NLRP7

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Multi locus imprinting disorders

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Monogenic short stature

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Disease associations (Open Targets)

• hydatidiform mole, recurrent, 1

  0.80

• hydatidiform mole

  0.56

• complete hydatidiform mole

  0.53

• hereditary disease

  0.19

• fetal growth restriction

  0.19

• Short stature

  0.18

• short stature due to GHSR deficiency

  0.18

• neurodegenerative disease

  0.18

• neoplasm

  0.10

• Alzheimer disease

  0.09

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

Protein function (UniProt)