Hereditary cancer | Familial breast/ovarian cancer |
ATM, BARD1, BRIP1, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, PIK3CA, STK11, TP53 |
| Familial bowel cancer including hereditary nonpolyposis colorectal cancer (HNPCC) phenotype or polyposis |
APC, BMPR1A, POLD1, POLE, KIT, MLH1, MSH2, MSH6, MUTYH, PDGFRA, PMS2, GALNT12, STK11, SMAD4 |
Cardiac disorders | Familial hypertrophic cardiomyopathies |
ACTC1, CSRP3, FHL1, GLA, LAMP2, MYBPC3, MYL2, MYL3, MYLK2, MYH6, MYH7, NEXN, PLN, PRKAG2, SLC25A4, TTN |
| Aortopathy disorders |
ACTA2, COL3A1, FBN1, FBN2, MYH11, SMAD3, SLC2A10, TGFB2, TGFB3, TGFBR1, TGFBR2 |
Neurological and neuromuscular disorders | Early infantile epileptic encephalopathy |
ALDH7A1, ARHGEF9, ARX, BTD, CHD2, CNTNAP2, CDKL5, FOXG1, GABRB3, GABRG2, GLUD1, GRIN2B, HCN1, POLG |
| Congenital muscular dystrophies |
B3GALNT2, CHKB, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COL12A1, DOLK, DPM1, DPM2, DPM3, DAG1, FKTN, FKRP, GMPPB, ITGA7, ITGA9, ISPD, LAMA2 |