BMP15

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Primary ovarian insufficiency

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

• Intellectual disability

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

Disease associations (Open Targets)

• 46,XX gonadal dysgenesis

  0.72

• primary ovarian failure

  0.71

• premature ovarian failure 4

  0.47

• 46 XX gonadal dysgenesis

  0.37

• Primary amenorrhea

  0.35

• genetic non-acquired premature ovarian failure

  0.32

• neurodegenerative disease

  0.22

• hereditary disease

  0.19

• polycystic ovary syndrome

  0.11

• oocyte maturation defect 6

  0.07

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

Protein function (UniProt)