CCDC186

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic short stature

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Failure to thrive

  0.34

• microcephaly

  0.34

• Relative macrocephaly

  0.34

• pulmonary valve stenosis

  0.34

• Severe global developmental delay

  0.34

• Growth delay

  0.34

• Developmental stagnation

  0.34

• Seizure

  0.34

• hypothyroidism

  0.34

• EEG with spike-wave complexes

  0.34

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