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 1.41 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 1.41 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 1.41 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 1.41 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 1.41 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 1.41 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 1.41 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 1.41 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 1.41 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 1.41 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 1.41 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 1.41 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 1.41 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 1.41 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 1.41 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 1.41 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 1.41 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 1.41 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 1.41 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 1.41 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 1.41 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 1.41 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 1.41 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 1.41 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 1.41 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 1.41 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 1.41 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 1.41 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 1.41 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 1.41 False ENSG00000120008 ENSG00000120008 HGNC:13831