Autosomal Recessive Retinitis Pigmentosa

Gene symbol Aliases Full Gene Name Chr Disorder Mode of inheritance OMIM HGNC ID
CERKL RP26 ceramide
kinase-like
2q31.3 AR RP autosomal recessive *608381 HGNC:21699
CNGA1 CNCG; CNG1; RP49; CNCG1; RCNC1; RCNCa; RCNCalpha cyclic nucleotide gated channel
alpha 1
4p12 AR RP autosomal recessive *123825 HGNC:2148
CNGB1 GAR1; GARP; RP45; CNCG2; RCNC2; RCNCb; CNCG3L; CNGB1B; RCNCbeta cyclic nucleotide gated channel
beta 1
16q13 AR RP autosomal recessive *600724 HGNC:2151
MERTK MER; RP38; c-mer; MGC133349 c-mer
proto-oncogene tyrosine kinase
2q14.1 AR RP autosomal recessive +604705 HGNC:7027
PDE6A PDEA; RP43; CGPR-A phosphodiesterase
6A, cGMP-specific, rod, alpha
5q31.2-q34 AR RP autosomal recessive *180071 HGNC:8785
PDE6B rd1; PDEB; RP40; CSNB3 phosphodiesterase
6B, cGMP-specific,
rod, beta
4p16.3 AR RP autosomal recessive +180072 HGNC:8786
PNR RNR; rd7; ESCS; RP37; MGC49976; NR2E3 nuclear receptor subfamily 2,
group E,
member 3
15q24 AR RP autosomal recessive *604485 HGNC:7974
RDH12 LCA3; LCA13; SDR7C2; FLJ30273 retinol
dehydrogenase 12 (all-trans/9-cis/
11-cis)
14q23.3 AR RP autosomal recessive *608830 HGNC:19977
RGR RP44 retinal G protein coupled receptor 10q23 AR RP autosomal recessive *600342 HGNC:9990
RLBP1 CRALBP; MGC3663 retinaldehyde
binding
protein 1
15q26.1 AR RP autosomal recessive *180090 HGNC:10024
SAG RP47; S-AG; DKFZp686D1084; DKFZp686I1383 S-antigen;
retina and pineal gland (arrestin)
2q37.1 AR RP autosomal recessive +181031 HGNC:10521
TULP1 RP14; TUBL1 tubby like
protein 1
6p21.3 AR RP autosomal recessive *602280 HGNC:12423
LRAT MGC33103 lecithin retinol acyltransferase (phosphatidyl-choline-retinol O-acyltransferase) 4q31.3 AR RP autosomal recessive +604863 HGNC:6685
CRB1 LCA8; RP12 crumbs
homolog 1
1q31-q32.1 AR RP autosomal recessive +604210 HGNC:2343
RPE65 LCA2; RP20; rd12; mRPE65; sRPE65 retinal pigment epithelium-specific protein 65kDa 1p31 AR RP autosomal recessive +180069 HGNC:10294
USH2A US2; RP39; USH2; dJ1111A8.1 Usher syndrome 2A (autosomal recessive, mild) 1q41 RP autosomal recessive +608400 HGNC:12601
USH3 USH3A; CLRN1 clarin 1 3q21-q25 RP autosomal recessive *606397 HGNC:12605
RBP3 IRBP; RBPI; D10S64;
D10S65;
D10S66
retinol binding protein 3, interstitial 10q11.2 RP autosomal recessive *180290 HGNC:9921
PROML1 RP41; AC133; CD133; MCDR2; STGD4;
CORD12; MSTP061;
PROM1
prominin 1 4p15 AR RP autosomal recessive *604365 HGNC:9454

AR RP – Autosomal Recessive Retinitis Pigmentosa
RP – Retinitis Pigmentosa

Asper Ophthalmics
Asper Oncogenetics
Asper Reprogenetics