SETBP1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• 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

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Cytopenias and congenital anaemias

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• Schinzel-Giedion syndrome

  0.82

• intellectual disability, autosomal dominant 29

  0.75

• chronic myelogenous leukemia, BCR-ABL1 positive

  0.66

• myelodysplastic syndrome

  0.66

• acute myeloid leukemia

  0.66

• hereditary disease

  0.52

• Intellectual disability

  0.50

• juvenile myelomonocytic leukemia

  0.49

• hypertensive disorder

  0.49

• breast carcinoma

  0.48

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

Diseases associated with SETBP1

Curated MONDO disease pages that list SETBP1 among their top associated genes.

• myelodysplastic syndromeRare