MSMO1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bilateral congenital or childhood onset cataracts

  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

• Severe microcephaly

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Ichthyosis and erythrokeratoderma

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• microcephaly-congenital cataract-psoriasiform dermatitis syndrome

  0.80

• neurodegenerative disease

  0.44

• hereditary disease

  0.30

• adolescent idiopathic scoliosis

  0.28

• cervical squamous cell carcinoma

  0.07

• spermatocele

  0.07

• cervical carcinoma

  0.06

• cervical cancer

  0.06

• Parkinson disease

  0.05

• placental abruption

  0.04

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

Protein function (UniProt)