Retinitis Pigmentosa 78; Rp78

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Retinitis Pigmentosa 78; Rp78

ARHGEF18

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Retinitis Pigmentosa 78; Rp78

Rod-cone dystrophy
Reduced visual acuity
Pallor
Nyctalopia
Retinal degeneration
Optic disc pallor
Visual field defect
Cystoid macular edema
Photopsia

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Retinitis Pigmentosa 78; Rp78 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ARHGEF18. By Institute for Human Genetics University Clinic Freiburg (Germany). ARHGEF18 Specificity 100 % Genes 100 %
ARHGEF18. By Fulgent Genetics Fulgent Genetics (United States). ARHGEF18 Specificity 100 % Genes 100 %
Retinal Dystrophy Panel. By Blueprint Genetics (Finland). RGS9, RHO, RLBP1, ROM1, RP1, RP2, RPE65, RPGR, RS1, CNNM4, SAG, CWC27, SDCCAG8, SEMA4A, SLC24A1, SPP2, TEAD1, ACO2, TIMM8A, TIMP3 , (...) View the complete list with 239 more genes Panel complete gene list RGS9, RHO, RLBP1, ROM1, RP1, RP2, RPE65, RPGR, RS1, CNNM4, SAG, CWC27, SDCCAG8, SEMA4A, SLC24A1, SPP2, TEAD1, ACO2, TIMM8A, TIMP3, TREX1, CEP41, TTPA, TUB, TULP1, USH1C, CFAP410, USH2A, CLRN1, BEST1, WFS1, ARL6, RPGRIP1, CDH23, CA4, CABP4, ATOH7, CACNA1F, PRDM13, IFT81, C1QTNF5, ELOVL4, TMEM237, CDHR1, PCDH15, CAPN5, PRPF31, KLHL7, PRPF6, KIZ, ABHD12, PANK2, RP1L1, PNPLA6, USH1G, WHRN, TRIM32, ZNF423, MFN2, ARHGEF18, ADAMTS18, ARL2BP, DHX38, RIMS1, PRPF8, PRPF3, PRPF4, ADGRV1, CDH3, INVS, NMNAT1, RDH11, MFRP, RAX2, WDR19, IMPG2, RTN4IP1, BBS7, NPHP4, CHM, RD3, KCNV2, KIAA0586, TTLL5, RDH12, ZNF408, TTC8, CACNA2D4, SPATA7, DHDDS, ARMC9, CLN3, PITPNM3, INPP5E, CNGA1, CNGA3, CNGB1, CNGB3, EYS, AHI1, ADAM9, TSPAN12, TOPORS, CERKL, VPS13B, COL11A1, COL18A1, COL9A1, COL9A2, COL9A3, PEX26, GNPTG, CYP4V2, CRB1, CRX, ADIPOR1, B9D1, CISD2, TCTN3, MMACHC, CIB2, VCAN, FLVCR1, LRIT3, CEP104, TMEM216, CTNNA1, CTNNB1, SLC25A46, TMEM126A, ARL13B, TTC21B, OFD1, CEP78, TCTN2, CPLANE1, FAM161A, TCTN1, AGBL5, CTC1, CSPP1, PDZD7, BBS10, ZNF513, HGSNAT, BBS12, TMEM138, C8orf37, WDPCP, BBIP1, TMEM107, TMEM67, MFSD8, B9D2, SAMD11, DRAM2, IQCB1, EMC1, CEP290, IFT140, RPGRIP1L, CEP164, CC2D2A, SLC7A14, BBS9, REEP6, RGS9BP, IFT172, KIF7, POC1B, SNRNP200, GPR179, LCA5, EFEMP1, PRCD, ABCA4, PCARE, AIPL1, TMEM231, DTHD1, FZD4, ALMS1, GNAT1, GNAT2, GNB3, GRM6, GUCA1A, GUCY2D, HARS, HK1, HMX1, IDH3B, IMPDH1, IMPG1, JAG1, KCNJ13, KIF11, LRAT, LRP2, LRP5, LZTFL1, MAK, MERTK, MKKS, MKS1, TRPM1, MTTP, MVK, MYO7A, NDP, NEK2, NPHP1, NPHP3, ATF6, NR2E3, NR2F1, NRL, FRMD7, NYX, OAT, OPA1, OPA3, OTX2, PAX2, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PHYH, PLA2G5, PRKCG, PROM1, PRPS1, BBS1, BBS2, BBS4, BBS5, PEX19, PEX2, PEX5, RAB28, RBP3, RBP4, RDH5, PRPH2, RGR Specificity 1 % Genes 100 %
Cone Rod Dystrophy Panel. By Blueprint Genetics (Finland). RGS9, RPGR, CNNM4, SEMA4A, CFAP410, BEST1, RPGRIP1, CABP4, CACNA1F, CDHR1, ARHGEF18, ADAMTS18, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, CLN3, PITPNM3, CNGA3 , (...) View the complete list with 22 more genes Panel complete gene list RGS9, RPGR, CNNM4, SEMA4A, CFAP410, BEST1, RPGRIP1, CABP4, CACNA1F, CDHR1, ARHGEF18, ADAMTS18, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, CLN3, PITPNM3, CNGA3, CNGB3, ADAM9, CERKL, CYP4V2, CRB1, CRX, CEP78, C8orf37, RGS9BP, POC1B, ABCA4, AIPL1, GNAT2, GUCA1A, GUCY2D, MERTK, PDE6C, PDE6H, PROM1, RAB28, RDH5, PRPH2 Specificity 3 % Genes 100 %
Retinitis Pigmentosa Panel. By Blueprint Genetics (Finland). RHO, RLBP1, ROM1, RP1, RP2, RPE65, RPGR, RS1, SAG, CWC27, SEMA4A, SPP2, TTPA, TUB, TULP1, USH1C, CFAP410, USH2A, CLRN1, BEST1 , (...) View the complete list with 90 more genes Panel complete gene list RHO, RLBP1, ROM1, RP1, RP2, RPE65, RPGR, RS1, SAG, CWC27, SEMA4A, SPP2, TTPA, TUB, TULP1, USH1C, CFAP410, USH2A, CLRN1, BEST1, ARL6, RPGRIP1, CA4, C1QTNF5, CDHR1, PRPF31, KLHL7, PRPF6, KIZ, ABHD12, ARHGEF18, ARL2BP, DHX38, RIMS1, PRPF8, PRPF3, PRPF4, NMNAT1, MFRP, WDR19, IMPG2, CHM, RDH12, ZNF408, TTC8, SPATA7, DHDDS, CLN3, PITPNM3, INPP5E, CNGA1, CNGB1, EYS, AHI1, TOPORS, CERKL, VPS13B, GNPTG, CYP4V2, CRB1, CRX, ADIPOR1, FLVCR1, CTNNA1, OFD1, FAM161A, AGBL5, ZNF513, HGSNAT, C8orf37, SAMD11, CEP290, IFT140, SLC7A14, REEP6, SNRNP200, LCA5, PRCD, ABCA4, PCARE, AIPL1, GUCY2D, HK1, IDH3B, IMPDH1, LRAT, MAK, MERTK, MVK, NEK2, NR2E3, NRL, OAT, PDE6A, PDE6B, PDE6G, PEX1, PEX7, PHYH, PLA2G5, PRKCG, PROM1, BBS1, BBS2, PEX2, RBP3, RBP4, RDH5, PRPH2, RGR Specificity 1 % Genes 100 %
RETINITIS PIGMENTOSA NGS PANEL. By Laboratorio de Genetica Clinica SL (Spain). RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, TULP1, USH2A, CLRN1, BEST1, ARL6, CA4, CDHR1, PRPF31, KLHL7, PRPF6 , (...) View the complete list with 51 more genes Panel complete gene list RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, TULP1, USH2A, CLRN1, BEST1, ARL6, CA4, CDHR1, PRPF31, KLHL7, PRPF6, ARHGEF18, PRPF8, PRPF3, PRPF4, MFRP, IMPG2, RDH12, ZNF408, TTC8, SPATA7, DHDDS, CNGA1, CNGB1, EYS, TOPORS, CERKL, GNPTG, CYP4V2, CRB1, CRX, FLVCR1, OFD1, FAM161A, AGBL5, ZNF513, HGSNAT, C8orf37, REEP6, SNRNP200, PRCD, ABCA4, PCARE, AIPL1, FSCN2, GUCA1B, IDH3B, IMPDH1, LRAT, MAK, MERTK, NEK2, NR2E3, NRL, PDE6A, PDE6G, PROM1, BBS1, BBS2, RBP3, PRPH2, RGR Specificity 2 % Genes 100 %

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Sources and references

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