FGF8

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Holoprosencephaly

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hypogonadotropic hypogonadism

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Hypogonadotropic hypogonadism (GMS)

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• IUGR and IGF abnormalities

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Pituitary hormone deficiency

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Monogenic short stature

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Skeletal dysplasia

  Unknown

Disease associations (Open Targets)

• hypogonadotropic hypogonadism 6 with or without anosmia

  0.76

• hypogonadotropic hypogonadism

  0.61

• cancer

  0.61

• Kallmann syndrome

  0.60

• bone development disease

  0.60

• holoprosencephaly

  0.59

• neurodegenerative disease

  0.46

• semilobar holoprosencephaly

  0.45

• ovarian carcinoma

  0.39

• septopreoptic holoprosencephaly

  0.38

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

Protein function (UniProt)