Table 5. Digenic cases related to Bardet-Biedl syndrome available in DIDA. In the Class column, ‘TD’ refers to the true digenic and ‘CO’ to the composite class. The symbol ‡ indicates that the variant enhances the use of a cryptic splice acceptor site, making it a severe variant. The gene CCDC28B is called MGC1203 in the reference publication (26). For more information about these digenic combinations, see Supplementary Table S5.
| id | Gene A | Variants | Gene B | Variants | Class |
|---|---|---|---|---|---|
| dd074 | BBS2 | Y24*/Q59* | MKKS | Q148*/+ | TD |
| dd075 | BBS2 | T558I/T558I | BBS4 | A364E/A364E | TD |
| dd082 | BBS2 | R413*/+ | BBS4 | P503L/+ | TD |
| dd083 | BBS2 | R643H/+ | BBS4 | K46R/+ | TD |
| dd204 | BBS1 | M390R/M390R | CCDC28B | splicing‡/+ | TD |
| dd084 | BBS1 | Y113*/M390R | CCDC28B | splicing‡/+ | CO |
| dd085 | BBS1 | E549*/M390R | CCDC28B | splicing‡/+ | CO |
| dd086 | BBS7 | G63R/+ | BBS4 | L114Wfs*28/+ | CO |