NR5A1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital adrenal hypoplasia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Differences in sex development

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Primary ovarian insufficiency

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• 46,XY sex reversal 3

  0.79

• premature ovarian failure 7

  0.76

• spermatogenic failure 8

  0.76

• 46,XX testicular disorder of sex development

  0.67

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

  0.66

• 46,XY partial gonadal dysgenesis

  0.64

• primary ovarian failure

  0.62

• spermatogenic failure 1

  0.56

• 46,XY disorder of sex development

  0.55

• disorder of sexual differentiation

  0.51

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

Protein function (UniProt)