Learn about the genes Color analyzes.
The genes we analyze depends on the version of Color you use.
For people who want a more complete understanding of their genes and health, and for those who have a personal or family history of conditions covered. Includes all genes currently analyzed by Color.
Color Extended: The most relevant genes for common hereditary cancers
Gene | Breast | Ovarian | Uterine | Colorectal | Melanoma | Pancreatic | Stomach | Prostate* |
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BRCA1 |
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BRCA2 |
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MLH1 |
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MSH2 |
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MSH6 |
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PMS2* |
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EPCAM* |
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APC |
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MUTYH* |
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MITF* |
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BAP1 |
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CDKN2A |
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CDK4* |
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TP53 |
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PTEN |
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STK11 |
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CDH1 |
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BMPR1A |
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SMAD4 |
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GREM1* |
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POLD1* |
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POLE* |
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PALB2 |
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CHEK2 |
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ATM |
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BARD1 |
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BRIP1 |
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RAD51C |
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RAD51D |
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* CDK4: analysis is limited to chr12:g.58145429-58145431 (codon 24). EPCAM: analysis is limited to deletions that minimally encompass the 3’ end of the gene including exons 8 and/or 9. GREM1: analysis is limited to duplications that overlap the upstream regulatory region. MITF: analysis is limited to chr3:g.70014091 (including c.952G>A). MUTYH: single heterozygous pathogenic variants, likely pathogenic variants, and variants of uncertain significance are not reported. PMS2: variants of uncertain significance are not reported for exons 12-15. Analysis excludes three variants commonly observed in the pseudogene PMS2CL: c.2182_2184delinsG, c.2243_2246delAGAA and deletion of exons 13-14 (chr7:g.6015768_6018727del). POLD1: analysis is limited to chr19:g.50909713 (including c.1433G>A). POLE: analysis is limited to chr12:g.133250250 (including c.1270C>G). |
Color Extended: The most relevant genes for common hereditary heart conditions
Gene | Cardiomyopathies | Arrhythmias | Arteriopathies | Familial Hypercholesterolemia |
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ACTA2 |
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ACTC1 |
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APOB* |
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COL3A1 |
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DSC2 |
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DSG2 |
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DSP |
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FBN1 |
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GLA |
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KCNH2* |
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KCNQ1* |
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LDLR |
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LMNA |
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MYBPC3* |
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MYH7* |
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MYH11 |
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MYL2 |
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MYL3 |
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PCSK9 |
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PKP2 |
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PRKAG2* |
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RYR2 |
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SCN5A |
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SMAD3 |
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TGFBR1* |
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TGFBR2 |
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TMEM43 |
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TNNI3 |
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TNNT2 |
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TPM1 |
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* APOB: analysis is limited to chr2:g.21229159_21229161 (codon 3527). KCNH2: exon 4 and 14 are not analyzed. KCNQ1: exon 1 is not analyzed. MYBPC3: exon 11 is not analyzed. MYH7: variants of uncertain significance are not reported for exon 27. PRKAG2: exon 5 is not analyzed. TGFBR1: exon 1 is not analyzed. |
Color Extended: Genes associated with some commonly prescribed medications
Gene | Star alleles and variants analyzed |
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CYP1A2 | *1, *1F, *1K |
CYP2C9 | *1, *2, *3, *4, *5, *6, *8, *9, *11, *12, *13, *14, *15, *16, *23, *24, *26, *29, *31, *33, *35, *39, *42, *43, *44, *45, *46, *55, *61 |
CYP2C19 | *1, *2, *3, *4, *5, *6, *7, *8, *9, *10, *16, *17, *19, *22, *24, *25, *26, *35, *38 |
CYP2D6 | *1, *2, *3, *4, *4N, *5, *6, *7, *8, *9, *10, *11, *12, *13, *14, *15, *17, *18, *19, *21, *29, *31, *32, *35, *36, *40, *41, *42, *45, *49, *54, *55, *56, *59, *68, *69, *114 |
CYP3A4 | *1, *20, *22 |
CYP3A5 | *1, *3, *6, *7 |
CYP4F2 | *1, *2, *3, *4, rs2108622 |
DPYD | reference (*1), c.299_302del (*7), c.557A>G, c.703C>T (*8), c.868A>G, c.1129-5923C>G (HapB3), c.1156G>T (*12), c.1314T>G, c.1475C>T, c.1679T>G (*13), c.1774C>T, c.1898del (*3), c.1905+1G>A (*2A), c.2279C>T, c.2639G>T, c.2846A>T, c.2983G>T (*10), rs3918290, rs55886062.1 A>C, rs75017182, rs56038477, rs67376798, rs115232898 |
F5 | rs6025 |
IFNL3 | rs12979860 |
NUDT15 | *1, *2, *3, *4, *6, *9, *14, rs116855232 |
SLCO1B1 | *1, *5, *9, *14, *15, *20, *31, *46, *47, rs2306283, rs4149056 |
TPMT | *1, *2, *3A, *3B, *3C, *4, *8, *11, *14, *15, *23, *24, *29, *41, *42 |
VKORC1 | rs9923231, rs72547529, rs61742245 |
Available through employers and healthcare providers. Includes only the 10 most actionable genes, recognized by the CDC as important for public health, and genes related to medication reaction.
Color Standard: Cancer genes recognized by the CDC as important for public health
Gene | Breast | Ovarian | Uterine | Colorectal | Melanoma | Pancreatic | Stomach | Prostate* |
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BRCA1 |
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BRCA2 |
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MLH1 |
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MSH2 |
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MSH6 |
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PMS2* |
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EPCAM* |
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* EPCAM: analysis is limited to deletions that minimally encompass the 3’ end of the gene including exons 8 and/or 9. PMS2: variants of uncertain significance are not reported for exons 12-15. Analysis excludes three variants commonly observed in the pseudogene PMS2CL: c.2182_2184delinsG, c.2243_2246delAGAA and deletion of exons 13-14 (chr7:g.6015768_6018727del). |
Color Standard: Familial Hypercholesterolemia (FH) genes recognized by the CDC as important for public health
Gene | Familial Hypercholesterolemia (FH) |
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APOB* |
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LDLR |
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PCSK9 |
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*APOB: analysis is limited to chr2:g.21229159_21229161 (codon 3527). |
Color Standard: Genes associated with some commonly prescribed medications
Gene | Star alleles and variants analyzed |
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CYP1A2 | *1F, *1J, *1K |
CY2C9 | *1, *2, *3, *4, *5, *6, *8, *9, *11, *12, *13, *14, *15, *16, *23, *24, *26, *29, *31, *33, *35, *39, *42, *43, *44, *45, *46, *55, *61 |
CYP2C19 | *1, *2, *3, *4, *5, *6, *7, *8, *9, *10, *16, *17, *19, *22, *24, *25, *26, *35, *38 |
CYP2D6 | *1, *2, *3, *4, *4N, *5, *6, *7, *8, *9, *10, *11, *12, *13, *14, *15, *17, *18, *19, *21, *29, *31, *32, *35, *36, *40, *41, *42, *45, *49, *54, *55, *56, *59, *68, *69, *114 |
CYP3A4 | *1, *20, *22 |
CYP3A5 | *1, *3, *6, *7 |
CYP4F2 | *1, *2, *3, *4, rs2108622 |
DPYD | reference (*1), c.299_302del (*7), c.557A>G, c.703C>T (*8), c.868A>G, c.1129-5923C>G (HapB3), c.1156G>T (*12), c.1314T>G, c.1475C>T, c.1679T>G (*13), c.1774C>T, c.1898del (*3), c.1905+1G>A (*2A), c.2279C>T, c.2639G>T, c.2846A>T, c.2983G>T (*10), rs3918290, rs55886062.1 A>C, rs75017182, rs56038477, rs67376798, rs115232898 |
F5 | rs6025 |
IFNL3 | rs12979860 |
NUDT15 | *1, *2, *3, *4, *6, *9, *14, rs116855232 |
SLCO1B1 | *1, *5, *9, *14, *15, *20, *31, *46, *47, rs2306283, rs4149056 |
TPMT | *1, *2, *3A, *3B, *3C, *4, *8, *11, *14, *15, *23, *24, *29, *41, *42 |
VKORC1 | rs9923231, rs72547529, rs61742245 |
For those who would like to understand hereditary cancer risk only.
Color Hereditary Cancer: The most relevant genes for common hereditary cancers
Gene | Breast | Ovarian | Uterine | Colorectal | Melanoma | Pancreatic | Stomach | Prostate* |
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BRCA1 |
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BRCA2 |
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MLH1 |
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MSH2 |
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MSH6 |
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PMS2* |
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EPCAM* |
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APC |
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MUTYH* |
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MITF* |
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BAP1 |
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CDKN2A |
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CDK4* |
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TP53 |
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PTEN |
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STK11 |
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CDH1 |
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BMPR1A |
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SMAD4 |
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GREM1* |
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POLD1* |
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POLE* |
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PALB2 |
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CHEK2 |
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ATM |
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BARD1 |
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BRIP1 |
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RAD51C |
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RAD51D |
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* CDK4: analysis is limited to chr12:g.58145429-58145431 (codon 24). EPCAM: analysis is limited to deletions that minimally encompass the 3’ end of the gene including exons 8 and/or 9. GREM1: analysis is limited to duplications that overlap the upstream regulatory region. MITF: analysis is limited to chr3:g.70014091 (including c.952G>A). MUTYH: single heterozygous pathogenic variants, likely pathogenic variants, and variants of uncertain significance are not reported. PMS2: variants of uncertain significance are not reported for exons 12-15. Analysis excludes three variants commonly observed in the pseudogene PMS2CL: c.2182_2184delinsG, c.2243_2246delAGAA and deletion of exons 13-14 (chr7:g.6015768_6018727del). POLD1: analysis is limited to chr19:g.50909713 (including c.1433G>A). POLE: analysis is limited to chr12:g.133250250 (including c.1270C>G). |
Last updated: May 2024