PROKR2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Hypogonadotropic hypogonadism

  BIALLELIC, autosomal or pseudoautosomal

• Hypogonadotropic hypogonadism (GMS)

  BIALLELIC, autosomal or pseudoautosomal

• IUGR and IGF abnormalities

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Paediatric pseudo-obstruction syndrome

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Pituitary hormone deficiency

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Monogenic short stature

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

• hypogonadotropic hypogonadism 3 with or without anosmia

  0.82

• Kallmann syndrome

  0.71

• hypogonadotropic hypogonadism

  0.66

• male infertility with azoospermia or oligozoospermia due to single gene mutation

  0.44

• Septo-optic dysplasia

  0.37

• Hirschsprung disease

  0.37

• hypogonadotropic hypogonadism 2 with or without anosmia

  0.34

• hereditary disease

  0.34

• Abnormality of the skeletal system

  0.28

• Male infertility with spermatogenesis disorder

  0.27

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

Protein function (UniProt)