Table 1. Summary of covered syndromes.
| Mode of inheritance | Syndrome | Locus/Gene | OMIM number |
|---|---|---|---|
| Autosomal dominant | Neurofibromatosis 2 | NF2 | 607379 |
| Branchio-oto-renal syndrome | EYA1 | 601653 | |
| EYA2 | 601654 | ||
| EYA3 | 601655 | ||
| SIX1 | 601205 | ||
| SIX5 | 600963 | ||
| Treacher Collins | TCOF1 | 606847 | |
| POLR1D | 613715 | ||
| POLR1C | 610060 | ||
| Stickler syndrome | STL1/COL2A1 | 120140 | |
| STL2/COL11A2 | 120290 | ||
| STL3/COL11A1 | 120280 | ||
| STL4/COL9A1 | 614134 | ||
| STL5/COL9A2 | 614284 | ||
| Waardenburg syndrome | PAX3 | 606597 | |
| MITF | 156845 | ||
| SNAI2 | 602150 | ||
| EDN3 | 131242 | ||
| EDNRB | 131244 | ||
| SOX10 | 602229 | ||
| Autosomal recessive | Pendred syndrome | PDS/SLC26A4 | 605646 |
| Jervell and Lange–Nielsen syndrome | JLNS1/KCNQ1 | 607542 | |
| JLNS2/KCNE1 | 176261 | ||
| Usher syndrome | USH1B/MYO7A | 276903 | |
| USH1C | 605242 | ||
| USH1D/CDH23 | 605516 | ||
| USH1E | 602097 | ||
| USH1F/PCDH15 | 605514 | ||
| USH1G/SANS | 607696 | ||
| USH1H | 612632 | ||
| USH1J/CIB2 | 605564 | ||
| USH1K | 614990 | ||
| USH2A | 608400 | ||
| USH2C/ADGRV1 | 602851 | ||
| USH2D/WHRN | 607928 | ||
| USH3A/CLRN1 | 606397 | ||
| USH3B/HARS | 142810 | ||
| Refsum disease | PHYH/PAHX | 602026 | |
| PEX7 | 601757 | ||
| X-linked dominant | Alport syndrome | COL4A5 | 303630 |
| COL4A3 | 120070 | ||
| COL4A4 | 120131 | ||
| Mitochondrial | MELAS | MTTL1 | 590050 |
| MERRF | MTTK | 590060 |
Abbreviations: MELAS, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes; MERRF, myoclonic epilepsy with ragged red fibers; OMIM, Online Mendelian Inheritance in Man.