MAN2B1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bilateral congenital or childhood onset cataracts

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Hydrocephalus

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Lysosomal storage disorder

  BIALLELIC, autosomal or pseudoautosomal

• Rare syndromic craniosynostosis or isolated multisuture synostosis

  BIALLELIC, autosomal or pseudoautosomal

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• alpha-mannosidosis

  0.86

• hereditary disease

  0.52

• Intellectual disability

  0.43

• alpha-mannosidosis, adult form

  0.38

• alpha-mannosidosis, infantile form

  0.38

• craniosynostosis

  0.34

• methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

  0.33

• secondary malignant neoplasm

  0.15

• myoepithelial tumor

  0.11

• pulmonary emphysema

  0.08

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

Protein function (UniProt)