Study ID | Gene | Zygosity | hg19 coordinates of implicated exons | Exons (n) | HGVS cDNA | Classification |
Deletions | ||||||
15010656 | TRPM1 | Het | chr15:31294020–31369129 | 26 | NM_002420.5: c.(?_−1)_(*1_?)del | Likely pathogenic |
14016924 | PDE6B | Het | chr4:6 19 411–6 63 901 | 22 | NM_000283.3: c.(?_−1)_(*1_?)del | Likely pathogenic |
15000307 | MERTK | Het | chr2:112702532–112786446 | 17 | NM_006343.2: c.(482+1_483–1)_(3000+1_3001–1)del | Likely pathogenic |
15010972* | PCDH15 | Het | chr10:55826512–56424027 | 19 | NM_001142763.1: c.(?_−1)_(2235+1_2236–1)del | Likely pathogenic |
15012122 | KIF11 | Het | chr10:94389928–94413558 | 11 | NM_004523.3: c.(1305+1_1306–1)_(*1_?)del | Likely pathogenic |
15006709* | MERTK | Het | chr2:112656308–112733054 | 7 | NM_006343.2: c.(?_−1)_(1144+1_1145–1)del | Likely pathogenic |
084929 | RPE65 | Het | chr1:68895454–68915593 | 14 | NM_000329.2: c.(?_−1)_(*1_?)del | Likely pathogenic |
15005941 | USH2A | Het | chr1:216405290–216465717 | 5 | NM_206933.2: c.(1644+1_1645–1)_(2993+1_2994–1)del | Likely pathogenic |
15005265 | EYS | Het | chr6:65612001–65655812 | 4 | NM_001142800.1: c.(2259+1_2260–1)_(2846+1_2847–1)del | Likely pathogenic |
14015843 | CRB1 | Het | chr1:197390125–197397136 | 2 | NM_201253.2: c.(1171+1_1172–1)_(2676+1_2677–1)del | Likely pathogenic |
13011434* | EYS | Hom | chr6:64708964–64709081 | 1 | NM_001142800.1: c.(6725+1_6726–1)_(6834+1_6835–1)del | Likely pathogenic |
15005668* | CERKL | Het | chr2:182468559–182521738 | 2 | NM_001030311.2: c.(?_−1)_(481+1_482–1)del | Likely pathogenic |
15010867* | CNGB3 | Het | chr8:87655974–87656919 | 2 | NM_019098.4: c.(990+1_991–1)_(1178+1_1179–1)del | Likely pathogenic |
15005008* | NMNAT1 | Het | chr1:10035645–10035838 | 1 | NM_001297778.1: c.(115+1_116–1)_(299+1_300–1)del | Likely pathogenic |
12008422* | USH2A | Het | chr1:216172225–216173909 | 2 | NM_206933.2: c.(6325+1_6326–1)_(6657+1_6658–1)del | Likely pathogenic |
14017566 | CERKL | Het | chr2:182521491–182521738 | 1 | NM_001030311.2: c.(?_−1)_(238+1_239–1)del | Likely pathogenic |
15001263* | USH2A | Het | chr1:216011328–216011450 | 1 | NM_206933.2: c.(9258+1_9259–1)_(9371+1_9372–1)del | Likely pathogenic |
15004859* | RPGRIP1 | Het | chr14:21798403–21798551 | 1 | NM_020366.3: c.(3099+1_3100–1)_(3238+1_3239–1)del | Likely pathogenic |
13001147 | EYS | Het | chr6:64791745–64791900 | 1 | NM_001142800.1: c.(6424+1_6425–1)_(6571+1_6572–1)del | Likely pathogenic |
13006640 | LRP5 | Het | chr11:68178900–68179093 | 1 | NM_002335.2: c.(2318+1_2319–1)_(2503+1_2504–1)del | Likely pathogenic |
14010419 | CNGB1 | Hom | chr16:57937722–57946903 | 4 | NM_001297.4: c.(2304+1_2305–1)_(2794+1_2795–1)del | Likely pathogenic |
12014502 | CNGB1 | Hom | chr16:57937722–57946903 | 4 | NM_001297.4: c.(2304+1_2305–1)_(2794+1_2795–1)del | Likely pathogenic |
14020104 | MAK | Hom | chr6:10819114–10819178 | 1 | NM_001242957.2: c.(101+1_102–1)_(156+1_157–1)del | Likely pathogenic |
15010966 | BBS2 | Het | chr16:56544766–56545201 | 2 | NM_031885.3: c.(345+1_346–1)_(534+1_535–1)del | Likely pathogenic |
14017272 | BBS4 | Het | chr15:73015130–73017001 | 2 | NM_033028.4:c.(405+1_406–1)_(587+1_588–1)del | Likely pathogenic |
14021329 | CDH3 | Het | chr16:68721410–68725834 | 2 | NM_001793.5:c.(1570+1_1571–1)_(2002+1_2003–1)del | Likely pathogenic |
15010313 | CLN3 | Het | chr16:28497663–28497976 | 2 | NM_001042432.1:c.(460+1_461–1)_(677+1_678–1)del | Likely pathogenic |
14016318 | GRM6 | Het | chr5:178413126–178413759 | 1 | NM_000843.3:c.(1500+1_1501)_(2124+1_2125–1)del | Likely pathogenic |
13009597† | IDH3B | Het | chr20:2639084–10394167 | 17 | NM_006899.4:c.(?_−1)_(*1_?)del | Likely pathogenic |
MKKS | NM_018848.3:c.(?_−1)_(*1_?)del | |||||
14009753 | NPHP1 | Het | chr2:110881363–110962550 | 20 | NM_000272.3:c.(?_−1)_(*1_?)del | Likely pathogenic |
13013491 | RGR | Het | chr10:86008662–86008804 | 1 | NM_002921.3:c.(236+1_237–1)_(370+1_371–1)del | Uncertain significance |
043844 | FSCN2 | Het | chr17:79502074–79502239 | 1 | NM_001077182.2:c.(826+1_827–1)_(983+1_984–1)del | Uncertain significance |
14020099 | RP1L1 | Het | chr8:10473951–10480716 | 2 | NM_178857.5:c.(?_−1)_(751+1_752–1)del | Uncertain significance |
Duplications | ||||||
10003406 | USH2A | Het | chr1:215914713–215933190 | 4 | NM_206933.2: c.(11048+1_11 049–1)_(11711+1_11 712–1)dup | Likely pathogenic |
13018538‡ | EYS | Hom | chr6:65016859–65016980 | 1 | NM_001142800.1: c.(6078+1_6079–1)_(6191+1_6192–1)dup | Likely pathogenic |
14001342 | EYS | Het | chr6:64694272–64709081 | 2 | NM_001142800.1: c.(6725+1_6726–1)_(7055+1_7056–1)dup | Uncertain significance |
14017670‡ | PRPF31 | Hom | chr19:54621654–54628040 | 7 | NM_015629.3: c.(?_−1)_(855+1_856–1)dup | Uncertain significance |
15007281 | BBS5 | Het | chr2:170336059–170361097 | 12 | NM_152384.2:c.(?_−1)_(*1_?)dup | Uncertain significance |
15009450† | RP9 BBS9 | Het | chr7:33134841–33185981 | 7 | NM_203288.1:c.(?_−1)_(*1_?)dup NM_198428.2:c.(?_−1)_(112+1_113–1_?)dup | Uncertain significance |
13009597† | ZNF513 C2orf71 EFEMP1 FAM161A | Het | chr2:27600408–62081181 | 23 | NM_144631.5:c.(?_−1)_(*1_?)dup NM_001029883.2:c.(?_−1)_(*1_?)dup NM_001039348.2:c.(?_−1)_(*1_?)dup NM_001201542.1: c.(?_−1)_(*1_?)dup | Uncertain significance |
14015751 | NPHP1 | Het | chr2:110881363–110962550 | 20 | NM_000272.3:c.(?_−1)_(*1_?)dup | Likely benign |
14018818 | NPHP1 | Het | chr2:110881363–110962550 | 20 | NM_000272.3:c.(?_−1)_(*1_?)dup | Likely benign |
15008560 | NPHP1 | Het | chr2:110881363–110962550 | 20 | NM_000272.3:c.(?_−1)_(*1_?)dup | Likely benign |
15010871 | CYP4V2 | Het | chr4:187112973–187131800 | 20 | NM_207352.3:c.(?_−1)_(*1_?)dup | Likely benign |
*CNV events reported previously in Ellingford et al,14 Ellingford et al 7 or Carss et al 18 through alternative techniques and analysis strategies.
†Four copies confirmed.
‡CNV event impacts multiple genes.
Het, heterozygous; hom, homozygous.