Clinical Validity Classification Summaries

 

 

HGNC Gene Symbol Disease curated Orphanet ID OMIM ID Clinical Validity Classification
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 - 03/01/2017
ARSD Chondrodysplasia punctata N/A N/A No Reported Evidence - 11/15/2016
ATF6 Achromatopsia ORPHA49382 616517 Strong - 11/16/2016
BAG3 Myofibrillar Myopathy ORPHA593 612954 Definitive - 12/18/2016
C1QB Immunodeficiency due to an early component of complement deficiency ORPHA169147 613652 Definitive - 01/09/2017
CD3E Severe combined immunodeficiency ORPHA183660 615615 Definitive - 01/09/2017
CDH23 Usher syndrome type 1 ORPHA231169 276900 Definitive - 01/30/2017
CHD1L Renal or urinary tract malformation (CAKUT) ORPHA93545 N/A Limited - 11/18/2016
COL2A1 Spondyloepiphyseal dysplasia (Stanescu type) N/A 616583 Moderate - 12/01/2016
DICER1 Pleuropulmonary blastoma ORPHA64742 601200 Definitive - 01/08/2017
DMXL2 Sensorineural hearing loss ORPHA90636 612186 Moderate - 03/01/2017
DNMT1 DNMT1 methylopathy ORPHA314404 604121 Definitive - 03/01/2017
FAM65B Sensorineural hearing loss ORPHA90636 616515 Strong - 03/01/2017
FGFR3 Achondroplasia ORPHA15 100800 Definitive - 12/01/2016
HNRNPK Au-Kline Syndrome ORPHA453499 616580 Moderate - 11/15/2016
LAMB1 Lissencephaly ORPHA352682 615191 Moderate - 11/15/2016
LBR Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia ORPHA448267 N/A Moderate - 12/01/2016
LRTOMT Sensorineural hearing loss ORPHA90636 611451 Definitive - 02/15/2017
MYO9A Arthrogryposis ORPHA109007 N/A Limited - 11/24/2016
NGLY1 Alacrimia-choreoathetosis-liver dysfunction syndrome ORPHA404454 615273 Definitive - 12/01/2016
NHP2 Dyskeratosis Congenita ORPHA1775 613987 Limited - 01/25/2017
OTOF 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
PMS2 Pancreatic cancer N/A N/A No Reported Evidence - 12/01/2016
PSD3 Antecubital pterygium syndrome ORPHA2987 178200 Limited - 11/24/2016
RAD51C Fanconi anemia ORPHA84 613390 Moderate - 01/05/2017
RAD51D Hereditary breast cancer ORPHA227535 614291 Limited - 12/01/2016
RPS10 Diamond-Blackfan anemia ORPHA124 613308 Definitive - 01/19/2017
RPS24 Diamond-Blackfan anemia ORPHA124 610629 Definitive - 01/19/2017
SCN4B Long QT Syndrome ORPHA768 611819 Limited - 12/15/2016
SKI Shprintzen-Goldberg syndrome ORPHA2462 182212 Definitive - 12/01/2016
SMAD3 Aneurysm-osteoarthritis syndrome ORPHA284984 613795 Definitive - 12/01/2016
SMARCA1 Coffin-Siris syndrome ORPHA:1465 N/A Moderate - 11/15/2016
SOS2 Noonan syndrome ORPHA648 616559 Moderate - 12/05/2016
TMC1 Sensorineural hearing loss ORPHA90636 600974 Definitive - 02/15/2017
TMPO Familial or idiopathic dilated cardiomyopathy ORPHA154 613740 Contradictory (refuted) - 11/30/2016
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
VPS8 Arthrogryposis ORPHA1037 108120 Limited - 11/24/2016
WRAP53 Dyskeratosis Congenita ORPHA1775 613988 Moderate - 01/25/2017
*Final classification upgraded after expert review