NSD1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

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

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood solid tumours

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Congenital hyperinsulinism

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Early onset or syndromic epilepsy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hydrocephalus

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

+3 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• Sotos syndrome

  0.85

• Beckwith-Wiedemann syndrome

  0.74

• acute myeloid leukemia

  0.66

• hereditary disease

  0.55

• head and neck squamous cell carcinoma

  0.52

• Weaver syndrome

  0.51

• neurodegenerative disease

  0.50

• neurodevelopmental disorder

  0.48

• Intellectual disability

  0.43

• Neurodevelopmental delay

  0.43

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

Protein function (UniProt)