FBRSL1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Severe microcephaly

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• congenital heart disease

  0.51

• Abnormal heart morphology

  0.50

• type 2 diabetes mellitus

  0.50

• microcephaly

  0.47

• Intellectual disability

  0.46

• hearing loss disorder

  0.46

• Hearing impairment

  0.46

• cleft palate

  0.46

• contracture

  0.46

• diabetes mellitus

  0.42

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