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Table 1 The evolution of diagnostic yield; 31 novel genetic diagnoses after 5 years of systematic follow-up

From: Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

Patient IDa Gender   Variant in VCF 2015 Gene in panel 2015   This study Initial analysis 2015a
Gene Step Identified by Note Result Gene
6 F HNRNPK Yes No 1 Variant reclassification (new disease-gene) OMIM: 616580 Possible HNRNPK
32 F CSNK2A1 Yes No 1 Variant reclassification (new disease-gene) OMIM: 617062 Possible CSNK2A1
40 F ADPRHL2 Yes No 1 Variant reclassification (new disease-gene) OMIM: 618170 Possible ADPRHL2
46 M DHX30 Yes No 1 Variant reclassification (new disease-gene) OMIM: 617804 Possible DHX30
48 M CSNK2B Yes No 3 Variant reclassification (new disease-gene) OMIM: 618732 Possible CSNK2B
84 M c19orf12 Yes No 1 Variant reclassification (new disease-gene) OMIM: 614298 Possible C19orf12
104 F PPP2CA Yes No 1 Variant reclassification (new disease-gene) OMIM: 618354 Possible PPP2CA
109 M KAT8 Yes No 3 Variant reclassification (new disease-gene) OMIM: 618974 Possible KAT8
112 M SNORD118 Yes No 1 Variant reclassification (new disease-gene) OMIM: 614561 Possible SNORD118
93 M TBC1D24 Yes Yes 3 Variant reclassification (additional disease-gene) PMID: 31257402 Possible TBC1D24
34 M HSD17B10 Yes Yes 1 Variant reclassification (additional testing) Metabolic investigation Possible HSD17B1
103 M ACSL4 Yes Yes 1 Variant reclassification (additional testing) Mother de novo Possible ACSL4
147 F PIK3R2 Yes Yes 1 Reanalysis (additional testing) Segregation in affected brother Possible (other) DHCR24
138 M NAA15 Yes No 1 Update pipeline (gene panel-new) OMIM: 617787 No cause –
129 F SRCAP Yes Yes 3 Update pipeline (gene panel-additional); variant reclassification (additional disease-gene) PMID: 33909990 No cause –
113 M NALCN Yes Yes 2 Update pipeline (gene panel-additional) OMIM: 616266 Possible (other) PRPF40B
58 F SLC6A1 Yes Yes 1 Update pipeline (CNV) - Possible (other) HOXD3
143 M FOXP1 Yes Yes 2 Update pipeline (SNV); reanalysis (additional testing) Intronic (+ 26) loss of branchpoint; splicedefect confirmed on RNA No cause –
53 F ANKRD11 No Yes 2 Update pipeline (quality parameters) 3/7 reads (<# reads)b No cause –
105 M ANKRD11 Yes Yes 2 Update pipeline (quality parameters) 16/31 reads (low quality) No cause –
140 F TSC1 No Yes 1 Update pipeline (quality parameters) 21/123 (<%variant reads)b No cause –
26 M EP300 Yes Yes 3 Update pipeline (quality parameters) 10/78 reads (<%variant reads) Possible (other) ZNF41
3 M PRPS1 No No 1 Resequencing; variant reclassification (HGMD) PMID: 31434166 No cause –
7 F LAMA1 No; yes No 1 Resequencing - No cause –
9 F ARX No Yes 1 Resequencing - No cause –
24 M PAK1 No No 3 Resequencing - No cause –
36 F SATB2 No Yes 1 Resequencing - No cause –
79 F NUS1 No No 3 Resequencing - No cause –
14 F NSUN2 No No 3 Resequencing - Possible (other) several
28 F KMT2B No No 1 Resequencing - Possible (other) PNPLA6
47 M KMT2D No Yes 3 Resequencing - Possible (other) ZNF711
  1. aPatient ID corresponds to original publication (Vissers et al. GiM 2017) [1]
  2. bVisible in BAM file
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Genome Medicine

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