Cataract 15, Multiple Types; Ctrct15

Table of contents:

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

Description

Mutations in the MIP gene have been found to cause multiple types of cataract, which have been described as 'polymorphic,' progressive punctate lamellar, cortical, anterior and posterior polar, nonprogressive lamellar with sutural opacities, embryonic nuclear, and pulverulent cortical.

Genes related to Cataract 15, Multiple Types; Ctrct15

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Clinical Features

Phenotypes and symptoms related to Cataract 15, Multiple Types; Ctrct15

Cataract
Congenital cataract
Nuclear cataract
Cortical cataract
Lamellar cataract

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.

Cataract 15, Multiple Types; Ctrct15 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Cataracts (NGS panel for 41 genes). By CGC Genetics (Portugal). BFSP1, BFSP2, VIM, WFS1, FYCO1, PXDN, CHMP4B, P3H2, AGK, SLC16A12, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC , (...) View the complete list with 21 more genes Panel complete gene list BFSP1, BFSP2, VIM, WFS1, FYCO1, PXDN, CHMP4B, P3H2, AGK, SLC16A12, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, SIL1, CTDP1, TDRD7, EPHA2, EYA1, FOXE3, FTL, GALK1, GALT, GCNT2, GJA3, GJA8, HSF4, LIM2, MAF, MIP, NHS, PAX6, PITX3 Specificity 3 % Genes 100 %
Congenital Cataracts Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). BFSP1, BFSP2, VIM, FYCO1, PXDN, CHMP4B, P3H2, AGK, SLC16A12, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS , (...) View the complete list with 20 more genes Panel complete gene list BFSP1, BFSP2, VIM, FYCO1, PXDN, CHMP4B, P3H2, AGK, SLC16A12, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, FAM126A, SIL1, CTDP1, TDRD7, MIR184, EPHA2, EYA1, FOXE3, GALK1, GCNT2, GJA3, GJA8, HSF4, LIM2, MAF, MIP, NHS, PAX6, PITX3, SLC33A1 Specificity 3 % Genes 100 %
Autosomal Dominant Congenital Cataracts via MIP Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). MIP Specificity 100 % Genes 100 %
Cataract. By MGZ Medical Genetics Center (Germany). BFSP1, BFSP2, SIX6, VIM, WFS1, RAB18, FYCO1, JAM3, TBC1D20, CHMP4B, RAB3GAP1, RAB3GAP2, P3H2, VSX2, COL11A1, COL18A1, COL4A1, COL4A2, SLC16A12, CRYAA , (...) View the complete list with 44 more genes Panel complete gene list BFSP1, BFSP2, SIX6, VIM, WFS1, RAB18, FYCO1, JAM3, TBC1D20, CHMP4B, RAB3GAP1, RAB3GAP2, P3H2, VSX2, COL11A1, COL18A1, COL4A1, COL4A2, SLC16A12, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, FAM126A, SIL1, CTDP1, CYP27A1, EPG5, TDRD7, MIR184, TMEM114, EPHA2, ERCC1, ERCC2, ERCC5, ERCC6, EYA1, FOXC1, FOXE3, FTL, GALK1, GCNT2, GJA3, GJA8, GLA, ABCB6, HSF4, LIM2, LTBP2, MAF, MIP, MYH9, NHS, OPA3, PAX6, PITX2, SLC33A1 Specificity 2 % 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 %
Comprehensive mitochondrial disorders panel. By Centogene AG - the Rare Disease Company (Germany). RNASEL, BCS1L, MRPL3, SARDH, SCO1, SCO2, SCP2, SDHA, SDHB, SDHC, SDHD, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC9A6, SOD2, SPG7, STAR , (...) View the complete list with 156 more genes Panel complete gene list RNASEL, BCS1L, MRPL3, SARDH, SCO1, SCO2, SCP2, SDHA, SDHB, SDHC, SDHD, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC9A6, SOD2, SPG7, STAR, SUCLA2, SUCLG1, SUOX, SURF1, TWNK, ACO2, TIMM8A, TK2, TSFM, TUFM, UNG, UQCRB, GFM1, MRPS16, SLC25A20, HTRA2, SLC25A19, MRPS22, PINK1, PANK2, COX4I2, PARK7, LIAS, KIF1B, MCEE, MFN2, HAX1, LARS2, TIMM44, AASS, SARS2, TMLHE, ATPAF2, NDUFAF1, MMAA, MMAB, SLC25A22, CYCS, NDUFA11, BRIP1, PDHX, ACAD9, DIABLO, AGK, COX10, COX15, COX6B1, ABAT, CPOX, CPT1A, CPT2, DMGDH, COQ2, TRMU, CYP11A1, CYP11B1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, DBT, DGUOK, DHODH, DLAT, DLD, CRBN, AFG3L2, AGXT, ETFA, ETFB, ETFDH, ACSL4, AK2, FECH, FH, FXN, ALAS2, ALDH4A1, ALDH5A1, GATM, GCDH, GCSH, GK, GLDC, GLUD1, AMACR, ABCB6, AMT, HADH, ABCB7, HADHA, HADHB, HK1, HLCS, HMGCL, HMGCS2, HSD3B2, HSPA9, HSPD1, IDH2, IDH3B, PDX1, IVD, MAOA, MCCC1, MCCC2, MIP, MLYCD, ALDH6A1, MTRR, MMUT, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OAT, OGG1, OPA1, OPA3, ATP5F1E, OTC, OXCT1, PC, PCCA, PCCB, ACAD8, ATP7B, PCK2, PDHA1, PDHB, ACADM, AUH, ACADS, ACADSB, POLG, POLG2, ACADVL, PDP1, PPOX, ACAT1, PRODH, CAVIN1, ALDH18A1, BCKDHA, BCKDHB Specificity 1 % Genes 100 %
Cataract panel. By Centogene AG - the Rare Disease Company (Germany). BFSP1, BFSP2, VIM, WFS1, UNC45B, FYCO1, CHMP4B, P3H2, VSX2, BCOR, LEMD2, AGK, SLC16A12, SIPA1L3, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1 , (...) View the complete list with 25 more genes Panel complete gene list BFSP1, BFSP2, VIM, WFS1, UNC45B, FYCO1, CHMP4B, P3H2, VSX2, BCOR, LEMD2, AGK, SLC16A12, SIPA1L3, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, TDRD7, EPHA2, EYA1, FOXC1, FOXE3, FTL, GALK1, GCNT2, GJA3, GJA8, HSF4, LIM2, LSS, MAF, MIP, NHS, PAX6, PITX3 Specificity 3 % Genes 100 %
Cataract Panel. By CeGaT GmbH (Germany). BFSP1, BFSP2, VIM, FYCO1, PXDN, CHMP4B, P3H2, BCOR, AGK, SLC16A12, SIPA1L3, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGA, CRYGB , (...) View the complete list with 21 more genes Panel complete gene list BFSP1, BFSP2, VIM, FYCO1, PXDN, CHMP4B, P3H2, BCOR, AGK, SLC16A12, SIPA1L3, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGA, CRYGB, CRYGC, CRYGD, CRYGS, SIL1, TDRD7, EPHA2, EYA1, FOXE3, FTL, GALK1, GCNT2, GJA3, GJA8, HSF4, LIM2, LSS, MAF, MIP, NHS, PAX6, PITX3 Specificity 3 % Genes 100 %

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Sources and references

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