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 DNMT3A gene DNMT3A Expert Review Green;Literature;NHS GMS Inherited phaeochromocytoma and paraganglioma excluding NF1 Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heyn-Sproul-Jackson syndrome, OMIM:618724 29740169;33182397;39166703 False 3 100;0;0 3.10 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000119772 ENSG00000119772 HGNC:2978 FH gene FH Expert Review Green;NHS GMS Inherited phaeochromocytoma and paraganglioma excluding NF1 Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PCC/PGL;HLRCC 23707781;24334767 False 3 100;0;0 3.10 True ENSG00000091483 ENSG00000091483 HGNC:3700 MAX gene MAX Expert Review Green;NHS GMS Inherited phaeochromocytoma and paraganglioma excluding NF1 Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Pheochromocytoma, susceptibility to}, OMIM:171300;Hereditary Paraganglioma-Pheochromocytoma Syndrome PubMed: 21685915;22429592 False 3 100;0;0 3.10 True ENSG00000125952 ENSG00000125952 HGNC:6913 MEN1 gene MEN1 Expert Review Green;NHS GMS Inherited phaeochromocytoma and paraganglioma excluding NF1 Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple endocrine neoplasia type 1 (MEN1);Multiple Endocrine Neoplasia False 3 100;0;0 3.10 True ENSG00000133895 ENSG00000133895 HGNC:7010 RET gene RET Expert Review Green;NHS GMS Inherited phaeochromocytoma and paraganglioma excluding NF1 Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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;Multiple Endocrine Neoplasia False 3 100;0;0 3.10 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;NHS GMS Inherited phaeochromocytoma and paraganglioma excluding NF1 Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paragangliomas 5, OMIM:614165 False 3 100;0;0 3.10 True ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF2 gene SDHAF2 Expert Review Green;NHS GMS Inherited phaeochromocytoma and paraganglioma excluding NF1 Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Paragangliomas 2, 601650;Hereditary Paraganglioma-Pheochromocytoma Syndrome False 3 100;0;0 3.10 True ENSG00000167985 ENSG00000167985 HGNC:26034 SDHB gene SDHB Expert Review Green;NHS GMS Inherited phaeochromocytoma and paraganglioma excluding NF1 Endocrinology 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 3.10 True ENSG00000117118 ENSG00000117118 HGNC:10681 SDHC gene SDHC Expert Review Green;NHS GMS Inherited phaeochromocytoma and paraganglioma excluding NF1 Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary Paraganglioma-Pheochromocytoma Syndrome;Paragangliomas 3, 605373Paraganglioma and gastric stromal sarcoma, 606864Gastrointestinal stromal tumor, 606764 False 3 100;0;0 3.10 True ENSG00000143252 ENSG00000143252 HGNC:10682 SDHD gene SDHD Expert Review Green;NHS GMS Inherited phaeochromocytoma and paraganglioma excluding NF1 Endocrinology MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Hereditary Paraganglioma-Pheochromocytoma Syndrome;Paragangliomas 1, with or without deafness, 168000Pheochromocytoma, 171300Carcinoid tumors, intestinal, 114900Merkel cell carcinoma, somaticParaganglioma and gastric stromal sarcoma, 606864Cowden syndrome 3, 615106 False 3 100;0;0 3.10 True ENSG00000204370 ENSG00000204370 HGNC:10683 TMEM127 gene TMEM127 Expert Review Green;NHS GMS Inherited phaeochromocytoma and paraganglioma excluding NF1 Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Pheochromocytoma, susceptibility to}, 171300 False 3 100;0;0 3.10 True ENSG00000135956 ENSG00000135956 HGNC:26038 VHL gene VHL Expert Review Green;NHS GMS Inherited phaeochromocytoma and paraganglioma excluding NF1 Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pheochromocytoma, OMIM:171300;von Hippel-Lindau syndrome, OMIM:193300 22429592 False 3 100;0;0 3.10 True ENSG00000134086 ENSG00000134086 HGNC:12687 EPAS1 gene EPAS1 Expert list;Expert Review Amber Inherited phaeochromocytoma and paraganglioma excluding NF1 Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Erythrocytosis, familial, 4, OMIM:611783 22931260;23418310;33300499 False 2 0;100;0 3.10 False ENSG00000116016 ENSG00000116016 HGNC:3374 PRKAR1A gene PRKAR1A Expert Review Amber;NHS GMS Inherited phaeochromocytoma and paraganglioma excluding NF1 Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Endocrine Cancer;Carney complex False 2 0;100;0 3.10 True ENSG00000108946 ENSG00000108946 HGNC:9388 NF1 gene NF1 Expert list;Expert Review Red Inherited phaeochromocytoma and paraganglioma excluding NF1 Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NF1 22429592;16735498 False 1 100;0;0 3.10 False ENSG00000196712 ENSG00000196712 HGNC:7765