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Table 1 Genetic Prevalence of ENPP1 Deficiency

From: Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases

 

Known pathogenic/Likely pathogenic

Known pathogenic/Likely pathogenic and LOF presumed pathogenic

Known pathogenic/Likely pathogenic and all presumed pathogenic

VUS excluded

1/1,033,927

1/334,177

1/82,620

VUS included

1/471,585

1/206,123

1/64,035

  1. The genetic prevalence was calculated using the Hardy–Weinberg equilibrium equation and the sum of the allele frequencies of the specified variants. The ratio represents the proportion of pregnancies that have an ENPP1 Deficiency associated genotype
  2. Known Pathogenic/Likely Pathogenic variants that were classified as Pathogenic/Likely Pathogenic by ACMG/AMP
  3. LOF Presumed Pathogenic start loss, nonsense, frameshift, and canonical splice site variants that were found in gnomAD but not the published literature
  4. All Presumed Pathogenic LOF Presumed Pathogenic variants in addition to predicted damaging missense variants that were found in gnomAD but not the published literature
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172