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 GABRG2 gene GABRG2 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Genetic Epilepsies with Febrile Seizures Plus (GEFS+) Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Generalized Epilepsy with Febrile Seizures Plus;Epilepsy, generalized, with febrile seizures plus, type 3;Febrile seizures, familial, 8;611277 27066572;11326275;11326274 False 3 100;0;0 1.10 False ENSG00000113327 ENSG00000113327 HGNC:4087 SCN1A gene SCN1A Eligibility statement exclusion criteria;Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Genetic Epilepsies with Febrile Seizures Plus (GEFS+) Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, generalized, with febrile seizures plus, type 2;Febrile seizures, familial, 3A;Generalized Epilepsy With Febrile Seizures Plus, Type 2;GEFSP2;604403 10742094 False 3 100;0;0 1.10 True ENSG00000144285 ENSG00000144285 HGNC:10585 SCN1B gene SCN1B Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Genetic Epilepsies with Febrile Seizures Plus (GEFS+) Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Generalized Epilepsy with Febrile Seizures Plus; Epilepsy, generalized, with febrile seizures plus, type 1 False 3 100;0;0 1.10 True ENSG00000105711 ENSG00000105711 HGNC:10586 ADGRV1 gene ADGRV1 Expert Review Red;Radboud University Medical Center, Nijmegen Genetic Epilepsies with Febrile Seizures Plus (GEFS+) Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders Febrile seizures, familial, 4, 604352Usher syndrome, type 2C, 605472Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 False 1 0;0;0 1.10 True ENSG00000164199 ENSG00000164199 HGNC:17416 CPA6 gene CPA6 Expert Review Red;Radboud University Medical Center, Nijmegen Genetic Epilepsies with Febrile Seizures Plus (GEFS+) Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders Febrile seizures, familial, 11; Epilepsy, familial temporal lobe, 5 False 1 0;0;0 1.10 True ENSG00000165078 ENSG00000165078 HGNC:17245 SCN9A gene SCN9A Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Genetic Epilepsies with Febrile Seizures Plus (GEFS+) Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, generalized, with febrile seizures plus, type 7;Febrile seizures, familial, 3B; Familial Febrile Seizures; Generalized Epilepsy with Febrile Seizures Plus False 1 0;0;0 1.10 True ENSG00000169432 ENSG00000169432 HGNC:10597