Corneal Dystrophy, Posterior Polymorphous, 2; Ppcd2

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 Corneal Dystrophy, Posterior Polymorphous, 2; Ppcd2

COL8A2

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Corneal Dystrophy, Posterior Polymorphous, 2; Ppcd2

Corneal opacity
Corneal dystrophy

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.

Corneal Dystrophy, Posterior Polymorphous, 2; Ppcd2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
COL8A2. By Institute for Human Genetics University Clinic Freiburg (Germany). COL8A2 Specificity 100 % Genes 100 %
Glaucoma Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SLC4A4, ATOH7, OPTN, MFRP, COL4A1, COL8A1, COL8A2, CYP1B1, SH3PXD2B, WDR36, FOXC1, LMX1B, LTBP2, MYOC, OPTC, PAX6, PITX2 Specificity 6 % Genes 100 %
Corneal Dystrophies Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). TACSTD2, TCF4, ZEB1, TGFBI, VSX1, OVOL2, SLC4A11, COL8A2, CYP4V2, ZNF469, PIKFYVE, AGBL1, LOXHD1, DCN, CHRDL1, UBIAD1, FOXE3, GJA8, GSN, KERA , (...) View the complete list with 6 more genes Panel complete gene list TACSTD2, TCF4, ZEB1, TGFBI, VSX1, OVOL2, SLC4A11, COL8A2, CYP4V2, ZNF469, PIKFYVE, AGBL1, LOXHD1, DCN, CHRDL1, UBIAD1, FOXE3, GJA8, GSN, KERA, KRT12, KRT3, MAF, CHST6, PITX2, PRDM5 Specificity 4 % Genes 100 %
Eye Diseases - panels. By MGZ Medical Genetics Center (Germany). BFSP1, BFSP2, SALL2, BMP4, BMP7, SHH, SIX3, SIX6, FOXL2, SOX2, TACSTD2, ZEB1, TFAP2A, TGFBI, TGIF1, TREX1, TYR, TYRP1, VAX1, VIM , (...) View the complete list with 146 more genes Panel complete gene list BFSP1, BFSP2, SALL2, BMP4, BMP7, SHH, SIX3, SIX6, FOXL2, SOX2, TACSTD2, ZEB1, TFAP2A, TGFBI, TGIF1, TREX1, TYR, TYRP1, VAX1, VIM, VSX1, WFS1, ZIC2, ACTB, ADAMTS10, ATOH7, RAB18, ACTG1, FYCO1, PXDN, CBS, JAM3, OVOL2, TBC1D20, CHMP4B, SLC4A11, SLC45A2, MFN2, RAB3GAP1, ADAMTS17, RAB3GAP2, MFRP, RAX, GRIP1, FRAS1, P3H2, KIF21A, ADAMTSL4, VSX2, GPR143, B3GLCT, SMOC1, NDUFB11, SLC24A5, CHD7, TUBB3, BCOR, ADAMTS2, VPS13B, COL11A1, COL11A2, COL17A1, COL18A1, COL3A1, COL4A1, COL4A2, COL5A1, COL5A2, COL8A2, COL9A1, COL9A2, COL9A3, SLC16A12, CYP4V2, ZNF469, LRMDA, PIKFYVE, SIPA1L3, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, TMEM98, FAM126A, SIL1, VCAN, CTDP1, TMEM126A, FREM2, MTPAP, CYP1B1, CYP27A1, AGBL1, C12orf65, DCN, EPG5, C12orf57, TENM3, STRA6, UBIAD1, TUBB2B, TDRD7, MIR184, SLC38A8, TMEM114, EPHA2, ERCC1, ERCC2, ERCC5, ERCC6, EYA1, FBN1, FOXC1, FOXE3, PRSS56, FTL, FZD4, ALDH1A3, GALK1, GCNT2, GDF3, GDF6, GJA1, GJA3, GJA8, GLA, GSN, ABCB6, HCCS, HESX1, HMX1, HSF4, KRT3, LIM2, LRP2, LRP5, LTBP2, MAB21L2, MAF, PHOX2A, CHST6, MIP, ASPH, MYH9, MYOC, NDP, NHS, FRMD7, OCA2, OCRL, OPA1, OPA3, OTX2, PAX2, PAX6, PITX2, PRDM5, SLC33A1, RARB Specificity 1 % Genes 100 %
Corneal Dystrophy. By Asper Biogene Asper Biogene LLC (Estonia). SOD1, TACSTD2, TCF4, ZEB1, TGFBI, VSX1, SLC4A11, COL17A1, COL8A2, CYP4V2, ZNF469, PIKFYVE, LOXHD1, DCN, UBIAD1, GSN, KRT12, KRT3, CHST6, PRDM5 Specificity 5 % Genes 100 %
Eye diseases comprehensive panel. By Asper Biogene Asper Biogene LLC (Estonia). RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, BFSP2, RS1, CNNM4, SAG, SDCCAG8, BMP4, SEMA4A, SIX6, SLC24A1, SOX2 , (...) View the complete list with 259 more genes Panel complete gene list RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, BFSP2, RS1, CNNM4, SAG, SDCCAG8, BMP4, SEMA4A, SIX6, SLC24A1, SOX2, TACSTD2, ZEB1, TEAD1, TGFBI, TIMM8A, TIMP3, TREX1, CEP41, TULP1, TYR, TYRP1, USH1C, CFAP410, USH2A, CLRN1, VAX1, VIM, BEST1, VSX1, WFS1, ARL6, RPGRIP1, CDH23, CA4, CABP4, CACNA1F, C1QTNF5, ELOVL4, TMEM237, CDHR1, FYCO1, PCDH15, PRPF31, JAM3, KLHL7, PRPF6, ABHD12, PANK2, RP1L1, CHMP4B, YAP1, USH1G, WHRN, TRIM32, SLC4A11, SLC45A2, MFN2, ADAMTS18, RIMS1, PRPF8, PRPF3, ADGRV1, CDH3, INVS, NMNAT1, MFRP, GIPC3, RAX2, WDR19, IMPG2, NAA10, GRIP1, BBS7, NPHP4, FRAS1, CHM, RD3, VSX2, TTLL5, RDH12, TTC8, GPR143, CACNA2D4, B3GLCT, SMOC1, SPATA7, DHDDS, TPP1, CLN3, CLN5, CLN6, CLN8, BCOR, PITPNM3, CNGA1, CNGA3, CNGB1, CNGB3, EYS, AHI1, ADAM9, TSPAN12, TOPORS, CERKL, VPS13B, COL11A1, AGK, COL11A2, COL4A1, COL8A2, COL9A1, COL9A2, GNPTG, CYP4V2, ZNF469, FREM1, CRB1, PIKFYVE, CRX, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CIB2, VCAN, FLVCR1, CTDP1, TMEM216, CTNNA1, CTSD, TMEM126A, FREM2, ARL13B, C19orf12, TTC21B, OFD1, TCTN2, FAM161A, CYP1B1, TCTN1, PDZD7, BBS10, ZNF513, BBS12, TMEM138, DCN, C8orf37, WDPCP, TMEM67, MFSD8, IQCB1, CEP290, IFT140, RPGRIP1L, ZNF644, CC2D2A, BBS9, RGS9BP, KIF7, STRA6, UBIAD1, TDRD7, POC1B, SNRNP200, GPR179, LCA5, EFEMP1, PRCD, EPHA2, ABCA4, PCARE, AIPL1, PRSS56, FSCN2, FTL, FZD4, GALK1, GALT, OPN1MW, GDF3, GDF6, GFER, GJA1, GJA3, ALMS1, GNAT1, GNAT2, GRM6, GRN, GSN, GUCA1A, GUCA1B, GUCY2D, ABCB6, HARS, HCCS, CFH, HMX1, HSF4, IDH3B, ABCC6, IMPDH1, IMPG1, ITM2B, JAG1, KCNJ13, KIF11, KRT12, KRT3, LAMA1, LIM2, LRAT, LRP5, LZTFL1, MAK, CHST6, MERTK, MIP, MKKS, MKS1, TRPM1, MTTP, MVK, MYO7A, MYOC, NDP, NHS, NPHP1, NPHP3, NR2E3, NRL, NYX, OAT, OPA1, OPA3, OTX2, PAX2, PAX6, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PEX7, PHYH, PITX2, PITX3, PLA2G5, PPT1, PRDM5, PROM1, BBS1, BBS2, BBS4, BBS5, RAB28, RBP3, RBP4, RDH5, PRPH2, RGR Specificity 1 % Genes 100 %
Glaucoma. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain). RPGRIP1, OPTN, ASB10, OLFM2, MFRP, VSX2, COL8A2, CYP1B1, SH3PXD2B, WDR36, FOXC1, PRSS56, LOXL1, LTBP2, MYOC, NTF4, OPA1, OPTC, PAX6 Specificity 6 % Genes 100 %
Glaucoma (Advance). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain). RPS19, SLC4A4, TTR, BEST1, RPGRIP1, CA4, ACVR1, OPTN, ASB10, OLFM2, RRM2B, MFRP, CANT1, VSX2, SBF2, COL18A1, COL8A2, CYP1B1, SH3PXD2B, WDR36 , (...) View the complete list with 14 more genes Panel complete gene list RPS19, SLC4A4, TTR, BEST1, RPGRIP1, CA4, ACVR1, OPTN, ASB10, OLFM2, RRM2B, MFRP, CANT1, VSX2, SBF2, COL18A1, COL8A2, CYP1B1, SH3PXD2B, WDR36, ISPD, FOXC1, PRSS56, LMX1B, LOXL1, LTBP2, MTHFR, MYOC, NTF4, OPA1, OPTC, PAX6, PITX3, POMT1 Specificity 3 % Genes 100 %

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Sources and references

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OMIM MESH Rare Disease Symptoms Checker

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