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Table 1 CADRe rubric application

From: Application of a framework to guide genetic testing communication across clinical indications

Category Genes included Rationale
Genes included in the American College of Medical Genetics secondary findings (ACMG SF) v2.0 [24] Cancer risk: BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2, RET, BMPR1A, SMAD4, TP53, MEN1, TSC1, TSC2, PTEN, STK11, APC, VHL, NF2, RB1, SDHD, SDHAF2, SDHC, SDHB, MUTYH, WT1
Cardiovascular risk: FBN1, TGFBR1, TGFBR2, SMAD3, ACTA2, MYH11, COL3A1, LDLR, APOB, PCSK9, RYR2, KCNQ1, KCNH2, SCN5A, MYBPC3, MYH7, TNNT2, TNNI3, TPM1, MYL3, ACTC1, PRKAG2, MYL2, LMNA, PKP2, DSP, DSC2, TMEM43, DSG2
Metabolic: GLA, OTC, ATP7B
Other: RYR1, CACNA1S
Well described, evidence for medical intervention, commonly evaluated [25]
Moderate penetrance cancer risk Breast cancer risk: ATM, CHEK2, PALB2, BARD1
Colon cancer risk: GREM1, POLD1, POLE
Commonly included on genetic testing panels with similar phenotypes as some genes in the ACMG SF v2.0 [24, 26]
Moderate evidence cardiomyopathy risk [27] Cardiovascular risk: CSRP3, TNNC1, JPH2 Commonly included on genetic testing panels with similar phenotypes as some genes in the ACMG SF v2.0 [24, 26]
Genes that have limited evidence of gene-disease association for hypertrophic cardiomyopathy [27] Limited evidence hypertrophic cardiomyopathy risk: TTN, KLF10, MYPN, ANKRD1 Included as preliminary evidence add-on genes on genetic testing panels [26]
Genes that have refuted or disputed evidence of gene-disease association for breast cancer risk [28] BRIP1, RAD51C Included on broad cancer panels, may not relate to indication for testing, and yet would have management recommendations if a pathogenic/likely pathogenic variant is identified [26]
Genes associated with risk for neurodegenerative disorders HTT, APP, PSEN1, PSEN2, MAPT, GRN, SOD1, c9orf72, ApoE Not clinically actionable
Exome Not Applicable Increasingly common genetic testing in which multiple genetic conditions are under consideration