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). 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). |
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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. |
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Color Extended: Genes associated with some commonly prescribed medications
| Gene | Star alleles and variants analyzed |
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| CYP1A2 | *1F, *1J, *1K |
| CYP2D6 | *2, *3, *4, *4N, *5, *6, *7, *8, *9, *10, *11, *12, *14A, *14B, *15, *17, *19, *29, *35, *36, *41, *xN |
| CYP2C19 | *2, *3, *4A, *4B, *10, *17 |
| CYP2C9 | *2, *3, *4, *5, *6, *8, *11 |
| CYP3A4 | *1B, *22 |
| CYP3A5 | *3, *6, *7 |
| CYP4F2 | *3 |
| DPYD | *2A, *13 |
| F5 | rs6025 (Leiden) |
| IFNL3 | rs12979860 |
| NUDT15 | rs116855232 |
| SLCO1B1 | rs4149056 |
| TPMT | *2, *3A, *3C, *4 |
| VKORC1 | rs9923231 |
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). |
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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). |
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Color Standard: Genes associated with some commonly prescribed medications
| Gene | Star alleles and variants analyzed |
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| CYP1A2 | *1F, *1J, *1K |
| CYP2D6 | *2, *3, *4, *4N *5, *6, *7, *8, *9, *10, *11, *12, *14A, *14B, *15, *17, *19, *29, *35, *36, *41, *xN |
| CYP2C19 | *2, *3, *4A, *4B, *10, *17 |
| CYP2C9 | *2, *3, *4, *5, *6, *8, *11 |
| CYP3A4 | *1B, *22 |
| CYP3A5 | *3, *6, *7 |
| CYP4F2 | *3 |
| DPYD | *2A, *13 |
| F5 | rs6025 (Leiden) |
| IFNL3 | rs12979860 |
| NUDT15 | rs116855232 |
| SLCO1B1 | rs4149056 |
| TPMT | *2, *3A, *3C, *4 |
| VKORC1 | rs9923231 |
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* |
|---|---|---|---|---|---|---|---|---|
| BRCA1 | ||||||||
| BRCA2 | ||||||||
| MLH1 | ||||||||
| MSH2 | ||||||||
| MSH6 | ||||||||
| PMS2* | ||||||||
| EPCAM* | ||||||||
| APC | ||||||||
| MUTYH | ||||||||
| MITF* | ||||||||
| BAP1 | ||||||||
| CDKN2A | ||||||||
| CDK4* | ||||||||
| TP53 | ||||||||
| PTEN | ||||||||
| STK11 | ||||||||
| CDH1 | ||||||||
| BMPR1A | ||||||||
| SMAD4 | ||||||||
| GREM1* | ||||||||
| POLD1* | ||||||||
| POLE* | ||||||||
| PALB2 | ||||||||
| CHEK2 | ||||||||
| ATM | ||||||||
| BARD1 | ||||||||
| BRIP1 | ||||||||
| RAD51C | ||||||||
| 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). 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). |
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