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Table 1 Pathogenic variants identified following routine diagnostic testing

From: Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

Sample number Gene Transcript Allele 1 Allele 2 Reference(s)
1 AHI1 NM_001134830.1 c.1983del (p.Trp662Glyfs*24) No mutation detected  
2 AHI1 NM_001134830.1 c.2495del (p.Leu832*) c.2495del (p.Leu832*) [24, 25]
3 CC2D2A NM_001080522.2 c.2803C > T (p.Arg935*) c.3774dup (p.Glu1259*)  
4 CC2D2A NM_001080522.2 c.2875del (p.Glu959Asnfs*3) c.2875del (p.Glu959Asnfs*3)  
5 CEP290 NM_025114.3 c.1975A > T (p.Lys659*) c.5668G > T (p.Gly1890*) [2628]
6 MKS1 NM_017777.3 c.262-2A > G (p.?) No mutation detected  
7 TCTN2 NM_024809.4 c.1506-2A > G (p.?) No mutation detected [29]
8 TCTN2 NM_024809.4 c.1506-2A > G (p.?) c.1506-2A > G (p.?) [29]
9 TCTN2 NM_024809.4 c.1506-2A > G (p.?) c.1506-2A > G (p.?) [29]
10 TCTN2 NM_024809.4 c.1506-2A > G (p.?) c.1506-2A > G (p.?) [29]
11 TMEM67 NM_153704.5 c.415_416del (p.Asp139Hisfs*2) c.415_416del (p.Asp139Hisfs*2)  
12 TMEM67 NM_153704.5 c.514C > T (p.Arg172*) c.622A > T (p.Arg208*) [30, 31]
13 TMEM67 NM_153704.5 c.579_580del (p.Gly195Ilefs*13) c.579_580del (p.Gly195Ilefs*13) [32]
14 TMEM67 NM_153704.5 c.1319G > A (p.Arg440Gln) c.1319G > A (p.Arg440Gln) [3134]
15 TMEM67 NM_153704.5 c.1960 + 1G > A (p.?) c.1046 T > C (p.Leu349Ser) [32, 33, 35]
16 TMEM237 NM_001044385.2 c.709del (p.Ala237Leufs*10) No mutation detected