NLRP5:Ensemblv90

NLR family pyrin domain containing 5
OMIM: 609658, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green NLRP5 in Mendeliome


Version 1.3802

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Early embryonic arrest
  • Multi locus imprinting disturbance in offspring

Amber NLRP5 in Growth failure


Version 1.87

1 review Other
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Short stature
  • Failure to thrive
  • multilocus imprinting disturbances
  • IUGR

Green NLRP5 in Imprinting disorders


Version 1.9

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Phenotype resulting from under expression: Biparental complete hydatidiform mole, Beckwith-Wiedemann Syndrome, Multi-locus imprinting disorder
  • Affected tissue: all

Amber NLRP5 in Growth failure


Version 2.0

1 review Other
Sources
  • Genomics England PanelApp
  • Expert Review Amber
Phenotypes
  • Short stature
  • Failure to thrive
  • multilocus imprinting disturbances
  • IUGR

Green NLRP5 in Imprinting disorders


Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Phenotype resulting from under expression: Biparental complete hydatidiform mole, Beckwith-Wiedemann Syndrome, Multi-locus imprinting disorder
  • Affected tissue: all