RAP1B

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cytopenia - NOT Fanconi anaemia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Cytopenias and congenital anaemias

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Bleeding and platelet disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Monogenic short stature

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Kabuki syndrome

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies

  0.68

• cancer

  0.61

• Noonan syndrome

  0.53

• syndromic intellectual disability

  0.51

• neurodegenerative disease

  0.50

• hypertrophic cardiomyopathy

  0.50

• Costello syndrome

  0.50

• cardiofaciocutaneous syndrome

  0.37

• protozoa infectious disease

  0.27

• placental retention

  0.24

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

Protein function (UniProt)