GLB1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset leukodystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Fetal hydrops

  BIALLELIC, autosomal or pseudoautosomal

• GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• mucopolysaccharidosis type 4B

  0.85

• GM1 gangliosidosis type 1

  0.85

• GM1 gangliosidosis type 3

  0.84

• GM1 gangliosidosis type 2

  0.84

• GM1 gangliosidosis

  0.77

• mucopolysaccharidosis type 4

  0.54

• hereditary disease

  0.53

• asthma

  0.48

• mucopolysaccharidosis

  0.47

• atopic eczema

  0.41

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

Protein function (UniProt)