Table 1 of
van Huet, Mol Vis 2015; 21:461-476. Table 1 of
van Huet, Mol Vis 2015; 21:461-476.
Table 1. Overview of the genes analyzed by the latest APEX microarray chip for autosomal recessive retinitis pigmentosa (version 6.0).
| Gene symbol | Full gene name | Number of mutations included in chip |
|---|---|---|
| ABCA4 | ATP-binding cassette, sub-family A (ABC1), member 4 | 1 |
| AIPL1 | Aryl hydrocarbon receptor interacting protein-like 1 | 1 |
| CERKL | Ceramide kinase-like | 5 |
| CNGA1 | Cyclic nucleotide gated channel alpha 1 | 5 |
| CNGA3 | Cyclic nucleotide gated channel alpha 3 | 1 |
| CNGB1 | Cyclic nucleotide gated channel beta 1 | 3 |
| CNGB3 | Cyclic nucleotide gated channel beta 3 | 1 |
| CRB1 | Crumbs homolog 1 | 114 |
| EYS | Eyes shut homolog | 68 |
| GRK1 | G protein-coupled receptor kinase 1 | 1 |
| IMPG2 | Interphotoreceptor matrix proteoglycan 2 | 6 |
| LRAT | Lecithin retinol acyltransferase (phosphatidyl-choline-retinol O-acyltransferase) | 3 |
| MERTK | C-mer proto-oncogene tyrosine kinase | 14 |
| PDE6A | Phosphodiesterase 6A, cGMP-specific, rod, alpha | 22 |
| PDE6B | Phosphodiesterase 6B, cGMP-specific, rod, beta | 28 |
| NR2E3 | Nuclear receptor subfamily 2, group E, member 3 | 31 |
| PROM1 | Prominin 1 | 2 |
| RBP3 | Retinol binding protein 3, interstitial | 1 |
| RDH12 | Retinol dehydrogenase 12 (all-trans/9-cis/11-cis) | 45 |
| RGR | Retinal G protein coupled receptor | 7 |
| RHO | Rhodopsin | 2 |
| RLBP1 | Retinaldehyde binding protein 1 | 13 |
| RP1 | Retinitis pigmentosa 1 | 3 |
| RPE65 | Retinal pigment epithelium-specific protein 65 kDa | 100 |
| SAG | S-antigen; retina and pineal gland (arrestin) | 4 |
| TULP1 | Tubby like protein 1 | 25 |
| CLRN1 | Clarin 1 | 12 |
| USH2A | Usher syndrome 2A | 192 |
| Total: 28 | Total: 710 |