Clinical Validity Classification Summaries

 

 

HGNC Gene Symbol Disease curated Orphanet ID OMIM ID Clinical Validity Classification
ACTA2 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 102620 Definitive - 09/27/2016
ACTC1 Hypertrophic cardiomyopathy ORPHA217569 612098 Definitive - 10/23/2017
ADCY1 Nonsyndromic sensorineural hearing loss ORPHA90636 610154 Limited - 05/10/2017
ADGRV1 Usher syndrome type 2 ORPHA231178 605472 Definitive - 02/15/2017
AGTR2 X-linked non-syndromic intellectual disability ORPHA777 N/A Contradictory (disputed) - 11/16/2016
AKAP9 Long QT syndrome ORPHA101016 611820 Limited - 12/15/2016
ALMS1 Alstrom syndrome ORPHA64 203800 Definitive - 02/10/2017
ALPK3 Hypertrophic cardiomyopathy (recessive) ORPHA217569 617608 Strong* - 02/07/2017
ARSD Chondrodysplasia punctata N/A N/A No Reported Evidence - 11/15/2016
ATF6 Achromatopsia ORPHA49382 616517 Strong - 11/16/2016
AXIN2 Hereditary colorectal cancer ORPHA:443909 604025 Moderate - 06/08/2017
BAG3 Myofibrillar Myopathy ORPHA593 612954 Definitive - 12/18/2016
BAP1 Hereditary pheochromocytoma-paraganglioma 29072 603089 Limited - 07/22/2017
BARD1 Colorectal cancer ORPHA443909 601593 Limited - 06/08/2017
BGN Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 301870 Limited - 12/22/2016
C1QB Immunodeficiency due to an early component of complement deficiency ORPHA169147 613652 Definitive - 01/09/2017
CALR3: Hypertrophic cardiomyopathy N/A 611414 Limited - 02/07/2017
CD3E Severe combined immunodeficiency ORPHA183660 615615 Definitive - 01/09/2017
CDH1 Hereditary colorectal cancer ORPHA443909 192090 Limited - 06/08/2017
CDH1 Hereditary breast cancer ORPHA227535 192090 Definitive - 08/03/2017
CDH1 Familial ovarian cancer ORPHA213517 192090 No Reported Evidence - 08/03/2017
CDH23 Usher syndrome type 1 ORPHA231169 276900 Definitive - 01/30/2017
CDKN1B Hereditary colorectal cancer ORPHA454840 600778 Limited - 06/08/2017
CEP78 Cone-rod dystrophy and hearing loss N/A 617236 Strong - 04/12/2017
CHD1L Renal or urinary tract malformation (CAKUT) ORPHA93545 N/A Limited - 11/18/2016
CHEK1 Familial ovarian cancer ORPHA213517 603078 No Reported Evidence - 10/12/2016
CHEK1 Hereditary breast cancer ORPHA227535 603078 No Reported Evidence - 10/12/2016
CHEK2 Hereditary breast cancer ORPHA227535 604373 Definitive - 12/14/2016
CHEK2 Familial ovarian cancer ORPHA213517 604373 Contradictory (disputed) - 12/14/2016
CLRN1 Usher syndrome type 3 231183 606397 Definitive - 03/02/2017
COL2A1 Spondyloepiphyseal dysplasia (Stanescu type) N/A 616583 Moderate - 12/01/2016
COL3A1 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 120180 Definitive - 03/14/2016
COX15 Leigh syndrome ORPHA506 256000 Strong -
CRYM Nonsyndromic sensorineural hearing loss ORPHA90635 616357 Limited - 04/12/2017
DICER1 Pleuropulmonary blastoma ORPHA64742 601200 Definitive - 01/08/2017
DMXL2 Nonsyndromic sensorineural hearing loss ORPHA90636 612186 Moderate - 02/06/2017
DNM1 Early infantile epileptic encephalopathy ORPHA1934 602377 Definitive - 12/13/2016
DNMT1 DNMT1 methylopathy ORPHA314404 604121 Definitive - 02/10/2017
EFEMP2 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 604633 Moderate - 12/22/2016
EGLN1 Hereditary pheochromocytoma-paraganglioma 29072 606425 Moderate - 06/22/2017
EGLN2 Hereditary pheochromocytoma-paraganglioma 29072 606424 Limited - 06/22/2017
ELMOD3 Nonsyndromic sensorineural hearing loss 90636 615429 Limited - 05/04/2017
EPAS1 Hereditary pheochromocytoma-paraganglioma 29072 603349 Contradictory (disputed) - 06/22/2017
EPCAM Hereditary breast cancer ORPHA227535 185535 No Reported Evidence - 04/12/2017
EPCAM Familial ovarian cancer ORPHA213517 185535 No Reported Evidence - 04/12/2017
EPHX1 Hereditary colorectal cancer ORPHA443909 132810 Limited - 06/08/2017
EXO1 Hereditary colorectal cancer ORPHA443909 606063 Limited - 06/08/2017
FAM65B Nonsyndromic sensorineural hearing loss ORPHA90636 616515 Strong - 02/06/2017
FBN1 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 134797 Definitive - 01/23/2017
FBN2 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 612570 Limited - 12/22/2016
FGFR3 Achondroplasia ORPHA15 100800 Definitive - 12/01/2016
FH Hereditary pheochromocytoma-paraganglioma 29072 136850 Moderate - 06/22/2017
FLNA Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 300017 Limited - 12/22/2016
FOXE3 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 601094 Moderate - 06/15/2016
GALNT12 Hereditary colorectal cancer ORPHA443909 608812 Limited - 06/08/2017
GDNF Hereditary pheochromocytoma-paraganglioma 29072 600837 Limited - 07/22/2017
GEN1 Familial ovarian cancer ORPHA213517 612449 No Reported Evidence - 01/11/2017
GJB2 Nonsyndromic sensorineural hearing loss 90636 220290 Definitive - 03/02/2017
GREM1 Hereditary Mixed Polyposis ORPHA363314 603054 Strong* - 06/08/2017
GRIN1 Early infantile epileptic encephalopathy ORPHA1934 138249 Definitive - 12/13/2016
HCN4 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 605206 Limited - 12/22/2016
HNRNPK Au-Kline Syndrome ORPHA453499 616580 Moderate - 11/15/2016
JPH2 Hypertrophic cardiomyopathy N/A 613873 Moderate - 07/18/2017
KIF1B Hereditary pheochromocytoma-paraganglioma 29072 605995 Limited - 06/22/2017
KLF10 Hypertrophic cardiomyopathy ORPHA217569 N/A Limited - 08/01/2017
KMT2D Hereditary pheochromocytoma-paraganglioma 29072 602113 Limited - 06/22/2017
LAMB1 Lissencephaly ORPHA352682 615191 Moderate - 11/15/2016
LBR Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia ORPHA448267 N/A Moderate - 12/01/2016
LOX Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 153455 Strong - 07/25/2016
LRTOMT Nonsyndromic sensorineural hearing loss ORPHA90636 611451 Definitive - 02/15/2017
MAT2A Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 601468 Limited - 07/03/2016
MAX Hereditary pheochromocytoma-paraganglioma 29072 154950 Definitive - 06/22/2017
MCM2 Nonsyndromic sensorineural hearing loss ORPHA90635 616968 Limited - 03/29/2017
MCPH1 Hereditary breast cancer ORPHA227535 607117 Limited - 01/11/2017
MCPH1 Familial ovarian cancer ORPHA213517 607117 No Reported Evidence - 01/11/2017
MDH2 Hereditary pheochromocytoma-paraganglioma 29072 154100 Limited - 06/22/2017
MEN1 Hereditary pheochromocytoma-paraganglioma 29072 131100 Moderate - 06/22/2017
MERTK Hereditary pheochromocytoma-paraganglioma 29072 604705 Limited - 06/22/2017
MET Hereditary pheochromocytoma-paraganglioma 29072 164860 Limited - 06/02/2017
MFAP5 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 601103 Moderate - 12/22/2016
MITF Hereditary pheochromocytoma-paraganglioma 29072 156845 Limited - 06/22/2017
MLH1 Hereditary breast cancer ORPHA227535 120436 Contradictory (disputed) - 06/14/2017
MSH3 Hereditary polyposis ORPHA363314 600887 Moderate - 06/08/2017
MYH11 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 160745 Definitive - 07/03/2016
MYL2 Hypertrophic cardiomyopathy ORPHA217569 608758 Definitive - 02/07/2017
MYL3 Hypertrophic cardiomyopathy ORPHA217569 608751 Definitive - 10/04/2016
MYLK Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 600922 Strong - 12/18/2016
MYO9A Arthrogryposis ORPHA109007 N/A Limited - 11/24/2016
MYOM1 Hypertrophic cardiomyopathy N/A 603508 Limited - 06/20/2017
MYOZ2 Hypertrophic cardiomyopathy N/A 605602 Limited - 06/20/2017
NEXN Hypertrophic cardiomyopathy ORPHA217569 613876 Limited - 11/01/2016
NF1 Hereditary pheochromocytoma-paraganglioma 29072 162200 Definitive - 06/22/2017
NF2 Neurofibromatosis, Type 2 N/A 101000 Definitive - 03/01/2017
NGLY1 Alacrimia-choreoathetosis-liver dysfunction syndrome ORPHA404454 615273 Definitive - 12/01/2016
NHP2 Dyskeratosis Congenita ORPHA1775 613987 Limited - 01/25/2017
NOTCH1 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 190198 Limited - 04/06/2016
NTHL1 Hereditary colorectal cancer ORPHA:443909 602656 Moderate - 06/08/2017
OBSCN Hypertrophic cardiomyopathy N/A 608616 Limited - 02/07/2017
OTOF Nonsyndromic sensorineural hearing loss (auditory neuropathy) ORPHA90636 601071 Definitive - 01/30/2017
PALB2 Hereditary breast cancer ORPHA227535 114480 Definitive - 12/01/2016
PCDH15 Usher syndrome type 1 ORPHA231169 602083 Definitive - 02/15/2017
PDLIM3 Hypertrophic cardiomyopathy N/A 605889 Limited - 11/01/2016
PDZD7 Nonsyndromic sensorineural hearing loss ORPHA90636 612971 Definitive - 04/26/2017
PIK3CA Hereditary breast cancer ORPHA227535 171834 No Reported Evidence - 02/08/2017
PIK3CA Familial ovarian cancer ORPHA213517 171834 No Reported Evidence - 02/08/2017
PKP2 Arrhythmogenic Right Ventricular Cardiomyopathy N/A 609040 Definitive - 03/08/2017
PLN Intrinsic cardiomyopathy ORPHA167848 115196 Definitive - 09/19/2017
PMS2 Pancreatic cancer N/A N/A No Reported Evidence - 12/01/2016
PNPT1 Nonsyndromic sensorineural hearing loss ORPHA90636 614934 Limited - 02/23/2017
POLD1 Hereditary colorectal cancer ORPHA:443909 174761 Strong - 06/08/2017
POLE Hereditary colorectal cancer ORPHA:443909 174762 Definitive - 06/08/2017
PRKG1 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 176894 Strong - 12/22/2016
PSD3 Antecubital pterygium syndrome ORPHA2987 178200 Limited - 11/24/2016
PTPRQ Nonsyndromic sensorineural hearing loss ORPHA90636 603317 Definitive - 02/23/2017
RAD50 Hereditary breast cancer ORPHA227535 604040 Limited - 12/14/2016
RAD51C Fanconi anemia ORPHA84 613390 Moderate - 01/05/2017
RAD51C Hereditary breast cancer ORPHA227535 602774 Contradictory (disputed) - 05/10/2017
RAD51C Familial ovarian cancer ORPHA213517 602774 Definitive - 04/12/2017
RAD51D Hereditary breast cancer ORPHA227535 614291 Limited - 12/01/2016
RAF1 Noonan syndrome with multiple lentigines ORPHA500 611554 Moderate - 06/20/2017
RECQL Hereditary breast cancer ORPHA227535 600537 Moderate - 09/28/2016
RECQL Familial ovarian cancer ORPHA213517 600537 No Reported Evidence - 09/14/2016
RET Hereditary pheochromocytoma-paraganglioma 29072 164761 Definitive - 06/22/2017
RINT1 Hereditary breast cancer ORPHA227535 610089 Contradictory (disputed) - 09/26/2016
RINT1 Familial ovarian cancer ORPHA213517 610089 No Reported Evidence - 09/14/2016
RPS10 Diamond-Blackfan anemia ORPHA124 613308 Definitive - 01/19/2017
RPS20 Hereditary colorectal cancer ORPHA443909 608812 Limited - 06/08/2017
RPS24 Diamond-Blackfan anemia ORPHA124 610629 Definitive - 01/19/2017
RYR2 Catecholaminergic Polymorphic Ventricular Tachycardia N/A 604772 Definitive - 03/08/2017
S1PR2 Nonsyndromic sensorineural hearing loss ORPHA90636 610419 Strong - 03/02/2017
SCN4B Long QT Syndrome ORPHA768 611819 Limited - 12/15/2016
SDHA Hereditary pheochromocytoma-paraganglioma 29072 600857 Definitive - 06/22/2017
SDHAF2 Hereditary pheochromocytoma-paraganglioma 29072 613019 Definitive - 06/22/2017
SDHB Hereditary pheochromocytoma-paraganglioma 29072 185470 Definitive - 06/22/2017
SDHC Hereditary pheochromocytoma-paraganglioma 29072 602413 Definitive - 06/22/2017
SDHD Hereditary pheochromocytoma-paraganglioma 29072 602690 Definitive - 06/22/2017
SKI Shprintzen-Goldberg syndrome ORPHA2462 182212 Definitive - 12/01/2016
SLC2A10 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 606145 Limited - 04/17/2016
SLX4 Familial ovarian cancer ORPHA213517 114480 No Reported Evidence - 03/08/2017
SMAD2 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 601366 Limited - 12/22/2016
SMAD3 Aneurysm-osteoarthritis syndrome ORPHA284984 613795 Definitive - 12/01/2016
SMAD3 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 603109 Definitive - 12/22/2016
SMARCA1 Coffin-Siris syndrome ORPHA:1465 N/A Moderate - 11/15/2016
SOS2 Noonan syndrome ORPHA648 616559 Moderate - 12/05/2016
STK11 Familial ovarian cancer ORPHA213517 602216 No Reported Evidence - 10/26/2016
TCAP Hypertrophic cardiomyopathy ORPHA217569 607487 Limited - 04/10/2017
TGFB2 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 190220 Definitive - 05/06/2016
TGFB3 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 190230 Limited - 12/22/2016
TGFBR1 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 190181 Definitive - 10/12/2016
TGFBR2 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 190182 Definitive - 02/15/2016
TMC1 Nonsyndromic sensorineural hearing loss ORPHA90636 600974 Definitive - 02/15/2017
TMEM127 Hereditary pheochromocytoma-paraganglioma 29072 613403 Definitive - 06/22/2017
TMPO Familial or idiopathic dilated cardiomyopathy ORPHA154 613740 Contradictory (refuted) - 11/30/2016
TNNC1 Hypertrophic cardiomyopathy ORPHA217569 613243 Moderate - 11/01/2016
TNNC2 Hypertrophic cardiomyopathy ORPHA217569 191039 No Reported Evidence - 04/04/2017
TNNI3 Hypertrophic cardiomyopathy ORPHA217569 613690 Definitive - 09/05/2017
TNNT2 Hypertrophic cardiomyopathy ORPHA217569 115195 Definitive - 11/07/2017
TPM1 Hypertrophic cardiomyopathy ORPHA217569 115196 Definitive - 12/20/2016
TRIM63 Hypertrophic cardiomyopathy N/A 606131 Limited - 12/20/2016
TSC1 Tuberous sclerosis N/A 191100 Definitive - 03/01/2017
TSC2 Tuberous sclerosis N/A 191100 Definitive - 03/08/2017
USH1C Usher syndrome type 1 ORPHA231169 276904 Definitive - 02/15/2017
USH1G Usher syndrome type 1 ORPHA231169 606943 Definitive - 02/15/2017
USH2A Usher syndrome type 2 ORPHA231178 276901 Definitive - 02/15/2017
VCL Hypertrophic cardiomyopathy ORPHA217569 613255 Limited - 06/01/2017
VHL Hereditary pheochromocytoma-paraganglioma 29072 608537 Definitive - 06/16/2017
VPS8 Arthrogryposis ORPHA1037 108120 Limited - 11/24/2016
WHRN Usher syndrome type 2 ORPHA231178 611383 Definitive - 05/10/2017
WRAP53 Dyskeratosis Congenita ORPHA1775 613988 Moderate - 01/25/2017
XRCC2 Familial ovarian cancer ORPHA213517 600375 No Reported Evidence - 04/26/2017
*Final classification upgraded after expert review