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Table 1 General situation of families with pathogenic or likely pathogenic mutations

From: Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology

Fa Np Gene Transcript RefSeq Ex NA Changes AA changes Hzyo Pf Reported Gm Disease SPM ACMG grade
14 2 RHO NM_000539 1 c.251 T > C p.L84P Het Novel AD RP, 4  +  +  +  PS4 + PM1 + PM2 + PP1 + PP3
15 4 RHO NM_000539 2 c.403C > T p.R135W Het 0/ 1.082e−5 Yes[36] AD RP, 4  +  +  +  PS1 + PM1 + PP1 + PP3
48 1 RHO NM_000539 3 c.541G > A p.E181K Het Yes[37] AD RP, 4  +  +  +  PS2 + PM2 + PP3
54 2 RHO NM_000539 2 c.403C > T p.R135W Het 0/ 1.082e−5 Yes[38] AD RP, 4  +  +  +  PS1 + PM1 + PP1 + PP3
18 3 NDP NM_000266 2 c.124C > A p.H42N Hemi Novel XL FEVR2[39]  +  +  +  PM2 + PM5 + PP1 + PP3
32 1 NDP NM_000266 3 c.343C > T p.R115X Hemi Yes[40] XLR Norrie  +  +  +  PVS1 + PS1 + PM2 + PP3
46 1 NDP NM_000266 3 c.401_402delGA p.*134Wfs*13 Hemi Novel XL FEVR2 / / / PVS1 + PS2 + PM2
55 3 NDP NM_000266 3 c.268C > T p.R90C Hemi Yes[41] XLR Norrie  +  +  +  PS1 + PM2 + PP1 + PP3
7 1 USH2A NM_206933 2 c.99_100insT p.R34Sfs*41 Hom 6.242 e−5/ 3.231e−5 Yes[42] AR Usher 2A / / / PVS1 + PS1 + PM2
9 1 USH2A NM_206933 55 c.10859 T > C p.I3620T Het 1.16e−4/ 1.219e−5 Yes[43] AR Usher 2A/RP, 39  +  +  +  PS1 + PM2 + PM3 + PP3
USH2A NM_206933 13 c.2802 T > G p.C934W Het 2.441e−3/1.915e−4 Yes[44] AR Usher 2A/RP, 39  +  +  +  PS1 + PM2 + PM3 + PP3
47 1 USH2A NM_206933 63 c.13596dupC p.S4533Lfs*28 Het Novel AR Usher 2A / / / PVS1 + PM2 + PM3
USH2A NM_206933 56 c.10962C > A p.Y3654X Het Novel AR Usher 2A  +  +  +  PVS1 + PM2 + PM3 + PP3
27 1 RS1 NM_000330 6 c.598C > T p.R200C Hemi Yes[45] XLR Retinoschisis  +  +  +  PS1 + PM2 + PP3
38 1 RS1 NM_000330 4 c.214G > A p.E72K Hemi 0/ 1.678e−5 Yes[45] XLR Retinoschisis  +  +  +  PS1 + PM2 + PP3
51 2 RS1 NM_000330 4 c.206_207delTG p.Leu69Argfs*16 Hemi Yes[46] XLR Retinoschisis / / / PVS1 + PS1 + PM2 + PP1
1 1 MERTK NM_006343 8 c.1186G > T p.E396X Het Yes[47] AR RP,38 / / +  PVS1 + PS1 + PM2
MERTK NM_006343 3 c.518A > G p.Y173C Het 0/ 1.219e−5 Novel AR RP,38  +  +  +  PM2 + PM3 + PP3 + PP4
2 2 MERTK NM_006343 4 c.754delC p.P252Qfs*3 Hom Novel AR RP,38 / / / PVS1 + PM2 + PP1
Fa Np Gene Transcript ErfSeq Ex NA Changes AA changes Hzyo Pf Reported Gm Disease SPM ACMG grade
3 1 CYP4V2 NM_207352 7 c.(802–8)_810delTCATACAGGTCATCGCTinsGC ?p.268_270del/ Splicing Hom 7.963e−4/ 6.856e−5 Yes[48] AR Bietti CCD / / / PVS1 + PS1 + PM2
4 2 CYP4V2 NM_207352 7 c.(802–8)_810delTCATACAGGTCATCGCTinsGC ?p.268_270del/ Splicing Het 7.963e−4/ 6.856e−5 Yes[48] AR Bietti CCD / / / PVS1 + PS1 + PM2 + PM3 + PP1
CYP4V2 NM_207352 7 c.958C > T p.R320X Het 0/ 4.061e−6 Yes[49] AR Bietti CCD / / +  PVS1 + PS1 + PM2 + PM3 + PP1
5 4 FSCN2 NM_001077182 1 c.72delG p.T25Qfs*120 Het 0.01238/ 8.801e−4 Yes AD RP, 30 / / / PVS1 + PS1 + PP1
6 2 FSCN2 NM_001077182 1 c.72delG p.T25Qfs*120 Het 0.01238/ 8.801e−4 Yes[50] AD RP, 30 / / / PVS1 + PS1 + PP1
12 4 PRPF31 NM_015629 11 c.(1074–8)_1079delGTCCCCAGGTACCG ?p.358_360delRYRinsS/ Splicing Het Novel AD RP, 11 / / / PVS1 + PM2 + PP1
50 2 PRPF31 NM_015629 12 c.1215delG p.Val406fs*7 Het Yes[51] AD RP, 11 / / / PVS1 + PS1 + PM2 + PP1
33 1 RPGR NM_001034853 15 c.2236_2237delGA p.E746Rfs*23 Hemi Yes XLR MD / / / PVS1 + PS1 + PM2
52 2 RPGR NM_001034853 15 c.2236_2237delGA p.E746Rfs*23 Hemi Yes[52] XLR MD / / / PVS1 + PS1 + PM2 + PP1
43 5 RP2 NM_006915 3 c.769–2A > G splicing Hemi Yes[53] XL RP, 2 / / +  PVS1 + PS1 + PM2 + PP1
44 4 RP2 NM_006915 2 c.572_582dup11 p.Pro190Profs*52 Hemi Novel XL RP, 2 / / / PVS1 + PM2 + PP1
36 1 ABCA4 NM_000350 29 c.4352 + 1G > A splicing Het 0/ 8.123e−6 Yes[54] AR Stargardt 1 / / +  PVS1 + PS1 + PM2 + PM3
ABCA4 NM_000350 13 c.1804C > T p.R602W Het 2.904e−4/ 4.477e−5 Yes[55] AR Stargardt 1  +  +  +  PS1 + PM2 + PM3 + PP3
11 1 TULP1 NM_003322 13 c.1318C > T p.R440X Het 0/ 1.145e−5 Yes[56] AR LCA 15 / / +  PVS1 + PS1 + PM2
TULP1 NM_003322 12 c.1142 T > G p.V381G Het Novel AR LCA 15  +  +  +  PM2 + PM3 + PP3 + PP4
16 1 CHM NM_000390 5 c.544delT p.C182Vfs*14 Hemi Novel XLD choroideremia / / / PVS1 + PM2
28 1 RPGRIP1 NM_020366 16 c.2662C > T p.R888X Hom 0/ 1.68e−5 Yes[57] AR LCA6  +  +  +  PVS1 + PS1 + PM2 + PP3
Fa Np Gene Transcript RefSeq Ex NA Changes AA changes Hzyo Pf Reported Gm Disease SPM ACMG grade
17 2 PRPF8 NM_006445 36 c.5792C > T p.T1931M Het Novel AD RP, 13  +  +  +  PM2 + PP1 + PP2 + PP3 + PP4
20 1 TRPM1 NM_0012 52,020 21 c.2789 T > A p.I930N Het Novel AR CSNB1C  +  +  +  PM2 + PM3 + PP2 + PP3
TRPM1 NM_0012 52,020 22 c.3178 + 1G > A splicing Het 6.889e−4/ 5.772e−5 Yes[58] AR CSNB1C / / +  PVS1 + PS1 + PM2
21 1 NR2E3 NM_014249 6 c.925C > T p.R309W Hom 0/ 8.34e−6 Novel AR GF / + / PM2 + PM5 + PP2 + PP4
22 1 PAX2 NM_003990 2 c.70dupG p.V26Gfs*28 Het 0/ 1.237e−5 Yes[59] AD RCS / / / PVS1 + PS1
34 2 KCNV2 NM_133497 1 c.506_513delTGCTGCT p.V169Gfs*40 Het Novel AR RCD3B / / / PVS1 + PM2 + PM3 + PP1
KCNV2 NM_133497 1 c.137G > A p.W46X Het Yes[60] AR RCD3B  +  +  +  PVS1 + PS1 + PM2 + PP1 + PP3
35 2 FZD4 NM_206933 2 c.612 T > A p.C204X Het Novel AD FEVR1  +  +  +  PVS1 + PM2 + PP1 + PP3
37 2 LRP5 NM_002335 2 c.485_488delACGG p.H162Rfs*38 Het Novel AD FEVR4 / / / PVS1 + PM2 + PP1
39 1 SLC38A8 NM_001080442 7 c.927_928delCT p.Y310Pfs*57 Het Novel AR FH2 / / / PVS1 + PM2 + PM3
SLC38A8 NM_001080442 6 c.697G > A p.E233K Het 2.778e−4/ 6.886e−5 Yes[61] AR FH2  +  +  +  PS1 + PM2 + PP3
40 1 AIPL1 NM_001285399 3 c.385C > T p.Q129X Hom Novel AR LCA4  +  +  +  PVS1 + PM2 + PP3
41 1 FRMD7 NM_194277 10 c.910C > T p.R304X Hemi 0/ 5.608e−6 Yes[62] XLR Nystagmus 1  +  +  +  PVS1 + PS1 + PM2 + PP3
42 1 GUCY2D NM_000180 18 c.3177_3178delAC p.R1060Rfs*11 Hom 0/ 4.935e−6 Novel AR LCA4 / / / PVS1 + PM2
45 1 CNGA1 NM_001142564 5 c.472delC p.L158Ffs*4 Het 0.0012/ 6.455e−5 Novel[63] AR RP, 49 / / / PVS1 + PM2
CNGA1 NM_001142564 5 c.453C > A p.Y151X Het 5.798e−5/ 4.068e−6 Novel AR RP, 49  +  +  +  PVS1 + PM2 + PP3
49 3 TSPAN12 NM_012338 8 c.731delT p.L244Rfs*17 Het 0/ 4.064e−6 Novel AD EV5 / / / PVS1 + PM2 + PP1
  1. Fa denotes Family No.; Np denotes the number of patients; Ex denotes an exon; NA denotes nucleic acid; AA denotes amino acid; Hzyo denotes heterozygosity; Pf denotes the population frequency recorded in the gnomAD database; Gm denotes the genetic model; Disease denotes OMIM disease; SPM denotes SIFT, PolyPhen_2 and Mutation t@sting predicting, ‘ + ’denotes damaging, ‘-’denotes benign, and ‘/’ denotes no data. RP,4 denotes retinitis pigmentosa, type 4; FEVR2 denotes familial exudative vitreoretinopathy, type 2; Usher 2A denotes Usher syndrome, type 2A; RP,39 denotes retinitis pigmentosa, type 39; RP,38 denotes retinitis pigmentosa, type 38; Bietti CCD denotes Bietti crystalline corneoretinal dystrophy; RP, 30 denotes retinitis pigmentosa, type 30; RP, 11 denotes retinitis pigmentosa, type 11; MD denotes macular degeneration, X-linked atrophic; RP,2 denotes retinitis pigmentosa, type 2; Stargardt 1 denotes Stargardt's disease, type1; LCA 15 denotes Leber congenital amaurosis, type 15; LCA6 denotes Leber congenital amaurosis, type 6; RP,13 denotes retinitis pigmentosa, type 13; CSNB1C denotes congenital stationary night blindness, type 1C; GF denotes Goldmann-Favre syndrome; RCS denotes renal coloboma syndrome; RCD3B denotes retinal cone dystrophy, type 3B; FEVR1 denotes familial exudative vitreoretinopathy, type 1; FEVR4 denotes familial exudative vitreoretinopathy, type 4; FH2 denotes foveal hypoplasia, type 2; LCA4 denotes Leber congenital amaurosis, type 4; Nystagmus 1 denotes nystagmus, type 1, congenital, X-linked; RP, 49 denotes retinitis pigmentosa, type 49; EV 5 denotes exudative vitreoretinopathy, type 5