KAT6B

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Clefting

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• 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, imprinted status unknown

• Structural eye disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• genitopatellar syndrome

  0.79

• blepharophimosis - intellectual disability syndrome, SBBYS type

  0.78

• Blepharophimosis-intellectual disability syndrome, SBBYS type

  0.76

• KAT6B-related multiple congenital anomalies syndrome

  0.67

• hereditary disease

  0.54

• Intellectual disability

  0.52

• neurodevelopmental disorder

  0.43

• prostate adenocarcinoma

  0.43

• colorectal adenocarcinoma

  0.37

• esophageal adenocarcinoma

  0.37

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

Protein function (UniProt)