ITM2B

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset leukodystrophy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Early onset dementia (encompassing fronto-temporal dementia and prion disease)

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Familial cerebral small vessel disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Retinal disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• ABri amyloidosis

  0.73

• ADan amyloidosis

  0.73

• ITM2B amyloidosis

  0.70

• retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies

  0.53

• AL amyloidosis

  0.46

• retinoblastoma

  0.34

• enteritis

  0.28

• digestive system disorder

  0.25

• self-injurious ideation

  0.22

• hereditary disease

  0.19

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

Protein function (UniProt)