TABLE 2.
Results of solved cases—published genes
| Case | Mechanism to achieve diagnosis | Gene (*OMIM) | Genomic variant | Phenotype (#OMIM) | Reason pathogenic variant not detected/selected in original singleton ES |
|---|---|---|---|---|---|
| 1 | SNP array (Illumina Human CytoSNP‐12 v2.1) | ATAD3B/3A (*612316/*612317) | ATAD3B/3A 38,667 bp deletion | Cerebellar dysfunction with altered mitochondrial DNA and cholesterol metabolism (Desai et al., 2017) | Not tractable by ES (gene cluster deletion) |
| 2 | High‐density array (Illumina HumanOmni5 Exome‐4 v1.2) | NIPBL (*608667) | arr[hg19] 5p13.2(36791812_36895270)x1~2 | Cornelia de Lange syndrome (#122470) | Not tractable by ES (mosaic intragenic deletion) |
| 3 | Trio GS | SCN8A (*600702) |
NM_014191.3(SCN8A):c.2549G>A; NP_055006.1(SCN8A):p.(Arg850Gln) |
Early infantile epileptic encephalopathy 13 (#614558) | Low coverage |
| 4 | Trio ES | CHD7 (*608892) |
NM_017780.3(CHD7):c.5405‐7G>A; NP_060250.2(CHD7):p.(=) |
CHARGE syndrome (#214800) | Low coverage |
| 5 | Trio ES | WDR45 (*300526) |
NM_007075.3(WDR45):c.411_416delGTTTGA; NP_009006.2(WDR45):p.(Glu137_Phe138del) |
Neurodegeneration with brain iron accumulation 5 (#300894) | Low variant fraction |
Abbreviations: ES, exome sequencing; GS, genome sequencing; SNP, single nucleotide polymorphism.