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 DUSP6 gene DUSP6 Expert Review Red;OMIM;Radboud University Medical Center, Nijmegen Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism 19 with or without anosmia, 615269 23643382 False 1 75;0;25 1.42 False ENSG00000139318 ENSG00000139318 HGNC:3072 FGF17 gene FGF17 Expert Review Red;Other;Radboud University Medical Center, Nijmegen Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Hypogonadotropic hypogonadism 20 with or without anosmia 615270" PMID: 23643382 False 1 0;0;0 1.42 False ENSG00000158815 ENSG00000158815 HGNC:3673 FLRT3 gene FLRT3 Expert Review Red;OMIM;Radboud University Medical Center, Nijmegen Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 21 with anosmia, 615271 23643382;21700882 False 1 75;0;25 1.42 False ENSG00000125848 ENSG00000125848 HGNC:3762 HESX1 gene HESX1 Expert Review Red Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Growth hormone deficiency with pituitary anomalies, OMIM:182230;Pituitary hormone deficiency, combined, 5, OMIM:182230;Septooptic dysplasia, OMIM:182230 23465708 False 1 100;0;0 1.42 False ENSG00000163666 ENSG00000163666 HGNC:4877 HFE2 gene HFE2 Expert Review Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal " Hemochromatosis 235200" False 1 100;0;0 1.42 False ENSG00000168509 ENSG00000168509 HGNC:4887 HS6ST1 gene HS6ST1 Expert Review Red;OMIM Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 15 with or without anosmia, 614880 21700882;26207952;23997646 False 1 100;0;0 1.42 False ENSG00000136720 ENSG00000136720 HGNC:5201 KISS1 gene KISS1 Emory Genetics Laboratory;Expert Review Red;OMIM;Radboud University Medical Center, Nijmegen Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 13 with or without anosmia, 614842; Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel (Emory) False 1 75;0;25 1.42 False ENSG00000170498 ENSG00000170498 HGNC:6341 LHCGR gene LHCGR Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Leydig cell hypoplasia with hypergonadotropic hypogonadism, Leydig cell hypoplasia with pseudohermaphroditism, Luteinizing hormone resistance,female, 238320; Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel; Leydig cell adenoma,somatic,with precocious puberty,176410 False 1 0;0;100 1.42 False ENSG00000138039 ENSG00000138039 HGNC:6585 LHX3 gene LHX3 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 3 221750 18407919 False 1 100;0;0 1.42 False ENSG00000107187 ENSG00000107187 HGNC:6595 NSMF gene NSMF Emory Genetics Laboratory;Expert Review Red;OMIM;Radboud University Medical Center, Nijmegen Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 9 with or without anosmia, OMIM:614838 15362570;17235395;21700882;27803842;21300340 False 1 100;0;0 1.42 False ENSG00000165802 ENSG00000165802 HGNC:29843 SEMA3A gene SEMA3A Expert list;Expert Review Red;Literature;OMIM;Other Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism 16 with or without anosmia, 614897 24522099;22927827 False 1 100;0;0 1.42 False ENSG00000075213 ENSG00000075213 HGNC:10723 SEMA3E gene SEMA3E Expert Review Red;Literature;Other;Radboud University Medical Center, Nijmegen Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome, 214800 25985275 False 1 100;0;0 1.42 False ENSG00000170381 ENSG00000170381 HGNC:10727 SEMA7A gene SEMA7A Expert Review Red;Literature Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders Unknown Congenital hypogonadotropic hypogonadism 24522099 False 1 0;0;0 1.42 False ENSG00000138623 ENSG00000138623 HGNC:10741 SOX3 gene SOX3 Expert list Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Panhypopituitarism, X-linked, OMIM:312000;Panhypopituitarism, X-linked, MONDO:0010712 False 1 0;100;0 1.42 False ENSG00000134595 ENSG00000134595 HGNC:11199