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 FH gene FH Expert Review;Expert Review Green Inherited phaeochromocytoma and paraganglioma Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PCC/PGL; HLRCC 24334767;23707781 False 3 100;0;0 1.12 True ENSG00000091483 ENSG00000091483 HGNC:3700 MAX gene MAX Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Inherited phaeochromocytoma and paraganglioma Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted pheochromocytomas (PHEOs), paragangliomas (PGLs);Hereditary Paraganglioma-Pheochromocytoma Syndrome;{Pheochromocytoma, susceptibility to}, 171300 PubMed: 21685915;22429592 False 3 100;0;0 1.12 True ENSG00000125952 ENSG00000125952 HGNC:6913 MEN1 gene MEN1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Inherited phaeochromocytoma and paraganglioma Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple Endocrine Neoplasia;Multiple endocrine neoplasia type 1 (MEN1) False 3 100;0;0 1.12 True ENSG00000133895 ENSG00000133895 HGNC:7010 NF1 gene NF1 Expert Review Green;UKGTN Inherited phaeochromocytoma and paraganglioma Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted NF1 22429592;16735498;UKGTN False 3 100;0;0 1.12 True ENSG00000196712 ENSG00000196712 HGNC:7765 PRKAR1A gene PRKAR1A Emory Genetics Laboratory;Expert Review Green;UKGTN Inherited phaeochromocytoma and paraganglioma Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Endocrine Cancer;Carney complex False 3 0;100;0 1.12 True ENSG00000108946 ENSG00000108946 HGNC:9388 RET gene RET Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Inherited phaeochromocytoma and paraganglioma Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple Endocrine Neoplasia;Multiple endocrine neoplasia IIA, 171400Medullary thyroid carcinoma, 155240Multiple endocrine neoplasia IIB, 162300Central hypoventilation syndrome, congenital, 209880Pheochromocytoma, 171300Renal agenesis, 191830{Hirschsprung disease, susceptibility to, 1}, 142623 False 3 100;0;0 1.12 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000165731 ENSG00000165731 HGNC:9967 SDHA gene SDHA Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Inherited phaeochromocytoma and paraganglioma Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paragangliomas 5, OMIM:614165 False 3 100;0;0 1.12 True ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF2 gene SDHAF2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Inherited phaeochromocytoma and paraganglioma Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Paragangliomas 2, 601650;Hereditary Paraganglioma-Pheochromocytoma Syndrome False 3 100;0;0 1.12 True ENSG00000167985 ENSG00000167985 HGNC:26034 SDHB gene SDHB Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Inherited phaeochromocytoma and paraganglioma Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paragangliomas 4, OMIM:115310;Pheochromocytoma, OMIM:171300;Paraganglioma and gastric stromal sarcoma, OMIM:606864 False 3 100;0;0 1.12 True ENSG00000117118 ENSG00000117118 HGNC:10681 SDHC gene SDHC Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Inherited phaeochromocytoma and paraganglioma Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paragangliomas 3, 605373Paraganglioma and gastric stromal sarcoma, 606864Gastrointestinal stromal tumor, 606764;Hereditary Paraganglioma-Pheochromocytoma Syndrome False 3 100;0;0 1.12 True ENSG00000143252 ENSG00000143252 HGNC:10682 SDHD gene SDHD Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Inherited phaeochromocytoma and paraganglioma Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Paragangliomas 1, with or without deafness, 168000Pheochromocytoma, 171300Carcinoid tumors, intestinal, 114900Merkel cell carcinoma, somaticParaganglioma and gastric stromal sarcoma, 606864Cowden syndrome 3, 615106;Hereditary Paraganglioma-Pheochromocytoma Syndrome False 3 100;0;0 1.12 True ENSG00000204370 ENSG00000204370 HGNC:10683 TMEM127 gene TMEM127 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Inherited phaeochromocytoma and paraganglioma Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Pheochromocytoma, susceptibility to}, 171300 False 3 100;0;0 1.12 True ENSG00000135956 ENSG00000135956 HGNC:26038 VHL gene VHL Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Inherited phaeochromocytoma and paraganglioma Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pheochromocytoma, OMIM:171300;von Hippel-Lindau syndrome, OMIM:193300 22429592 False 3 100;0;0 1.12 True ENSG00000134086 ENSG00000134086 HGNC:12687 CDC73 gene CDC73 Emory Genetics Laboratory Inherited phaeochromocytoma and paraganglioma Breast and endocrine Tumour syndromes False 1 0;50;50 1.12 False ENSG00000134371 ENSG00000134371 HGNC:16783 CDKN1B gene CDKN1B Expert Review Red;Illumina TruGenome Clinical Sequencing Services Inherited phaeochromocytoma and paraganglioma Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Multiple Endocrine Neoplasia False 1 33;0;67 1.12 True ENSG00000111276 ENSG00000111276 HGNC:1785 GDNF gene GDNF Expert Review Red;Radboud University Medical Center, Nijmegen Inherited phaeochromocytoma and paraganglioma Breast and endocrine Tumour syndromes Central hypoventilation syndrome, 209880{Pheochromocytoma, modifier of}, 171300{Hirschsprung disease, susceptibility to, 3}, 613711 False 1 0;100;0 1.12 True ENSG00000168621 ENSG00000168621 HGNC:4232 KIF1B gene KIF1B Expert Review Red;Radboud University Medical Center, Nijmegen Inherited phaeochromocytoma and paraganglioma Breast and endocrine Tumour syndromes Charcot-Marie-Tooth disease, type 2A1, 118210Pheochromocytoma, 171300{Neuroblastoma, susceptibility to, 1}, 256700 False 1 0;50;50 1.12 True ENSG00000054523 ENSG00000054523 HGNC:16636 MDH2 gene MDH2 Expert Review Red;Literature Inherited phaeochromocytoma and paraganglioma Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PGL 25766404 False 1 100;0;0 1.12 True ENSG00000146701 ENSG00000146701 HGNC:6971 PTEN gene PTEN Emory Genetics Laboratory;Expert Review Red Inherited phaeochromocytoma and paraganglioma Breast and endocrine Tumour syndromes False 1 0;0;100 1.12 True ENSG00000171862 ENSG00000171862 HGNC:9588 TP53 gene TP53 Emory Genetics Laboratory;Expert Review Red Inherited phaeochromocytoma and paraganglioma Breast and endocrine Tumour syndromes False 1 0;0;100 1.12 True ENSG00000141510 ENSG00000141510 HGNC:11998