PARP6

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Early onset or syndromic epilepsy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• COVID-19

  0.37

• severe acute respiratory syndrome

  0.37

• Intellectual disability

  0.25

• epilepsy

  0.25

• microcephaly

  0.25

• neurodevelopmental disorder

  0.12

• colorectal carcinoma

  0.08

• gout

  0.07

• Tinnitus

  0.06

• neoplasm

  0.06

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

Protein function (UniProt)