SETD5

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, NOT imprinted

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Skeletal dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Cerebral vascular malformations

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Monogenic short stature

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

  0.82

• hereditary disease

  0.55

• autosomal dominant non-syndromic intellectual disability

  0.53

• Intellectual disability

  0.51

• neurodegenerative disease

  0.45

• neurodevelopmental disorder

  0.44

• developmental disability

  0.44

• KBG syndrome

  0.43

• Neurodevelopmental abnormality

  0.42

• type 2 diabetes mellitus

  0.39

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

Protein function (UniProt)