MTX2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Extreme early-onset hypertension

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic short stature

  BIALLELIC, autosomal or pseudoautosomal

• Severe insulin resistance and lipodystrophy syndromes

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• mandibuloacral dysplasia progeroid syndrome

  0.72

• mandibuloacral dysplasia

  0.51

• lipodystrophy

  0.50

• skeletal dysplasia

  0.37

• hypertensive disorder

  0.33

• Abnormal mandible morphology

  0.33

• Dental crowding

  0.33

• Abnormality of skin pigmentation

  0.33

• Abnormality of body height

  0.33

• Micrognathia

  0.33

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

Protein function (UniProt)