| Locus (OMIM) | Gene (OMIM) | Inheritance | Key Locus References (PubMed) | Key Gene References (PubMed) | Evidence (ClinGen)  |
|---|---|---|---|---|---|
| STL1 | COL2A1 | Autosomal Dominant | Francomano et al., 1987; Priestley et al., 1990 | Ahmad et al., 1991 | Definitive |
| STL2 | COL11A1 | Autosomal Dominant | Richards et al., 1996 | Richards et al., 1996 | not reviewed |
| OSMEDA/STL3 (see note 1) | COL11A2 | Autosomal Dominant | Brunner et al., 1994 | Vikkula et al., 1995 | Definitive |
| OSMEDB/STL3 (see note 1) | COL11A2 | Autosomal Recessive | Brunner et al., 1994 | Vikkula et al., 1995 | Definitive |
| STL4 | COL9A1 | Autosomal Recessive | Van Camp et al., 2006 | Van Camp et al., 2006 | Limited |
| STL5 | COL9A2 | Autosomal Recessive | Baker et al., 2011 | Baker et al., 2011 | Limited |
| STL6 | COL9A3 | Autosomal Recessive | Faletra et al., 2014 | Faletra et al., 2014 | Definitive |
Note 1: Otospondylomegaepiphyseal dysplasia (OSMED) is the same disorder as nonocular Stickler syndrome and Stickler syndrome type III (Spranger 1998; Pihlajamaa et al., 1998).