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 ANOS1 gene ANOS1 Expert list;Expert Review Green;OMIM;Other;Radboud University Medical Center, Nijmegen Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700" 25328414;23410897;20530987;26278626;25328414;23410897;20530987;26278626 False 3 100;0;0 1.42 False ENSG00000011201 ENSG00000011201 HGNC:6211 CHD7 gene CHD7 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;OMIM;Radboud University Medical Center, Nijmegen;UKGTN Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism 5 with or without anosmia,612370;CHARGE syndrome, 214800; Scoliosis, idiopathic 3, 608765 False 3 100;0;0 1.42 False ENSG00000171316 ENSG00000171316 HGNC:20626 CUL4B gene CUL4B Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354;XLMR with Short Stature, Small Testes, Muscle Wasting, and Tremor panel 24898194; 17236139; 25385192 False 3 0;0;0 1.42 False ENSG00000158290 ENSG00000158290 HGNC:2555 DCAF17 gene DCAF17 Expert Review Green;Literature Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Woodhouse-Sakati syndrome 241080" 20507343 False 3 100;0;0 1.42 False ENSG00000115827 ENSG00000115827 HGNC:25784 FEZF1 gene FEZF1 Expert Review Green;OMIM Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 22, with or without anosmia, 616030 25192046 False 3 100;0;0 1.42 False ENSG00000128610 ENSG00000128610 HGNC:22788 FGF8 gene FGF8 Emory Genetics Laboratory;Expert Review Green;OMIM;Radboud University Medical Center, Nijmegen Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 6 with or without anosmia, 612702;Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel (Emory) 18596921 False 3 100;0;0 1.42 False ENSG00000107831 ENSG00000107831 HGNC:3686 FGFR1 gene FGFR1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;OMIM;Radboud University Medical Center, Nijmegen;UKGTN Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 2 with or without anosmia, 147950; Beare-Stevenson Cutis Gyrata Syndrome, 123790; Crouzon Syndrome, 123500; Pfeiffer Syndrome, 101600; Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel (Emory); Pfeiffer syndrome, 101600; Jackson-Weiss syndrome, 123150; Osteoglophonic dysplasia, 166250; Trigonocephaly 1, 190440; Hartsfield syndrome, 615465; Nonsyndromic Trigonocephaly 17235395; 12627230 False 3 100;0;0 1.42 False ENSG00000077782 ENSG00000077782 HGNC:3688 FSHB gene FSHB Expert Review Green;Illumina TruGenome Clinical Sequencing Services;OMIM;Radboud University Medical Center, Nijmegen Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 24 without anosmia 229070;Isolated Follicle-Stimulating Hormone Deficiency 9806482;20488225;12161499 False 3 100;0;0 1.42 False ENSG00000131808 ENSG00000131808 HGNC:3964 GLI2 gene GLI2 Expert Review Green Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Culler-Jones syndrome, (includes hypogonadotropic hypogonadism) 615849; Holoprosencephaly-9, 610829 15994174; 20685856 False 3 100;0;0 1.42 False ENSG00000074047 ENSG00000074047 HGNC:4318 GNRH1 gene GNRH1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;OMIM;Radboud University Medical Center, Nijmegen Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 12 with or without anosmia 614841;Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel;Isolated GnRH Deficiency 26595427;23936060;22724017 False 3 100;0;0 1.42 False ENSG00000147437 ENSG00000147437 HGNC:4419 GNRHR gene GNRHR Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;OMIM;Radboud University Medical Center, Nijmegen Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 7 without anosmia, 146110;Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel;Isolated GnRH Deficiency 9425890 False 3 100;0;0 1.42 False ENSG00000109163 ENSG00000109163 HGNC:4421 HAMP gene HAMP Expert Review;Expert Review Green Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2B 613313 False 3 100;0;0 1.42 False ENSG00000105697 ENSG00000105697 HGNC:15598 HFE gene HFE Expert Review;Expert Review Green Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, OMIM:235200 False 3 100;0;0 1.42 False ENSG00000010704 ENSG00000010704 HGNC:4886 IL17RD gene IL17RD Expert Review Green;Literature;Other;Radboud University Medical Center, Nijmegen Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Hypogonadotropic hypogonadism 18 with or without anosmia 615267" 23643382 False 3 75;0;25 1.42 False ENSG00000144730 ENSG00000144730 HGNC:17616 KISS1R gene KISS1R Emory Genetics Laboratory;Expert list;Expert Review Green;Other;Radboud University Medical Center, Nijmegen Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 8 with or without anosmia, OMIM:614837;?Precocious puberty, central, 1, OMIM:176400 12944565;17164310;14573733;18772143;23643382 False 3 100;0;0 1.42 False ENSG00000116014 ENSG00000116014 HGNC:4510 KLB gene KLB Expert list;Expert Review Green Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital hypogonadotropic hypogonadism 28754744 False 3 50;50;0 1.42 False ENSG00000134962 ENSG00000134962 HGNC:15527 LHB gene LHB Expert Review Green;OMIM;Radboud University Medical Center, Nijmegen Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 23 with or without anosmia, 228300 False 3 100;0;0 1.42 False ENSG00000104826 ENSG00000104826 HGNC:6584 LHX4 gene LHX4 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pituitary hormone deficiency, combined, 4, 262700 Takagi, M. ESPE Abstracts (2015) 84 P-1-120, Hormone Research in Paediatrics Volume 82 Supplement 1 False 3 100;0;0 1.42 False ENSG00000121454 ENSG00000121454 HGNC:21734 NR0B1 gene NR0B1 Emory Genetics Laboratory;Expert Review Green;Literature;OMIM;Radboud University Medical Center, Nijmegen;UKGTN Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism 300200" 23295288; 15884018; 10341858; 18202527; 10210708 False 3 0;0;0 1.42 False ENSG00000169297 ENSG00000169297 HGNC:7960 PROK2 gene PROK2 Emory Genetics Laboratory;Expert Review Green;OMIM;Radboud University Medical Center, Nijmegen Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 4 with or without anosmia, 610628;Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel 17959774;17054399;18559922 False 3 100;0;0 1.42 False ENSG00000163421 ENSG00000163421 HGNC:18455 PROKR2 gene PROKR2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;OMIM;Radboud University Medical Center, Nijmegen Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 3 with or without anosmia, 244200;Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel (Emory);Kallmann Syndrome 17054399 False 3 100;0;0 1.42 False ENSG00000101292 ENSG00000101292 HGNC:15836 PROP1 gene PROP1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 2, 262600;Proportionate Short Stature/Small for Gestational Age;Combined Pituitary Hormone Deficiency, Recessive False 3 100;0;0 1.42 False ENSG00000175325 ENSG00000175325 HGNC:9455 SLC29A3 gene SLC29A3 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782 26074390;20619369;18940313;16650224;22989030 False 3 0;0;0 1.42 False ENSG00000198246 ENSG00000198246 HGNC:23096 SLC40A1 gene SLC40A1 Expert Review;Expert Review Green Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hemochromatosis, type 4 606069 False 3 100;0;0 1.42 False ENSG00000138449 ENSG00000138449 HGNC:10909 SOX10 gene SOX10 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Other;Radboud University Medical Center, Nijmegen;UKGTN Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Waardenburg syndrome, type 4C 613266" 23643381 False 3 100;0;0 1.42 False ENSG00000100146 ENSG00000100146 HGNC:11190 SOX2 gene SOX2 Emory Genetics Laboratory;Expert list;Expert Review Green;Other;Radboud University Medical Center, Nijmegen;UKGTN Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia syndromic type 3, Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 12612584; 16932809; 21326281 False 3 100;0;0 1.42 False ENSG00000181449 ENSG00000181449 HGNC:11195 TAC3 gene TAC3 Emory Genetics Laboratory;Expert Review Green;OMIM;Radboud University Medical Center, Nijmegen Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 10 with or without anosmia 614839;Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel 19079066;20332248 False 3 100;0;0 1.42 False ENSG00000166863 ENSG00000166863 HGNC:11521 TACR3 gene TACR3 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;OMIM;Radboud University Medical Center, Nijmegen Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 11 with or without anosmia, 614840; Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel (Emory); Isolated GnRH Deficiency 20332248;19079066 False 3 100;0;0 1.42 False ENSG00000169836 ENSG00000169836 HGNC:11528 TFR2 gene TFR2 Expert Review;Expert Review Green Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 3 604250 False 3 100;0;0 1.42 False ENSG00000106327 ENSG00000106327 HGNC:11762 WDR11 gene WDR11 Expert Review Green;Literature;OMIM;Radboud University Medical Center, Nijmegen Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 21856375;20887964;25064402 False 3 100;0;0 1.42 False ENSG00000120008 ENSG00000120008 HGNC:13831 CCDC141 gene CCDC141 Expert Review Amber;Literature Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Normosmic IHH (no OMIM) 28324054;27014940 False 2 0;100;0 1.42 False ENSG00000163492 ENSG00000163492 HGNC:26821 CLPP gene CLPP Expert list;Expert Review Amber Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 3, OMIM:614129 27899912;23541340;25956234;26970254;27087618;27650058 False 2 100;0;0 1.42 False ENSG00000125656 ENSG00000125656 HGNC:2084 SPRY4 gene SPRY4 Expert list;Expert Review Amber;Literature;Radboud University Medical Center, Nijmegen Hypogonadotropic hypogonadism Hypothalamic and pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism 17 with or without anosmia, OMIM:615266 23643382;32389901 False 2 100;0;0 1.42 False ENSG00000187678 ENSG00000187678 HGNC:15533 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