Disease Gene Features
You are here!
The table below lists some features of disease genes studied in the laboratories of Dr. Stone and Dr. Sheffield. Some features include gene size, genomic structure and the likelihood that a given segment will yield meaningful information. These features must be considered when developing a high-yield but affordable test. It is interesting to note the wide variation among different genes.
| Disorder | Gene | Exons | Amplimers for Exons Screened | |||||
|---|---|---|---|---|---|---|---|---|
| C. | N.C. | SCR. | T | N | S | A | ||
| Achromatopsia | ACHM2 | 7 | 0 | 7 | 15 | 2 | 9 | 4 |
| ACHM3 | 18 | 3 | 15 | 16 | 0 | 2 | 14 | |
| Aniridia | PAX6 | 13 | 0 | 13 | 14 | 0 | 0 | 14 |
| Bardet-Biedl | BBS1 | 17 | 0 | 17 | 17 | 0 | 0 | 17 |
| BBS2 | 17 | 0 | 17 | 16 | 0 | 0 | 16 | |
| BBS4 | 16 | 0 | 16 | 16 | 0 | 0 | 16 | |
| BBS6 | 4 | 2 | 4 | 4 | 0 | 0 | 4 | |
| BBS7 | 18 | 0 | 18 | 18 | 0 | 0 | 18 | |
| Best Disease | VMD2 | 10 | 1 | 10 | 12 | 0 | 4 | 8 |
| Choroideremia | CHM | 15 | 0 | 15 | 17 | 1 | - | - |
| Cone-Rod Dystrophy | CRX | 3 | 0 | 3 | 7 | 0 | 0 | 7 |
| ABCA4 | 51 | 0 | 51 | 51 | 0 | 17 | 34 | |
| Corneal Dystrophy-Stromal | BigH3 | 17 | 0 | 2 | 2 | 0 | 0 | 2 |
| Dominant Optic Atrophy | OPA1 | 28 | 1 | 28 | 28 | 1 | 1 | 26 |
| Enhanced S-Cone Syndrome | NR2E3 | 8 | 0 | 8 | 9 | 1 | 3 | 4 |
| Juvenile Open Angle Glaucoma | GLC1A/Myocilin/TIGR | 3 | 0 | 1 | 4 | 0 | 1 | 3 |
| Leber Congenital Amaurosis | AIPL1 | 6 | 0 | 6 | 9 | 0 | 2 | 7 |
| CRB1 | 12 | 0 | 12 | 27 | 0 | 2 | 23 | |
| CRX | 3 | 0 | 3 | 7 | 0 | 0 | 7 | |
| GUCY2D | 19 | 1 | 19 | 22 | 0 | 2 | 20 | |
| RPE65 | 14 | 0 | 14 | 14 | 0 | 0 | 14 | |
| RPGrip | 23 | 1 | 24 | 32 | 1 | 10 | 21 | |
| Leber Hereditary Optic Neuropathy | Mito 3460 | 1 | 0 | 1 | 1 | 0 | 0 | 1 |
| Mito 11778 | 1 | 0 | 1 | 1 | 0 | 0 | 1 | |
| Mito 14484 | 1 | 0 | 1 | 1 | 0 | 0 | 1 | |
| Malattia Leventinese | EFEMP1 | 12 | 2 | 1 | 1 | 0 | 0 | 1 |
| Norrie Disease | NDP | 2 | 1 | 2 | 4 | 1 | 0 | 3 |
| Pattern Dystrophy | RDS | 3 | 0 | 3 | 7 | 0 | 1 | 6 |
| Primary Open Angle Glaucoma | GLC1A/Myocilin/TIGR | 3 | 0 | 1 | 4 | 0 | 1 | 3 |
| Retinitis Pigmentosa (A.D.) | RDS | 3 | 0 | 3 | 7 | 0 | 1 | 6 |
| RHO | 5 | 0 | 5 | 9 | 0 | 0 | 9 | |
| RP1 | 3 | 1 | 1 | 1 | 0 | 0 | 1 | |
| Sorsby Dystrophy | TIMP3 | 5 | 0 | 4 | 5 | 1 | 4 | 0 |
| Stargardt (A.D.) | ELOVL4 | 6 | 0 | 6 | 6 | 1 | 0 | 5 |
| Stargardt (A.R.) | ABCA4 | 51 | 0 | 51 | 51 | 0 | 17 | 34 |
| Von Hippel Lindau | VHL | 3 | 0 | 3 | 5 | 1 | 2 | 2 |
| X-Linked Retinoschisis | RS1 | 6 | 0 | 6 | 6 | 0 | 0 | 6 |
C = coding exons
NC = noncoding exons
SCR = exons screened by our lab
T = total amplimers for coding regions (~200-300bp in size each)
N = amplimers that never PCR'd
S = amplimers that sometimes PCR'd
A = amplimers that always PCR'd
A.D. = autosomal dominant
A.R. = autosomal recessive