Disease category | Syndrome | Gene(s) |
Cancer | Breast and ovarian cancer | BRCA1, BRCA2, PALB2Δ |
Li-Fraumeni syndrome, Peutz-Jeghers syndrome; Juvenile polyposis, and PTEN hamartoma syndrome | BMPR1A*, PTEN, SMAD4*, STK11, TP53 | |
Familial adenomatous polyposis, Lynch syndrome, and MYH-associated polyposis | APC, MLH1, MSH2, MSH6, MUTYH, PMS2 | |
Retinoblastoma, tuberous sclerosis, Von Hippel Lindau syndrome, Wilms tumor | RB1, TSC1, TSC2, VHL, WT1 | |
Multiple endocrine neoplasia 1 or 2 and familial medullary thyroid cancer | MEN1, RET | |
Hereditary paraganglionoma-pheochromocytoma syndrome and neurofibromatosis type 2 | MAXΔ, NF2, SDHAF2, SDHB, SDHC, SDHD, TMEM127Δ | |
Cardiovascular disease | Hypertrophic or dilated cardiomyopathy | ACTC1, BAG3Δ, DESΔ, FLNC, GLA, LMNA, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, RBM20Δ, TNNC1Δ, TNNI3, TNNT2, TPM1, TTN |
Catecholaminergic polymorphic VT, arrhythmogenic right ventricular cardiomyopathy, Long QT syndromes, and Brugada syndrome | CALM1Δ, CALM2Δ, CALM3Δ, CASQ2Δ, DSC2, DSG2, DSP, KCNH2, KCNQ1, PKP2, RYR2, SCN5A, TMEM43, TRDNΔ | |
Familial hypercholesterolemia | APOB, LDLR, PCSK9 | |
Connective tissue or vascular integrity | Ehlers-Danlos syndrome (vascular type) | COL3A1 |
Hereditary hemorrhagic telangiectasia | ACVRL1Δ, ENGΔ | |
Marfan syndrome, Loeys-Dietz syndrome, and familial thoracic aortic aneurysms and dissections | ACTA2, FBN1, MYH11¶, SMAD3, TGFBR1, TGFBR2 | |
Malignant hyperthermia sensitivity | CACNA1S, RYR1 | |
Metabolism | Wilson disease (copper metabolism) | ATP7B* |
Biotinidase deficiency | BTDΔ | |
Fabry disease | GLA | |
Pompe disease | GAAΔ | |
Ornithine transcarbamylase deficiency (urea cycle) | OTC* | |
Others | Hereditary hemochromatosis | HFEΔ |
Maturity-onset diabetes of the young | HNF1AΔ | |
Retinopathy | RPE65Δ | |
Hereditary amyloidosis | TTRΔ |
ACMG: American College of Medical Genetics and Genomics; VT: ventricular tachycardia.
* Added in the 2016 revision (ACMG 2.0).
¶ MYLK was removed in the 2016 revision due to lack of an effective confirmatory test or intervention to improve outcomes.
Δ Added in the 2023 revision (ACMG 3.0 to 3.2).آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟