Autosomal Dominant Retinitis Pigmentosa

Gene Symbol Aliases Full Gene
Name
Chr Disorder Mode of Inheritance OMIM HGNC ID
CA4 CAIV; Car4; RP17 carbonic anhydrase IV 17q23 AD RP autosomal dominant 114760 HGNC:1375
FSCN2 RFSN; RP30 fascin homolog 2, actin-bundling protein, retinal (Strongylocent-
rotus purpuratus)
17q25 AD RP autosomal dominant 607643 HGNC:3960
IMPDH1 DKFZp781N0678; IMPD; IMPD1; LCA11; RP10; sWSS2608 IMP (inosine monophosphate) dehydrogenase 1 7q31.3-
q32
AD RP autosomal dominant 146690 HGNC:6052
NRL D14S46E; NRL-MAF; RP27 neural retina leucine zipper 14q11.1-
q11.2
AD RP autosomal dominant 162080 HGNC:8002
PRPF3 HPRP3; HPRP3P; PRP3; Prp3p; RP18 PRP3 pre-mRNA processing factor 3 homolog 1q21.1 AD RP autosomal dominant 607301 HGNC:17348
PRPF31 DKFZp566J153; NY-BR-99; PRP31; RP11 PRP31 pre-mRNA processing
factor 31 homolog
19q13.42 AD RP autosomal dominant 606419 HGNC:15446
PRPF8 HPRP8; PRP8; PRPC8; RP13 PRP8 pre-mRNA processing
factor 8 homolog
17p13.3 AD RP autosomal dominant 607300 HGNC:17340
PRPH2 AOFMD; AVMD; PRPH; RP7; TSPAN22; rd2; RDS peripherin 2 (retinal degeneration,
slow)
6p21.2-
p12.3
AD RP autosomal dominant 179605 HGNC:9942
RHO CSNBAD1; MGC138309; MGC138311; OPN2; RP4 rhodopsin 3q21-q24 AD RP autosomal dominant 180380 HGNC:10012
ROM1 ROM; ROSP1; RP7; TSPAN23 retinal outer segment
membrane
protein 1
11q13 AD RP autosomal dominant 180721 HGNC:10254
RP1 DCDC4A; FLJ50293; FLJ55454; FLJ79410; ORP1 retinitis
pigmentosa 1
8q12.1 AD RP autosomal dominant 603937 HGNC:10263
RP9 PAP-1 retinitis
pigmentosa 9
7p14.3 AD RP autosomal dominant 607331 HGNC:10288
CRX CORD2; CRD; LCA7; OTX3 cone-rod
homeobox
19q13.3 AD RP autosomal dominant 602225 HGNC:2383
TOPORS RP11-205M20.5; LUN; P53BP3; RP31; TP53BPL topoisomerase I binding, arginine/
serine-rich
9p21 AD RP autosomal dominant 609507 HGNC:21653
NR2E3 ESCS; MGC49976; PNR; RNR; RP37; rd7 nuclear receptor subfamily 2,
group E,
member 3
15q22.32 AD RP autosomal dominant 604485 HGNC:7974
KLHL7 RP42; KLHL6; SBBI26 kelch-like 6, kelch-like 7, kelch/BTB,
retinitis
pigmentosa 42
7p15.3 AD RP autosomal dominant 611119 HGNC:15646

AD RP – autosomal dominant retinitis pigmentosa

Asper Ophthalmics
Asper Oncogenetics
Asper Reprogenetics