Table 2

Regions of Mendelian inconsistency stretches reported by SNPTrio

IDGenesType*No of SNPsp ValueCoordinatesIn DGVCNAG§Aroma
SRS-hypo-1PARK2iUPI-P110chr6:161907040-162239135YesYesYes
PRKCiUPI-M50.095chr17:61848043-61912613NoYesYes
SRS-hypo-2ADAMTS18UPI-M31chr16:75930540-75930762YesNoYes
SRS-hypo-912q13.2UPI-P30.002chr12:53281471-53282139NoNoNo
SRS-ue-1FBXL7UPI-M40chr5:15772222-15773106YesNoNo
18q12.1iUPI-P30.005chr18:24449765-24450128YesNoNo
SRS-ue-2FBXL7UPI-M40chr5:15772222-15773106YesNoNo
SRS-ue-422q11.21-q11.22iUPI-M110chr22:20745811-21169559YesYesYes
SRS-ue-5PLEKHG7/EEA1iUPI-P120chr12:91357737-91875727NoYesYes
SRS-ue-6IGF1RiUPI-M180chr15:96859330-98016953YesYesYes
IGF1RiUPI-M90chr15:98242128-99369237YesYesYes
SRS-ue-8PLSCR5iUPI-M40.001chr3:147771493-148053582YesNoNo
5p15.31iUPI-P30.038chr5:7242467-7242925YesNoNo
21q22.3iUPI-M40.001chr21:45788806-45806899NoNoYes
SRS-ue-1114q31.2UPI-M40.569chr14:82588893-82594564NoYesNo
  • * iUPI means identical uniparental inheritance. To be called identical, the transmitting parent needs to be a heterozygote; otherwise the term UPI is used. M and P refers to maternal and paternal.

  • p Values are calculated in SNPTrio; please see Ting et al13 for details.

  • Has this region been reported to the database of genomic variants (DGV; http://projects.tcag.ca/variation/)?

  • § Matching copy number variant identified with CNAG (see Methods)?

  • Matching copy number variant identified with Aroma.Affymetrix (see Methods)?

  • SNP, single-nucleotide-polymorphism; SRS, Silver–Russell syndrome.