Table 2. Cases with a single heterozygous (likely) causative variant in a gene causing recessive disease.
| Detected variant(s) | ||||||
|---|---|---|---|---|---|---|
| UID | Eye phenotype | Gene | Transcript ID | Allele | Result additional genetic test(s) | |
| 7762 | Stargardt disease | ABCA4 | NM_000350.2 | c.1822T>A | p.(Phe608Ile)a | Deep-intronic variant c.5196+1137G>A detected |
| 4459 | Stargardt disease | ABCA4 | NM_000350.2 | c.3113C>T | p.(Ala1038Val)a | Deep-intronic variant c.4539+2001G>A detected |
| 4913 | Retinitis pigmentosa | ABCA4 | NM_000350.2 | c.3113C>T | p.(Ala1038Val)a | No second variant |
| 0732 | Retinitis pigmentosa | ABCA4 | NM_000350.2 | c.4771G>A | p.(Gly1591Arg)a | No second variant |
| 4795Z | Cone dystrophy | ABCA4 | NM_000350.2 | c.5056G>A | p.(Val1686Met)a | No second variant |
| 4182 | Stargardt disease | ABCA4 | NM_000350.2 | c.5584+6T>C | r.(spl?)a | Deep-intronic variant c.4539+2001G>A detected |
| 2851 | Cone–rod dystrophy | ABCA4 | NM_000350.2 | c.5882G>A | p.(Gly1961Glu)a | ND |
| 4261 | Macular dystrophy | ABCA4 | NM_000350.2 | c.6148G>C | p.(Val2050Leu)a | No second variant |
| 0889 | Stargardt disease | ABCA4 | NM_000350.2 | c.634C>T | p.(Arg212Cys)a | Deep-intronic variant c.4539+2001G>A detected |
| 3013 | Retinitis pigmentosa | ALMS1 | NM_015120.4 | c.6571_6574del | p.(Ser2191fs) | ND |
| USH2A | NM_206933.2 | c.11815G>A | p.(Glu3939Lys)a | ND | ||
| 3988 | Leber congenital amaurosis | BBS1 | NM_024649.4 | c.1131_1135del | p.(Cys377fs)a | No second variant |
| 5017 | Retinitis pigmentosa | BBS5 | NM_152384.2 | c.551A>G | p.(Asn184Ser)a | No second variant |
| 3366 | Retinitis pigmentosa | C2ORF71 | NM_001029883.1 | c.530C>T | p.(Pro177Leu) | No second variant |
| CNGB1 | NM_001297.4 | c.2360A>G | p.(Tyr787Cys) | No second variant | ||
| 3803 | Leber congenital amaurosis | CEP290 RPE65 | NM_025114.3 NM_000329.2 | c.1079G>A c.676G>A | p.(Arg360Gln) p.(Val226Ile) | No second variant No second variant |
| 5502 | Leber congenital amaurosis | CEP290 | NM_025114.3 | c.4960C>T | p.(Gln1654*) | Deep-intronic variant c.2991+1655A>G detected |
| 8389 | Retinitis pigmentosa | CEP290 | NM_025114.3 | c.5649dup | p.(Leu1884fs)a | Deep-intronic variant c.2991+1655A>G detected |
| 6858 | Retinal dystrophy | CEP290 | NM_025114.3 | c.6547C>T | p.(His2183Tyr) | No second variant |
| 8120 | Macular dystrophy | CNGA3 | NM_001298.2 | c.1618G>A | p.(Val540Ile)a | ND |
| CDHR1 | NM_033100.2 | c.783G>A | r.(spl?)a | ND | ||
| 0308 | Retinitis pigmentosa | EYS | NM_001142800.1 | c.1161del | p.(Lys387fs) | Copy number variant c.(2137+1_2138-1)_(2259+1_2260-1)dup detected |
| 2400 | Retinitis pigmentosa | EYS | NM_001142800.1 | c.5167_5168del | p.(Leu1723fs) | Copy number variant c.(6424+1_6425-1)_(6571+1_6572-1)del detected |
| 3982 | Retinitis pigmentosa | EYS | NM_001142800.1 | c.5167_5168del | p.(Leu1723fs) | Copy number variant c.(3243+1_3244-1)_(3443+1_3444-1)dup detected |
| 1073 | Cone dystrophy | KCNV2 | NM_133497.3 | c.820G>A | p.(Val274Met) | No second variant |
| 5428 | Retinal dystrophy | LEPREL1 | NM_018192.3 | c.1906C>T | p.(Pro636Ser) | No second variant |
| 3854 | Cone–rod dystrophy | MAK | NM_001242957 | c.941C>T | p.(Pro314Leu) | ND |
| 5615 | Cone dystrophy | MFRP | NM_031433.3 | c.855T>A | p.(Cys285*) | No second variant |
| 2666 | Developmental eye defect | MKS1 | NM_017777.3 | c.857A>G | p.(Asp286Gly)a | No second variant |
| 4368 | Macular dystrophy | NMNAT1 | NM_022787.3 | c.769G>A | p.(Glu257Lys)a | No second variant |
| 9731 | Cone–rod dystrophy | NR2E3 | NM_014249.2 | c.724_725del | p.(Ser242fs) | Second variant c.119-2A>C detected |
| 4795B | Retinal dystrophy | OCA2 | NM_000275.2 | c.1025A>G | p.(Tyr342Cys)a | ND |
| 0235 | Retinitis pigmentosa | PDE6B | NM_000283.3 | c.(?_-53)_(*785_?)del | p.0 | No second variant |
| 6317 | Retinitis pigmentosa | PDE6B | NM_000283.3 | c.1210A>G | p.(Arg404Gly) | ND |
| 6488 | Retinitis pigmentosa | PDE6B | NM_000283.3 | c.2193+1G>A | r.(spl?)a | Copy number variant c.1923_1971delinsTCTGGGTA detected |
| 8843 | Retinitis pigmentosa | PDE6B | NM_000283.3 | c.2503+5G>C | r.(spl?)a | ND |
| 7248 | Cone dystrophy | RLBP1 | NM_000326.4 | c.454G>A | p.(Asp152Asn) | ND |
| 8369 | Retinitis pigmentosa | RP1 | NM_006269.1 | c.2005G>A | p.(Ala669Thr)a | ND |
| 2438 | Retinitis pigmentosa | RP1 | NM_006269.1 | c.368_369dup | p.(Pro124fs)a | No second variant |
| 4698 | Retinitis pigmentosa | RP1 | NM_006269.1 | c.368_369dup | p.(Pro124fs)a | ND |
| 9807 | Retinitis pigmentosa | RP1 | NM_006269.1 | c.4961C>T | p.(Ser1654Phe) | ND |
| MAK | NM_005906.4 | c.383C>A | p.(Pro128Gln) | ND | ||
| 0459 | Retinitis pigmentosa | RP1L1 | NM_178857.5 | c.1153C>T | p.(Arg385Trp) | ND |
| 9088 | Retinitis pigmentosa | USH1G | NM_173477.4 | c.83C>T | p.(Pro28Leu) | No second variant |
| 1428 | Retinitis pigmentosa | USH2A | NM_206933.2 | c.10510C>G | p.(Pro3504Ala)a | No second variant |
| 2681 | Retinitis pigmentosa | USH2A | NM_206933.2 | c.12823T>A | p.(Ser4275Thr) | ND |
| 0731 | Cone–rod dystrophy | USH2A | NM_206933.2 | c.15427C>T | p.(Arg5143Cys)a | ND |
| 8964 | Retinitis pigmentosa | USH2A | NM_206933.2 | c.1582G>A | p.(Asp528Asn) | No second variant |
| 8481 | Retinitis pigmentosa | USH2A | NM_206933.2 | c.5516T>A | p.(Val1839Glu) | No second variant |
| CDH23 | NM_022124.5 | c.5563C>T | p.(Pro1855Ser) | No second variant | ||
| 9593 | Retinitis pigmentosa | USH2A | NM_206933.2 | c.5698T>G | p.(Cys1900Gly) | No second variant |
Abbreviation: ND, not determined.
a
Variant already described to cause an inherited eye disorder.