PCNT

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Insulin resistance (including lipodystrophy)

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• IUGR and IGF abnormalities

  BIALLELIC, autosomal or pseudoautosomal

• Limb disorders

  BIALLELIC, autosomal or pseudoautosomal

• Severe insulin resistance and lipodystrophy syndromes

  BIALLELIC, autosomal or pseudoautosomal

• Severe microcephaly

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• microcephalic osteodysplastic primordial dwarfism type II

  0.81

• hereditary disease

  0.53

• Insulin resistance

  0.47

• microcephalic primordial dwarfism

  0.38

• microcephalic osteodysplastic primordial dwarfism

  0.37

• type 2 diabetes mellitus

  0.37

• obesity disorder

  0.24

• placental retention

  0.24

• biliary tract disorder

  0.23

• Alzheimer disease

  0.22

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

Protein function (UniProt)