PPP1R15B

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Familial diabetes

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic diabetes

  BIALLELIC, autosomal or pseudoautosomal

• Severe microcephaly

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• primary microcephaly-mild intellectual disability-young-onset diabetes syndrome

  0.67

• microcephaly, short stature, and impaired glucose metabolism 2

  0.61

• neurodegenerative disease

  0.46

• Parkinson disease

  0.46

• Alzheimer disease

  0.46

• multiple sclerosis

  0.46

• lysosomal storage disease

  0.46

• ovarian neoplasm

  0.22

• hereditary disease

  0.19

• neoplasm

  0.08

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

Protein function (UniProt)