Table 2a.
Autosomal dominant or X‐linked causal alleles considered to very likely or possibly solve probands
| Patient ID | Submitted Phenotype | Presumed genotype | Gene | cDNA variant | Protein variant | ACMG Class | Proposed inheritance | Proposed phenotype |
|---|---|---|---|---|---|---|---|---|
| 070617 | STGD | Heterozgous | BEST1 | c.605G > A | p.(Arg202Gln) | 4 | AD | VMD |
| 070682* | RP | Heterozgous | BEST1 | c.1067G > T | p.(Glu424*) | 4 | AD | VMD |
| 070583* | STGD | Heterozgous | CRX | c.122G > C | p.(Arg41Pro) | 4 | AD | CD/CRD |
| 070657 | STGD | Heterozgous | CRX | c.122G >;C | p.(Arg41Pro) | 4 | AD | CD/CRD |
| 070567 | STGD | Heterozgous | CRX | c.660del | p.(Tyr221Thrfs*9) | 4 | AD | CD/CRD |
| 070520 | STGD | Heterozgous | GUCA1A | c.250C > T | p.(Leu84Phe) | 4 | AD | CD/CRD |
| 070924 | STGD | Heterozgous | GUCA1A | c.296A > G | p.(Tyr99Cys) | 5 | AD | CD/CRD |
| 070944 | STGD | Heterozgous | PROM1 | c.1117C > T | p.(Arg373Cys) | 5 | AD | CD/CRD |
| 070553 | STGD | Heterozgous | PRPH2 | c.469G > T | p.(Asp157Tyr) | 4 | AD | STGD |
| 070509 | STGD | Heterozgous | PRPH2 | c.605G > A | p.(Gly202Glu) | 5 | AD | STGD |
| 070594 | STGD | Heterozgous | ROM1 | c.320del | p.(Gly107Alafs*15) | 4 | AD | RP |
| 070604 | STGD | Heterozgous | ROM1 | c.339dup | p.(Leu114Alafs*18) | 4 | AD | RP |
| 070227* | STGD | Heterozgous | ROM1 | c.668G > A | p.(Arg223Gln) | 3 | AD | RP |
| 070716 | STGD | Heterozgous | RP1 | c.2953_2956del | p.(Asn985Tyrfs*27) | 5 | AD | RP |
| 070227* | STGD | Hemizygous | CACNA1F | c.3181G > C | p.(Val1061Leu) | 3 | XL | CD/CRD |
| 070649 | STGD | Hemizygous | RPGR | c.2980G > T | p.(Glu994*) | 4 | XL | MD/CD/CRD |
| 067268 | STGD | Hemizygous | RPGR | c.3163_3164del | p.(Asn1055Glnfs*23) | 4 | XL | MD |
| 067202 | STGD | Hemizygous | RPGR | c.3338del | p.(Gly1113Glufs*18) | 4 | XL | CD/CRD/MD |
Note: Probands with two possible genetic explanations for disease are highlighed with an asterisk (*).
Inheritance abbreviations: AD, autosomal dominant; AR, autosomal recessive; XL, X‐linked. Phenotype abbreviations: ACMG Class., American College of Medical Genetics Classification (class 3 = variant of uncertain significance, class 4 = likely pathogenic, class 5 = pathogenic); CD, cone dystrophy; CRD, cone‐rod dystrophy; MD, macular degeneration; RP, retinitis pigmentosa; STGD, Stargardt disease; STGD1, ABCA4‐associated Stargardt disease; VMD, vitelliform macular dystrophy.