Skip to main content

Table 2 Molecular data for all individuals with variants in POGZ

From: POGZ truncating alleles cause syndromic intellectual disability

Citation Patient ID Gender Age of evaluation De novo Genotype Protein change Exon
This study 1 F 1.6 years Not maternal c.2321_2324delCTCT p.Ser774Cysfs*16 15/19
2 F 1.7 years + c.2763dupC p.Thr922Hisfs*22 19/19
3 M 3.8 years + c.833C > G p.Ser278* 6/19
4 F 5.1 years + c.2935C > T p.Arg979* 19/19
5 F 4 years + c.2780dupT p.Leu927Phefs*17 19/19
Previously reported Fukai et al. (2015) [21] M 5 years + c.3118G > A p.E1040K 19/19
Iossifov et al. (2014) [17] M NR + c.3022C > T p.Arg1008* 19/19
Iossifov et al. (2012) [18] M NR + c.3600_3607dupTGATGACG p.Glu1203Valfs*28 19/19
Neale et al. (2012) [19] F NR + c.2459_2462dupGTAC p.Phe822Tyrfs*43 17/19
Fromer et al. (2014) [20] F NR + c.3936delT p.Ile1312Metfs*7 19/19
Gilissen et al. (2014) [34] NR NR + c.3001C > T p.Arg1001* 19/19
Deciphering Dev. Disorders (2015) [35] NR NR + c.2711 T > A p.Leu904* 19/19
NR NR + c.3354delC p.Leu1119Cysfs* 19/19
  1. F female, M male, NR not reported