MTM1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Congenital myopathy

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• DDG2P

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Fetal anomalies

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Hydrocephalus

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Intellectual disability

Disease associations (Open Targets)

• X-linked myotubular myopathy

  0.86

• centronuclear myopathy

  0.66

• hereditary disease

  0.40

• congenital fiber-type disproportion myopathy

  0.36

• neurodegenerative disease

  0.35

• myopathy

  0.35

• neurodevelopmental disorder

  0.34

• Generalized hypotonia

  0.34

• Spastic paraplegia

  0.33

• Abnormality of metabolism/homeostasis

  0.33

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

Protein function (UniProt)