TABLE 1.
Variants in the “Solved” patients
| Gene | Solved | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| N | Transcript | Genotype | Chromosome | SIFT | Polyphen2 | ExAC database | Multiplex/simplex family | Zygosity | Solved | ACMG | |
| ADGRV1 | 1 | NM_032119 | c.8551G>T | chr5:90001381 | — | — | — | Simplex | Het | Solved | Pathogenic |
| c.12631C>T | chr5:90073825 | — | — | — | Het | Pathogenic | |||||
| CHD7 | 1 | NM_017780 | c.1714C>T | chr8:61693607 | — | — | — | Simplex | Het | Solved | Pathogenic |
| CLDN14 | 1 | NM_001146077 | c.202C>T | chr21:37833792 | — | — | — | Simplex | Hom | Solved | Pathogenic |
| POU3F4 | 1 | NM_000307 | EX1 DEL | — | — | — | — | Multiplex | Hemi | Solved | Pathogenic |
| MT‐RNR1 | 1 | NC_012920 | m.1555A>G | Simplex | Hom | Solved | Pathogenic | ||||
| 7 | NC_012920 | m.1555A>G | Multiplex | Hom | Solved | Pathogenic | |||||
| MYO7A | 1 | NM_000260 | c.1679A>C | chr11:76874023 | Damaging | Probably damaging | — | Simplex | Het | Solved | Likely pathogenic |
| c.6115G>C | chr11:76922260 | Damaging | Probably damaging | — | Het | Likely pathogenic | |||||
| 1 | NM_000260 | c.2183T>C | chr11:7688650 | Damaging | Probably damaging | — | Simplex | Het | Solved | Likely pathogenic | |
| c.2187 +2_+8 delTGAGCAC |
chr11:7688651 2..768865186 |
— | — | — | Het | Pathogenic | |||||
| PCDH15 | 1 | NM_033056 | c.1864_1865 insTA | chr10:55892687..55892688 | — | — | — | Simplex | Het | Solved | Pathogenic |
| c.2220+1G>A | chr10:55826516 | — | — | — | Het | Pathogenic | |||||
| SLC26A4 | 2 | NM_000441 | c.919‐2A>G | chr7:107323898 | — | — | 0.000306 | Simplex | Hom | Solved | Pathogenic |
| 1 | c.919‐2A>G | chr7:107323898 | — | — | 0.0003058 | Multiplex | Het | Solved | Pathogenic | ||
| c.915_916 insG | chr7:1073237966..107323797 | — | — | 0.00001650 | Het | Pathogenic | |||||
| 1 | c.919‐2A>G | chr7:107323898 | — | — | 0.000306 | Multiplex | Hom | Solved | Pathogenic | ||
| 1 | c.2027T>A | chr7:107342495 | Damaging | Damaging | — | Simplex | Het | Solved | Pathogenic | ||
| c.2168A>G | chr7:107350577 | Probably damaging | Probably damaging | 0.0001238 | Het | Pathogenic | |||||
| 1 | c.919‐2A>G | chr7:107323898 | — | — | 0.0003058 | Multiplex | Het | Solved | Pathogenic | ||
| EX5_6 DEL | — | — | — | — | Het | Pathogenic | |||||
| 1 | c.1991C>T | chr7:107342459 | Tolerated | Damaging | — | Multiplex | Het | Solved | Pathogenic | ||
| c.2168A>G | chr7:107350577 | Probably damaging | Probably damaging | 0.0001238 | Het | Pathogenic | |||||
| 1 | c.1174A>T | chr7:107330593 | Damaging | Probably damaging | 0.000008242 | Simplex | Hom | Solved | Pathogenic | ||
| 1 | c.2168A>G | chr7:107350577 | Probably damaging | Probably damaging | 0.0001238 | Simplex | Het | Solved | Pathogenic | ||
| EX1_3 DEL | — | — | — | Het | Pathogenic | ||||||
| TRIOBP | 1 | NM_001039141 | c.1342C>T | chr22:38119905 | — | — | — | Simplex | Het | Solved | Pathogenic |
| c.2074C>T | chr22:38120637 | — | — | — | Het | Pathogenic | |||||
| USH1C | 1 | NM_153676 | c.388‐1G>A | chr11:17548879 | — | — | — | Simplex | Hom | Solved | Pathogenic |
| USH2A | 1 | NM_206933 | c.99_100insT | chr1:216595579..216595580 | — | — | — | Simplex | Het | Solved | Pathogenic |
| c.11660G>A | chr1:215914768 | — | — | — | Het | Pathogenic | |||||
| OTOF | 1 | NM_194248 | c.2236C>T | chr2:26700596 | Tolerated | Benign | 0.00001 | Simplex | Hom | Solved | Likely pathogenic |
| 1 | NM_194248 | c.4747C>T | chr2:26688592 | Damaging | Probably damaging | 0.00002471 | Multiplex | Hom | Solved | Likely pathogenic | |
| ILDR1 | 1 | NM_175924 | c.206C>A | chr3:121725861 | Tolerated | Probably damaging | 0.00004 | Simplex | Hom | Solved | Pathogenic |
| CDH23 | 1 | NM_022124 | c.6442G>A | chr10:73553127 | Tolerated | Probably damaging | — | Simplex | Hom | Solved | Likely pathogenic |
| EYA1 | 1 | NM_000503 | EX1_18 DEL | — | — | — | — | Simplex | Het | Solved | Pathogenic |
| SOX10 | 1 | NM_006941 | c.378C>A | chr22:38378414 | — | — | — | Simplex | Het | Solved | Likely pathogenic |
| WFS1 | 1 | NM_006005 | c.1356_1371delGCCCTACACGCGCAGG | chr4:6302878..6302893 | — | — | — | Simplex | Het | Solved | Likely pathogenic |
| COCH | 1 | NM_004086 | c.847G>A | chr14:31354713 | Tolerated | Probably damaging | — | Simplex | Het | Solved | Likely pathogenic |
| MITF | 1 | NM_198159 | c.1021C>G | chr3:70008431 | Damaging | Probably damaging | — | Simplex | Het | Solved | Likely pathogenic |
Abbreviations: ACMG, a technical standard of the American College of Medical Genetics and Genomics; Exac Database, Exome Aggregation Consortium (ExAC) database.