NLRP7

NLR family pyrin domain containing 7
OMIM: 609661, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green NLRP7 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hydatidiform mole, recurrent, 1 - MIM#231090

Red NLRP7 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Hydatidiform mole

Green NLRP7 in Incidentalome_PREGEN_DRAFT


Version 0.43

review Unknown
Sources
  • NSW Health Pathology
  • Expert Review Green

Amber NLRP7 in Growth failure


Version 1.76

review Other
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • IUGR

Green NLRP7 in Imprinting disorders


Version 1.3

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Affected tissue: all (incompatible with life)
  • hydatidiform mole, recurrent, 1 MONDO:0009273
  • Phenotype resulting from under expression: Biparental complete hydatidiform mole
  • Multi Locus Imprinting Disturbance

Red NLRP7 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hydatidiform mole