NFIX

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

  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

• Skeletal dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Childhood solid tumours

Disease associations (Open Targets)

• Malan overgrowth syndrome

  0.82

• Marshall-Smith syndrome

  0.79

• hereditary disease

  0.53

• craniosynostosis

  0.39

• Intellectual disability

  0.38

• marfanoid habitus and intellectual disability

  0.33

• brittle cornea syndrome

  0.28

• Global developmental delay

  0.27

• neurodevelopmental disorder

  0.27

• Strabismus

  0.27

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

Protein function (UniProt)