NLRP7

NLR family pyrin domain containing 7
OMIM: 609661, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green NLRP7 in Genomic imprinting


Version 0.138

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Imprinting GeCIP Subdomain
Phenotypes
  • Phenotype resulting from under expression: Biparental complete hydatidiform mole
  • Affected tissue: all (incompatible with life)
  • Multi Locus Imprinting Disturbance
  • hydatidiform mole, recurrent, 1 MONDO:0009273

Amber NLRP7 in Growth failure in early childhood


Version 1.109
Latest signed off version: v1.4 (3 Mar 2020)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • IUGR
  • Short stature
  • fetal wastage
  • Multi Locus Imprinting Disturbance
  • Hydatidiform mole, recurrent, 1 OMIM:231090
  • hydatidiform mole, recurrent, 1 MONDO:0009273

Green NLRP7 in Multi locus imprinting disorders


Level 2: Endocrinology
Version 0.14

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Imprinting GeCIP Subdomain
Phenotypes
  • Phenotype resulting from under expression: Biparental complete hydatidiform mole
  • Affected tissue: all (incompatible with life)
  • Multi Locus Imprinting Disturbance
  • hydatidiform mole, recurrent, 1 MONDO:0009273