Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ABCC8 gene ABCC8 Expert list;Expert Review Green;NHS GMS Pulmonary arterial hypertension Respiratory MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diabetes mellitus;Hypoglycaemia;Pulmonary arterial hypertension 31406341;30354297;32934261 False 3 100;0;0 4.5 False ENSG00000006071 ENSG00000006071 HGNC:59 ACVRL1 gene ACVRL1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Literature;NHS GMS;UKGTN Pulmonary arterial hypertension Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Telangiectasia, hereditary hemorrhagic, type 2, 600376;Heritable pulmonary arterial hypertension;HPAH 14684682;1270060;20301658;24951762;18159113;10903931;20056902;15146475;11115378;11015450;15687131;15965979;16429403;18159113;18503968;18356561;21737554;16717148;18496036;19785764;21801371;22632830;23298310;26387786;26699722 False 3 100;0;0 4.5 False ENSG00000139567 ENSG00000139567 HGNC:175 ATP13A3 gene ATP13A3 Expert Review Green;Literature;NHS GMS Pulmonary arterial hypertension Respiratory BIALLELIC, autosomal or pseudoautosomal Pulmonary hypertension, primary, 5, OMIM:265400;pulmonary hypertension, primary, autosomal recessive, MONDO:0009935 29650961;30545973;34493544 False 3 100;0;0 4.5 False ENSG00000133657 ENSG00000133657 HGNC:24113 BMPR2 gene BMPR2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Literature;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Pulmonary arterial hypertension Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pulmonary hypertension, familial primary, 1, with or without HHT, 178600;Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600;Idiopathic pulmonary arterial hypertension;IPAH;Heritable pulmonary arterial hypertension;HPAH;Pulmonary arterial hypertension;Pulmonary venoocclusive disease 1, 265450;PVOD 25917481;12446270;16429395;18626305;10973254;11015450;12358323;20301658;24951762;10973254;28507310;21898662;26387786;18159113;28388887;26699722 False 3 100;0;0 4.5 False ENSG00000204217 ENSG00000204217 HGNC:1078 EIF2AK4 gene EIF2AK4 Expert list;Expert Review Green;Literature;NHS GMS Pulmonary arterial hypertension Respiratory BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pulmonary venoocclusive disease 2, OMIM:234810;PVOD;pulmonary capillary hemangiomatosis;PCH;Heritable pulmonary arterial hypertension;HPAH;Pulmonary arterial hypertension;Idiopathic pulmonary arterial hypertension;IPAH 25512148;25917481;24135949;24292273;27809840;26320113;26387786;27884767;27694411;28087361;28087362;28972005;29844075;32631303 False 3 100;0;0 4.5 False ENSG00000128829 ENSG00000128829 HGNC:19687 ENG gene ENG Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Literature;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Pulmonary arterial hypertension Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Telangiectasia, hereditary hemorrhagic, type 1, 187300;Heritable pulmonary arterial hypertension;HPAH;Hereditary hemorrhagic telangiectasia;HHT 22632830;7894484;15024723;16542389;9366572;9245986;15951283;24355637;16752392;17641482;26387786;26699722 False 3 100;0;0 4.5 False ENSG00000106991 ENSG00000106991 HGNC:3349 GDF2 gene GDF2 Expert Review Green;Literature;NHS GMS Pulmonary arterial hypertension Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heritable pulmonary arterial hypertension;HPAH 29650961;26801773 False 3 100;0;0 4.5 False ENSG00000128802 ENSG00000263761 HGNC:4217 KCNK3 gene KCNK3 Expert list;Expert Review Green;Literature;NHS GMS Pulmonary arterial hypertension Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pulmonary hypertension, primary, 4, OMIM:615344 20301658;24951762;24355637;23883380;26387786;27884767;28388887 False 3 100;0;0 4.5 False ENSG00000171303 ENSG00000171303 HGNC:6278 KDR gene KDR Expert list;Expert Review Green Pulmonary arterial hypertension Respiratory MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heritable pulmonary arterial hypertension, MONDO:0017148 31980491;32880713;33320693;29650961 False 3 75;25;0 4.5 False ENSG00000128052 ENSG00000128052 HGNC:6307 SARS2 gene SARS2 Expert Review Green;NHS GMS Pulmonary arterial hypertension Respiratory BIALLELIC, autosomal or pseudoautosomal False 3 67;33;0 4.5 False ENSG00000104835 ENSG00000104835 HGNC:17697 SMAD9 gene SMAD9 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Literature;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Pulmonary arterial hypertension Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Idiopathic pulmonary arterial hypertension;IPAH;Heritable pulmonary arterial hypertension;HPAH;Pulmonary arterial hypertension;Pulmonary hypertension, primary, 2, 615342 20301658;21920918;19419974;19211612;21898662;24355637;26387786 False 3 100;0;0 4.5 False ENSG00000120693 ENSG00000120693 HGNC:6774 SOX17 gene SOX17 Expert Review Green;Literature;NHS GMS Pulmonary arterial hypertension Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heritable pulmonary arterial hypertension;HPAH 29650961;30029678;30044643 False 3 100;0;0 4.5 False ENSG00000164736 ENSG00000164736 HGNC:18122 TBX4 gene TBX4 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;NHS GMS;Radboud University Medical Center, Nijmegen Pulmonary arterial hypertension Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891 23592887;27587546;27694411;35852389 False 3 100;0;0 4.5 False ENSG00000121075 ENSG00000121075 HGNC:11603 AQP1 gene AQP1 Expert Review Amber;Literature;NHS GMS Pulmonary arterial hypertension Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heritable pulmonary arterial hypertension, HPAH, MONDO:0017148 29650961 False 2 33;67;0 4.5 False ENSG00000240583 ENSG00000240583 HGNC:633 CAPNS1 gene CAPNS1 Expert Review Amber;Literature Pulmonary arterial hypertension Respiratory BIALLELIC, autosomal or pseudoautosomal Pulmonary hypertension, primary, 6, OMIM:620777 21972389;38230350 False 2 100;0;0 4.5 False ENSG00000126247 ENSG00000126247 HGNC:1481 CAV1 gene CAV1 Emory Genetics Laboratory;Expert list;Expert Review Amber;Literature;NHS GMS;Radboud University Medical Center, Nijmegen Pulmonary arterial hypertension Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pulmonary hypertension, primary, 3, 615343;Heritable pulmonary arterial hypertension;HPAH;Pulmonary arterial hypertension 25917481;11498544;12177436;19487814;20301658;22474227;26387786;27717241;29650961 False 2 50;50;0 4.5 False ENSG00000105974 ENSG00000105974 HGNC:1527 NFU1 gene NFU1 Expert Review Amber;Literature Pulmonary arterial hypertension Respiratory BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711;Pulmonary hypertension in early infancy 22077971;25918518;28470589;31516295;32669393;31461310 False 2 50;50;0 4.5 False ENSG00000169599 ENSG00000169599 HGNC:16287 BMPR1B gene BMPR1B Expert Review Red;Literature Pulmonary arterial hypertension Respiratory Unknown Idiopathic pulmonary arterial hypertension; IPAH 20301658; 22374147 False 1 0;100;0 4.5 False ENSG00000138696 ENSG00000138696 HGNC:1077 CBLN2 gene CBLN2 Literature Pulmonary arterial hypertension Respiratory Unknown 23502781 False 1 0;0;100 4.5 False ENSG00000141668 ENSG00000141668 HGNC:1544 KCNA5 gene KCNA5 Literature Pulmonary arterial hypertension Respiratory Unknown Idiopathic pulmonary arterial hypertension; IPAH 26387786;17267549;25189502;26387786;19223935;17641158;26167679 False 1 0;0;100 4.5 False ENSG00000130037 ENSG00000130037 HGNC:6224 SMAD1 gene SMAD1 Expert list;Literature Pulmonary arterial hypertension Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Idiopathic pulmonary arterial hypertension; IPAH; heritable pulmonary arterial hypertension; HPAH 21898662;23478097;24355637;24959202;26387786;29650961 False 1 50;0;50 4.5 False ENSG00000170365 ENSG00000170365 HGNC:6767 SMAD4 gene SMAD4 Expert list;Literature Pulmonary arterial hypertension Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Idiopathic pulmonary arterial hypertension;IPAH;Heritable pulmonary arterial hypertension;HPAH;Pulmonary arterial hypertension;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 21898662;24355637;26387786;29650961 False 1 50;0;50 4.5 False ENSG00000141646 ENSG00000141646 HGNC:6770