ACMG Recommendations for Reporting of Secondary Findings in Clinical Exome and Genome Sequencing
The American College of Medical Genetics and Genomics has published recommendations for reporting secondary findings in clinical exome and genome sequencing.
The most recent recommendation is ACMG SF v3.2. Compared to the previous version, three genes were added - CALM1, CALM2, and CALM3. No genes were removed between the v3.2 and v3.1 lists.
The original published recommendation (PubMed 23788249) and the original PDF file are available, as well as clarifications and updates. Please note that NTRK1 was removed in an update to the original list.
NCBI adapted Table 1 of the original recommendation to facilitate access to information about the genes and diseases the table cites and to provide links to variation asserted to be pathogenic or likely pathogenic by at least one submitter to ClinVar. The content was generated from the MIM numbers reported in the ACMG recommendations, but disease names may be updated to correspond to what is used in MedGen for that MIM number. The link to ClinVar is provided only to support access; the results should not be interpreted as a statement that these alleles are universally accepted to be pathogenic or likely pathogenic.
YH7
| Disease name and MIM number | MedGen | Gene via GTR | Variations that may be pathogenic |
|---|---|---|---|
| Adenomatous polyposis coli (MIM 175100) | MedGen C2713442 | APC (MIM 611731) | ClinVar |
| Aortic aneurysm, familial thoracic 4 (MIM 132900) | MedGen C1851504 | MYH11 (MIM 160745) | ClinVar |
| Aortic aneurysm, familial thoracic 6 (MIM 611788) | MedGen C2673186 | ACTA2 (MIM 102620) | ClinVar |
| Arrhythmogenic right ventricular cardiomyopathy, type 5 (MIM 604400) | MedGen C1858379 | TMEM43 (MIM 612048) | ClinVar |
| Arrhythmogenic right ventricular cardiomyopathy, type 8 (MIM 607450) | MedGen C1843896 | DSP (MIM 125647) | ClinVar |
| Arrhythmogenic right ventricular cardiomyopathy, type 9 (MIM 609040) | MedGen C1836906 | PKP2 (MIM 602861) | ClinVar |
| Arrhythmogenic right ventricular cardiomyopathy, type 10 (MIM 610193) | MedGen C1857777 | DSG2 (MIM 125671) | ClinVar |
| Arrhythmogenic right ventricular cardiomyopathy, type 11 (MIM 610476) | MedGen C1864850 | DSC2 (MIM 125645) | ClinVar |
| Biotinidase deficiency (MIM 253260) | MedGen C0220754 | BTD (MIM 609019) | ClinVar |
| Breast-ovarian cancer, familial 1 (MIM 604370) | MedGen C2676676 | BRCA1 (MIM 113705) | ClinVar |
| Breast-ovarian cancer, familial 2 (MIM 612555) | MedGen C2675520 | BRCA2 (MIM 600185) | ClinVar |
| Brugada syndrome 1 (MIM 601144) | MedGen CN029323 | SCN5A (MIM 600163) | ClinVar |
| Catecholaminergic polymorphic ventricular tachycardia 1 (MIM 604772) | MedGen C4053736 | RYR2 (MIM 180902) | ClinVar |
| Catecholaminergic polymorphic ventricular tachycardia 2 (MIM 611938) | MedGen C2677794 | CASQ2 (MIM 114251) | ClinVar |
| Catecholaminergic polymorphic ventricular tachycardia 4 (MIM 614916) | MedGen C3554047 | CALM1 (MIM 614916) | ClinVar |
| Catecholaminergic polymorphic ventricular tachycardia 5 (MIM 615441) | MedGen C3809536 | TRDN (MIM 603283) | ClinVar |
| Dilated cardiomyopathy (MIM 617047) | MedGen C4310749 | FLNC (MIM 102565) | ClinVar |
| Dilated cardiomyopathy 1A (MIM 115200) | MedGen C1449563 | LMNA (MIM 150330) | ClinVar |
| Dilated cardiomyopathy 1D (MIM 601494) | MedGen C1832243 | TNNT2 (MIM 191045) | ClinVar |
| Dilated cardiomyopathy 1E (MIM 601154) | MedGen C1832680 | SCN5A (MIM 600163) | ClinVar |
| Dilated cardiomyopathy 1I (MIM 604765) | MedGen C1858154 | DES (MIM 125660) | ClinVar |
| Dilated cardiomyopathy 1S (MIM 613426) | MedGen C1834481 | MYH7 (MIM 160760) | ClinVar |
| Dilated cardiomyopathy 1Z (MIM 611879) | MedGen C2678475 | TNNC1 (MIM 191040) | ClinVar |
| Dilated cardiomyopathy 1DD (MIM 613172) | MedGen C2750995 | RBM20 (MIM 613171) | ClinVar |
| Dilated cardiomyopathy 1HH (MIM 613881) | MedGen C3151293 | BAG3 (MIM 603883) | ClinVar |
| Dilated cardiomyopathy (truncating variants only) (MIM 604145) | MedGen C1858763 | TTN (MIM 188840) | ClinVar |
| Dilated cardiomyopathy with woolly hair, palmoplantar keratoderma, and tooth agenesis (MIM 615821) | MedGen C4014393 | DSP (MIM 125647) | ClinVar | Ehlers-Danlos syndrome, type 4 (MIM 130050) | MedGen C0268338 | COL3A1 (MIM 120180) | ClinVar |
| Fabry's disease (MIM 301500) | MedGen C0002986 | GLA (MIM 300644) | ClinVar |
| Familial hypercholesterolemia 1 (MIM 143890) | MedGen C0745103 | LDLR (MIM 606945) | ClinVar |
| Familial hypercholesterolemia 2 (MIM 144010) | MedGen C1704417 | APOB (MIM 107730) | ClinVar |
| Familial hypertrophic cardiomyopathy 1 (MIM 192600) | MedGen C3495498 | MYH7 (MIM 160760) | ClinVar |
| Familial hypertrophic cardiomyopathy 2 (MIM 115195) | MedGen C1861864 | TNNT2 (MIM 191045) | ClinVar | Familial hypertrophic cardiomyopathy 3 (MIM 115196) | MedGen C1861863 | TPM1 (MIM 191010) | ClinVar |
| Familial hypertrophic cardiomyopathy 4 (MIM 115197) | MedGen C1861862 | MYBPC3 (MIM 600958) | ClinVar |
| Familial hypertrophic cardiomyopathy 6 (MIM 600858) | MedGen C1833236 | PRKAG2 (MIM 602743) | ClinVar |
| Familial hypertrophic cardiomyopathy 7 (MIM 613690) | MedGen CN069699 | TNNI3 (MIM 191044) | ClinVar |
| Familial hypertrophic cardiomyopathy 8 (MIM 608751) | MedGen C1837471 | MYL3 (MIM 160790) | ClinVar |
| Familial hypertrophic cardiomyopathy 10 (MIM 608758) | MedGen C1834460 | MYL2 (MIM 160781) | ClinVar |
| Familial hypertrophic cardiomyopathy 11 (MIM 612098) | MedGen C2677506 | ACTC1 (MIM 102540) | ClinVar |
| Familial medullary thyroid carcinoma (MIM 155240) | MedGen C1833921 | RET (MIM 164761) | ClinVar |
| Hereditary breast cancer (MIM 114480) | MedGen C0346153 | PALB2 (MIM 610355) | ClinVar |
| Hereditary hemochromatosis (c.845G>A; p.C282Y homozygotes only) (MIM 235200) | MedGen C3469186 | HFE (MIM 613609) | ClinVar |
| Hereditary hemorrhagic telangiectasia type 1 (MIM 187300) | MedGen C4551861 | ENG (MIM 131195) | ClinVar |
| Hereditary hemorrhagic telangiectasia type 2 (MIM 600376) | MedGen C1838163 | ACVRL1 (MIM 601284) | ClinVar |
| Hereditary paraganglioma-pheochromocytoma syndrome (MIM 168000, MIM 171300) | MedGen C3494181, C0031511 | SDHD (MIM 602690) | ClinVar |
| Hereditary paraganglioma-pheochromocytoma syndrome (MIM 115310, MIM 171300) | MedGen C1861848, C0031511 | SDHB (MIM 185470) | ClinVar |
| Hereditary transthyretin-related amyloidosis (MIM 105210) | MedGen C2751492 | TTR (MIM 176300) | ClinVar |
| Hypercholesterolemia, autosomal dominant, 3 (MIM 603776) | MedGen C1863551 | PCSK9 (MIM 607786) | ClinVar |
| Juvenile polyposis syndrome (MIM 174900) | MedGen C0345893 | BMPR1A (MIM 601299) | ClinVar |
| Juvenile polyposis syndrome (MIM 174900) | MedGen C0345893 | SMAD4 (MIM 600993) | ClinVar |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (MIM 175050) | MedGen C1832942 | SMAD4 (MIM 600993) | ClinVar | Li-Fraumeni syndrome 1 (MIM 151623) | MedGen C1835398 | TP53 (MIM 191170) | ClinVar |
| Loeys-Dietz syndrome type 1A (MIM 609192) | MedGen C1836635 | TGFBR1 (MIM 190181) | ClinVar |
| Loeys-Dietz syndrome type 1B (MIM 610168) | MedGen C2674876 | TGFBR2 (MIM 190182) | ClinVar |
| Loeys-Dietz syndrome type 3 (MIM 613795) | MedGen C3151087 | SMAD3 (MIM 603109) | ClinVar |
| Long QT syndrome | MedGen C0023976 | TRDN (MIM 603283) | ClinVar |
| Long QT syndrome 1 (MIM 192500) | MedGen C0035828 | KCNQ1 (MIM 607542) | ClinVar |
| Long QT syndrome 2 (MIM 613688) | MedGen C1835325 | KCNH2 (MIM 152427) | ClinVar |
| Long QT syndrome 3 (MIM 603830) | MedGen C1859062 | SCN5A (MIM 600163) | ClinVar |
| Long QT syndrome 14 (MIM 616247) | MedGen C4015671 | CALM1 (MIM 114180) | ClinVar |
| Long QT syndrome 15 (MIM 616249); also associated with catecholaminergic polymorphic ventricular tachycardia | MedGen C4015695 | CALM2 (MIM 114182) | ClinVar |
| Long QT syndrome 16 (MIM 618782); also associated with catecholaminergic polymorphic ventricular tachycardia | MedGen C5394068 | CALM3 (MIM 114183) | ClinVar |
| Lynch syndrome 1 (MIM 120435) | MedGen C2936783 | MSH2 (MIM 609309) | ClinVar |
| Lynch syndrome 2 (MIM 609310) | MedGen C1333991 | MLH1 (MIM 120436) | ClinVar |
| Lynch syndrome 4 (MIM 614337) | MedGen C1838333 | PMS2 (MIM 600259) | ClinVar |
| Lynch syndrome 5 (MIM 614350) | MedGen C1833477 | MSH6 (MIM 600678) | ClinVar |
| Malignant hyperthermia (MIM 145600) | MedGen C0024591 | RYR1 (MIM 180901) | ClinVar |
| Malignant hyperthermia (MIM 601887) | MedGen C1866077 | CACNA1S (MIM 114208) | ClinVar |
| Marfan's syndrome (MIM 154700) | MedGen C0024796 | FBN1 (MIM 134797) | ClinVar |
| Maturity-Onset of Diabetes of the Young (MIM 600496) | MedGen C1838100 | HNF1A (MIM 142410) | ClinVar |
| Multiple endocrine neoplasia, type 1 (MIM 131100) | MedGen C0025267 | MEN1 (MIM 613733) | ClinVar |
| Multiple endocrine neoplasia, type 2a (MIM 171400) | MedGen C0025268 | RET (MIM 164761) | ClinVar |
| Multiple endocrine neoplasia, type 2b (MIM 162300) | MedGen C0025269 | RET (MIM 164761) | ClinVar |
| MYH-associated polyposis (MIM 608456) | MedGen C1837991 | MUTYH (MIM 604933) | ClinVar |
| Myofibrillar myopathy 1 (MIM 601419) | MedGen C1832370 | DES (MIM 125660) | ClinVar |
| Myofibrillar myopathy 5 (MIM 609524) | MedGen C1836050 | FLNC (MIM 102565) | ClinVar |
| Myofibrillar myopathy 6 (MIM 612954) | MedGen C2751831 | BAG3 (MIM 603883) | ClinVar |
| Neurofibromatosis, type 2 (MIM 101000) | MedGen C0027832 | NF2 (MIM 607379) | ClinVar |
| Ornithine carbamoyltransferase deficiency (MIM 311250) | MedGen C0268542 | OTC (MIM 300461) | ClinVar |
| Paragangliomas 2 (MIM 601650) | MedGen C1866552 | SDHAF2 (MIM 613019) | ClinVar |
| Paragangliomas 3 (MIM 605373) | MedGen C1854336 | SDHC (MIM 602413) | ClinVar |
| Peutz-Jeghers syndrome (MIM 175200) | MedGen C0031269 | STK11 (MIM 602216) | ClinVar |
| Pheochromocytoma (MIM 171300) | MedGen C0031511 | MAX (MIM 154950) | ClinVar |
| Pheochromocytoma (MIM 171300) | MedGen C0031511 | TMEM127 (MIM 613403) | ClinVar |
| Pompe disease (MIM 232300) | MedGen C0017921 | GAA (MIM 606800) | ClinVar |
| PTEN hamartoma tumor syndrome (MIM 158350) | MedGen C1959582 | PTEN (MIM 601728) | ClinVar |
| Retinoblastoma (MIM 180200) | MedGen C0035335 | RB1 (MIM 614041) | ClinVar |
| RPE65-related retinopathy (MIM 204100, MIM 613794) | MedGenC1859844, C3151086 | RPE65 (MIM 180069) | ClinVar |
| Tuberous sclerosis 1 (MIM 191100) | MedGen C1854465 | TSC1 (MIM 605284) | ClinVar |
| Tuberous sclerosis 2 (MIM 613254) | MedGen C1860707 | TSC2 (MIM 191092) | ClinVar |
| Von Hippel-Lindau syndrome (MIM 193300) | MedGen C0019562 | VHL (MIM 608537) | ClinVar |
| Wilms' tumor (MIM 194070) | MedGen C0027708 | WT1 (MIM 607102) | ClinVar |
| Wilson disease (MIM 277900) | MedGen C0019202 | ATP7B (MIM 606882) | ClinVar |