Background
Case presentation
SYSTEMIC CHANGES | OCULAR CHANGES | |
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GSD IA | hepatomegaly, short stature, hypotonia | peripheral punctate opacities of the lens |
DGS | cleft lip and palate, dental enamel hypoplasia, hypoparathyroidism, intellectual disability | subcapsular cataract, retinal vascular tortuosity, eyelid hooding, strabismus, and astigmatism |
Virtual gene panel
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List of genes in the panel
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1 gene associated with optic nerve drusen presentation
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MFRP
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132 genes, associated with a broad set of genes associated with cataract phenotype (HP:0000518)
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ABCB6, ADAMTS10, ADAMTSL4, AGK, AGPS, AKR1E2, ALDH18A1, B3GALTL, BCOR, BFSP1, BFSP2, CBS, CHMP4B, COL11A1, COL18A1, COL2A1, COL4A1, COL4A2, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CUTL1, CYP27A1, CYP51A1, DHCR7, EPG5, EPHA2, ERCC1, ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, EYA1, FAM126A, FBN1, FKRP, FKTN, FOXC1, FOXD3, FOXE3, FTL, FYCO1, FZD4, GALK1, GALT, GCNT2, GJA1, GJA3, GJA8, GLA, GNPAT, HMX1, HSF4, JAM3, L1CAM, LARGE, LEPREL1, LIM2, LMX1B, LRP5, LTBP2, MAF, MAN2B1, MFSD6L, MIP, MIR184, MYH9, NDP, NF2, NHS, OCRL, OPA3, PAX6, PEX1, PEX10, PEX11β, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5L, PEX6, PEX7, PITX2, PITX3, POMT1, POMT2, PVRL3, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RECQL2, RECQL4, RNLS, SC5DL, SEC23A, SIL1, SIX5, SIX6, SLC16A12, SLC2A1, SLC33A1, SOLH, SORD, SOX2, SRD5A3, SREBF2, TBC1D20, TDRD7, TFAP2A, TMEM114, TMEM70, VAV2, VAV3, VIM, VSX2, WFS1
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255 genes in an expanded eye panel
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ABCA4, ABHD12, ACAD11, ADAM9, AHI1, AIPL1, ALMS1, ALX3, ALX4, ANK2, ANKRD1, ANO5, AP3B1, ARL13B, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BEST1, BLOC1S3, BLOC1S6, BMP4, C1QTNF5, C2orf71, C2ORF71, C5orf42, C8orf37, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CC2D2A, CCDC28B, CDH23, CDH3, CDHR1, CEP164, CEP290, CEP41, CERKL, CHM, CIB2, CLN3, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, CRB1, CRX, CRYBA4, CYP1B1, CYP4V2, DFNB31, DHDDS, DHODH, DTNBP1, EFEMP1, EFNB1, ELOVL4, EVC, EVC2, EYS, FAM161A, FKRP, FKTN, FLVCR1, FOXC1, FOXE3, FRAS1, FREM1, FREM2, FSCN2, FZD4, GNAT1, GNAT2, GNPTG, GPR143, GPR179, GPR98, GRK1, GRM6, GUCA1A, GUCA1B, GUCY2D, HARS, HCCS, HMCN1, HPS1, HPS3, HPS4, HPS5, HPS6, IDH3B, IL11RA, IMPDH1, IMPG2, INPP5E, INVS, IQCB1, JAG1, KCNJ13, KCNV2, KIF7, KLHL7, LARGE, LCA5, LRAT, LRIT3, LRP5, LYST, LZTFL1, MAK, MC1R, MERTK, MFN2, MFRP, MKKS, MKS1, MSX2, MTTP, MYO7A, MYOC, NDP, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NRL, NYX, OAT, OCA2, OFD1, OPA1, OPA3, OPTN, OTX2, PANK2, PAX2, PAX6, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX1, PEX2, PEX26, PEX7, PHYH, PITPNM3, PITX2, PITX3, PLA2G5, POLR1C, POMGNT1, POMT1, POMT2, PRCD, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RAB28, RAX2, RB1, RBP3, RBP4, RD3, RDH12, RDH5, RECQL4, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, SAG, SDCCAG8, SEMA4A, SIX6, SLC24A1, SLC45A2, SMOC1, SNRNP200, SOX2, SPATA7, SPG7, STRA6, TCOF1, TCTN1, TCTN2, TCTN3, TIMM8A, TIMP3, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS, TREX1, TRIM32, TRPM1, TSPAN12, TTC21B, TTC8, TTPA, TULP1, TWIST1, TYR, TYRP1, UNC119, USH1C, USH1G, USH2A, VAX1, VCAN, VPS13B, VSX2, WDPCP, WFS1, ZNF423, ZNF513
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