IER3IP1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Diabetes with additional phenotypes suggestive of a monogenic aetiology

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Familial diabetes

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Neonatal diabetes

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• microcephaly, epilepsy, and diabetes syndrome 1

  0.79

• microcephaly, epilepsy, and diabetes syndrome

  0.68

• neurodegenerative disease

  0.55

• Intellectual disability

  0.37

• lysosomal storage disease

  0.24

• hereditary disease

  0.19

• diabetes mellitus

  0.07

• Abnormal urine sodium concentration

  0.06

• Abnormality of the skeletal system

  0.05

• alcohol drinking

  0.05

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

Protein function (UniProt)