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• Au-Kline syndrome

  0.79

• neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome

  0.69

• hereditary disease

  0.51

• neurodegenerative disease

  0.47

• dengue disease

  0.46

• Intellectual disability

  0.46

• viral infectious disease

  0.37

• infectious disease

  0.37

• neonatal encephalopathy

  0.34

• Generalized hypotonia

  0.27

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

Protein function (UniProt)