MBTPS2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Clefting

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

• Ectodermal dysplasia

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

• Familial cicatricial alopecia

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

• Fetal anomalies

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

• Intellectual disability

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

• Palmoplantar keratodermas

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

• Osteogenesis imperfecta

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

• Skeletal dysplasia

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

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Disease associations (Open Targets)

• IFAP syndrome 1, with or without BRESHECK syndrome

  0.76

• keratosis follicularis spinulosa decalvans

  0.62

• BRESEK syndrome

  0.60

• Olmsted syndrome 1

  0.56

• osteogenesis imperfecta, type 19

  0.51

• IFAP syndrome

  0.50

• neurodegenerative disease

  0.50

• Olmsted syndrome

  0.46

• cicatricial alopecia

  0.46

• osteogenesis imperfecta type 4

  0.37

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

Protein function (UniProt)