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Table 2 Details of heterozygous or hemizygous pathogenic/likely pathogenic variants identified in this study

From: Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis

Sample % ROH Gene Chr Position HGVS (nucleotide) HGVS (protein) Variation type ExAC Allele Count/Total Allele No. Classification Associated Disorders
ROH07 10 PNPLA4 X 7,870,101 c.559C > T p.R187* Stop-gain 2/87731 Likely pathogenic Mitochondrial respiratory chain complex deficiencies
ROH21 5.89 CADM1 11 115,088,681 c.752A > C p.Y251S Missense 42/121050 Likely pathogenic Susceptibility to ASD
ROH23 3.6 HBB 11 5,248,155 c.92 + 5G > C Splice region 87/121280 Likely pathogenic Beta thalassaemia
ROH23 3.6 HBB 11 5,248,224 c.27dupG p.Ser10Valfs*14 Frameshift 34/121344 Likely pathogenic Beta thalassaemia
ROH34 5.3 SOS1 2 39,278,394 c.755 T > C p.I252T Missense 9/121342 Pathogenic Noonan syndrome
ROH37 6.13 SFTPC 8 22,020,159 c.115G > A p.V39M Missense 4/120740 Likely pathogenic Interstitial lung disease
ROH44 24.55 OTC X 38,226,630 c.164A > G p.Y55C Missense 0/121412 Likely pathogenic Ornithine transcarbamylase deficiency
ROH45 15.8 PNPLA4 X 7,870,101 c.559C > T p.R187* Stop-gain 2/87731 Likely pathogenic Mitochondrial respiratory chain complex deficiencies
ROH52 18.1 ASMT X 1,748,834 c.562 + 2 T > C Splice donor 168/121412 Pathogenic Susceptibility to ASD