Table 1.
Genes that were implicated in Certain, Highly Likely, Tentative Diagnoses and as Candidates in 26/38 Individuals
| Mode of Diagnosis | Certain Diagnoses n=12 | Highly Likely Diagnoses= 6 | Tentative Diagnoses=3 | Candidate Genes=5 |
|---|---|---|---|---|
| Genes detected on ES reanalyses | AGTPBP1, CACNA1A, EFL1, NACC1, NPHP1 | CACNA1C, IRF2BPL, MYBPC1 | HNRNPK | CTBS, DROSHA, KRT19, RNF2 |
| Targeted Sanger Sequencing/MLPA | ANTXR2, PLA2G6 | None | None | None |
| WGS | HDAC8, MECP2 | ITPA | CAD, SON | TBX2 |
| Clinical diagnosis | Oral-facial-digital syndrome, unspecified type | Multiple Pterygium syndrome | None | None |
| Other | Phenotype directed reinterpretation of ES: HEPACAM Repeat ES through UDN: ASXL2 |
Chromosomal microarray reinterpretation: 16p11.2 deletion | None | None |