KAT6A

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• 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

Disease associations (Open Targets)

• autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

  0.79

• neurodegenerative disease

  0.56

• hereditary disease

  0.55

• syndromic intellectual disability

  0.54

• Intellectual disability

  0.50

• autism spectrum disorder

  0.43

• neurodevelopmental disorder

  0.41

• lung carcinoma

  0.37

• colorectal adenocarcinoma

  0.37

• nodular malignant melanoma

  0.37

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

Protein function (UniProt)