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 Review Green;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700 Hypogonadotropic hypogonadism HP:0000044 1594017;8504298;8989261 False 3 100;0;0 0.137 True ENSG00000011201 ENSG00000011201 HGNC:6211 ARHGAP35 gene ARHGAP35 Expert Review Green;Literature Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism, MONDO:0015770, ARHGAP35-related Hypogonadotropic hypogonadism HP:0000044 PMID: 36178483 False 3 100;0;0 0.137 True ENSG00000160007 ENSG00000160007 HGNC:4591 BMP4 gene BMP4 Expert Review Green;Genomics England PanelApp Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microphthalmia, syndromic 6, MIM#607932 Hypogonadotropic hypogonadism HP:0000044 31120642, 24289245, 18252212, 35633847 False 3 100;0;0 0.137 True ENSG00000125378 ENSG00000125378 HGNC:1071 CHD7 gene CHD7 Expert Review Green;Genomics England PanelApp Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism 5 with or without anosmia (612370);CHARGE syndrome (214800) Hypogonadotropic hypogonadism HP:0000044 29152903;30733481;18834967 False 3 100;0;0 0.137 True ENSG00000171316 ENSG00000171316 HGNC:20626 CPE gene CPE Expert Review;Expert Review Green Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal BDV syndrome MONDO:0859150 Hypogonadotropic hypogonadism HP:0000044 26120850;32936766;34383079 False 3 67;33;0 0.137 True ENSG00000109472 ENSG00000109472 HGNC:2303 CUL4B gene CUL4B Expert list;Expert Review Green;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Mental retardation, X-linked, syndromic 15 (Cabezas type) 300354" Hypogonadotropic hypogonadism HP:0000044 PMID: 25385192 False 3 100;0;0 0.137 True ENSG00000158290 ENSG00000158290 HGNC:2555 DCAF17 gene DCAF17 Expert Review;Expert Review Green Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Woodhouse-Sakati syndrome, MIM# 241080" Hypogonadotropic hypogonadism HP:0000044 19026396;20507343;35002959;34877714;34732557;34590781 False 3 100;0;0 0.137 True ENSG00000115827 ENSG00000115827 HGNC:25784 DLG2 gene DLG2 Expert Review Green;Literature Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown delayed puberty, self-limited, MONDO:0859205 Hypogonadotropic hypogonadism HP:0000044 32341572 False 3 100;0;0 0.137 True ENSG00000150672 ENSG00000150672 HGNC:2901 EIF2S3 gene EIF2S3 Expert Review Green;Genetic Health Queensland Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females MEHMO syndrome, MIM# 300148 Hypogonadotropic hypogonadism HP:0000044 23063529;27333055;28055140;32799315 False 3 100;0;0 0.137 True ENSG00000130741 ENSG00000130741 HGNC:3267 EMX2 gene EMX2 Expert Review Green;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schizencephaly, MIM# 269160Hypogonadotropic hypogonadism, MONDO:0015770, EMX2-related;46,XX or XY DSD, EMX2-related Hypogonadotropic hypogonadism HP:0000044 41765865;34829455;33434492;25577462 False 3 100;0;0 0.137 True ENSG00000170370 ENSG00000170370 HGNC:3341 FGF17 gene FGF17 Expert Review Green;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism HP:0000044 23643382;31748124 False 3 100;0;0 0.137 True ENSG00000158815 ENSG00000158815 HGNC:3673 FGF8 gene FGF8 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism 6 with or without anosmia (612702) Hypogonadotropic hypogonadism HP:0000044 22319038;21832120;20463092 False 3 100;0;0 0.137 True ENSG00000107831 ENSG00000107831 HGNC:3686 FGFR1 gene FGFR1 Expert Review Green;Genomics England PanelApp Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism 2 with or without anosmia 147950 Hypogonadotropic hypogonadism HP:0000044 12627230, 18034870, 16606836, 15001591 False 3 100;0;0 0.137 True ENSG00000077782 ENSG00000077782 HGNC:3688 FOXA2 gene FOXA2 Expert Review Green;Genomics England PanelApp Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypopituitarism, MONDO:0005152;Hyperinsulinism, MONDO:0002177 Hypogonadotropic hypogonadism HP:0000044 28973288, 29329447, 30414530, 33729509, 31294511, 33999151 False 3 100;0;0 0.137 True ENSG00000125798 ENSG00000125798 HGNC:5022 FSHB gene FSHB Expert Review Green;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 24 without anosmia, MIM#229070 Hypogonadotropic hypogonadism HP:0000044 8220432;9280841;9624193;9806482;9271483;16630814 False 3 100;0;0 0.137 True ENSG00000131808 ENSG00000131808 HGNC:3964 GLI2 gene GLI2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Culler-Jones syndrome (615849);Holoprosencephaly 9 (610829) Hypogonadotropic hypogonadism HP:0000044 14581620;25878059 False 3 100;0;0 0.137 True ENSG00000074047 ENSG00000074047 HGNC:4318 GLI3 gene GLI3 Expert Review Green;Genomics England PanelApp Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Greig cephalopolysyndactyly syndrome (175700);Pallister-Hall syndrome (146510) Hypogonadotropic hypogonadism HP:0000044 24736735;15739154 False 3 100;0;0 0.137 True ENSG00000106571 ENSG00000106571 HGNC:4319 GNAI2 gene GNAI2 Expert Review Green;Literature Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic disease MONDO:0002254, GNAI2-related Hypogonadotropic hypogonadism HP:0000044 31036916;40926810;39298586 False 3 100;0;0 0.137 True ENSG00000114353 ENSG00000114353 HGNC:4385 GNRH1 gene GNRH1 Expert Review Green;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841 Hypogonadotropic hypogonadism HP:0000044 19535795;19567835;32134721;31200363;26595427 False 3 100;0;0 0.137 True ENSG00000147437 ENSG00000147437 HGNC:4419 GNRHR gene GNRHR Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 7 without anosmia (146110) Hypogonadotropic hypogonadism HP:0000044 False 3 100;0;0 0.137 True ENSG00000109163 ENSG00000109163 HGNC:4421 HESX1 gene HESX1 Expert Review Green;Genomics England PanelApp Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Growth hormone deficiency with pituitary anomalies (182230);Pituitary hormone deficiency, combined, 5 (182230) Hypogonadotropic hypogonadism HP:0000044 14561704;26781211;11136712;16940453 False 3 100;0;0 0.137 True ENSG00000163666 ENSG00000163666 HGNC:4877 HID1 gene HID1 Expert Review Green;Literature Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 105 with hypopituitarism MIM#619983 Hypogonadotropic hypogonadism HP:0000044 33999436 False 3 100;0;0 0.137 True ENSG00000167861 ENSG00000167861 HGNC:15736 KISS1R gene KISS1R Expert Review Green;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 8 with or without anosmia (MIM#614837) Hypogonadotropic hypogonadism HP:0000044 17164310;31073722;14573733 False 3 100;0;0 0.137 True ENSG00000116014 ENSG00000116014 HGNC:4510 KLB gene KLB Expert Review Green;Literature Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism MONDO:0018555, KLB-related Hypogonadotropic hypogonadism HP:0000044 28754744 False 3 100;0;0 0.137 True ENSG00000134962 ENSG00000134962 HGNC:15527 LEPR gene LEPR Expert Review Green;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Obesity due to leptin receptor gene deficiency, MONDO:0013992 Hypogonadotropic hypogonadism HP:0000044 17229951;29545012;31658438 False 3 100;0;0 0.137 True ENSG00000116678 ENSG00000116678 HGNC:6554 LHB gene LHB Expert Review Green;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 23 with or without anosmia (MIM#228300) Hypogonadotropic hypogonadism HP:0000044 17761593;28092701;29476300;22723313;15602022 False 3 100;0;0 0.137 True ENSG00000104826 ENSG00000104826 HGNC:6584 LHX3 gene LHX3 Expert Review Green;Genomics England PanelApp Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 3 (221750) Hypogonadotropic hypogonadism HP:0000044 False 3 100;0;0 0.137 True ENSG00000107187 ENSG00000107187 HGNC:6595 LHX4 gene LHX4 Expert Review Green;Genomics England PanelApp Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pituitary hormone deficiency, combined, 4 (262700) Hypogonadotropic hypogonadism HP:0000044 18073311;18445675;11567216 False 3 100;0;0 0.137 True ENSG00000121454 ENSG00000121454 HGNC:21734 MT-TS2 gene MT-TS2 Expert list;Expert Review Green Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-TS2-related Hypogonadotropic hypogonadism HP:0000044 9792552;10090882;16950817;21257182;22369973;22378285 False 3 100;0;0 0.137 True ENSG00000210184 ENSG00000210184 HGNC:7498 NEUROG3 gene NEUROG3 Expert Review Green;Literature Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Congenital malabsorptive diarrhea 4, MONDO:0012479;Hypogonadotropic hypogonadism, MONDO:0018555 Hypogonadotropic hypogonadism HP:0000044 36149814;27533310 False 3 100;0;0 0.137 True ENSG00000122859 ENSG00000122859 HGNC:13806 NOS1 gene NOS1 Expert Review Green;Literature Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism, MONDO:0018555 Hypogonadotropic hypogonadism HP:0000044 36197968 False 3 100;0;0 0.137 True ENSG00000089250 ENSG00000089250 HGNC:7872 NR0B1 gene NR0B1 Expert Review Green;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Adrenal hypoplasia, congenital (MIM# 300200);46XY sex reversal 2, dosage-sensitive, MIM# 300018" Hypogonadotropic hypogonadism HP:0000044 19508677;26030781 False 3 100;0;0 0.137 True ENSG00000169297 ENSG00000169297 HGNC:7960 OTX2 gene OTX2 Expert Review Green;Genomics England PanelApp Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pituitary hormone deficiency, combined, 6 (613986);Microphthalmia, syndromic 5 (610125) Hypogonadotropic hypogonadism HP:0000044 19965921;22715480;18628516;18728160 False 3 100;0;0 0.137 True ENSG00000165588 ENSG00000165588 HGNC:8522 PCSK1 gene PCSK1 Expert Review Green;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Obesity with impaired prohormone processing MIM#600955 Hypogonadotropic hypogonadism HP:0000044 30383237 False 3 100;0;0 0.137 True ENSG00000175426 ENSG00000175426 HGNC:8743 PLXNA3 gene PLXNA3 Expert Review Green;Literature Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism HP:0000044 PMID: 33495532 False 3 0;0;0 0.137 True ENSG00000130827 ENSG00000130827 HGNC:9101 PNPLA6 gene PNPLA6 Expert list;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Oliver-McFarlane syndrome (275400);Spastic paraplegia 39, autosomal recessive (612020);Boucher-Neuhauser syndrome (215470) Hypogonadotropic hypogonadism HP:0000044 25033069 False 3 100;0;0 0.137 True ENSG00000032444 ENSG00000032444 HGNC:16268 POLR3A gene POLR3A Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (607694) Hypogonadotropic hypogonadism HP:0000044 False 3 100;0;0 0.137 True ENSG00000148606 ENSG00000148606 HGNC:30074 POLR3B gene POLR3B Expert Review Green;Literature Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism;OMIM #614381 Hypogonadotropic hypogonadism HP:0000044 27512013;23355746;22036171;22036172;25339210;33005949;22855961 False 3 100;0;0 0.137 False ENSG00000013503 ENSG00000013503 HGNC:30348 PROK2 gene PROK2 Expert Review Green;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 4 with or without anosmia (MIM#610628) Hypogonadotropic hypogonadism HP:0000044 18559922;17054399;17959774;18285834 False 3 100;0;0 0.137 False ENSG00000163421 ENSG00000163421 HGNC:18455 PROKR2 gene PROKR2 Expert Review Green;Genomics England PanelApp Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 3 with or without anosmia (244200) Hypogonadotropic hypogonadism HP:0000044 22319038;25678757;25759380;18826963;29161432 False 3 100;0;0 0.137 False ENSG00000101292 ENSG00000101292 HGNC:15836 PROP1 gene PROP1 Expert Review Green;Genomics England PanelApp Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 2 MIM# 262600 Hypogonadotropic hypogonadism HP:0000044 20301521, 31090814 False 3 100;0;0 0.137 False ENSG00000175325 ENSG00000175325 HGNC:9455 RNF216 gene RNF216 Expert list;Expert Review Green Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia-hypogonadism syndrome, MONDO:0008935 Hypogonadotropic hypogonadism HP:0000044 25841028;23656588;38050071 False 3 100;0;0 0.137 True ENSG00000011275 ENSG00000011275 HGNC:21698 ROBO1 gene ROBO1 Expert Review Green;Literature Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal "Pituitary hormone deficiency, combined or isolated, 8, MIM# 620303" Hypogonadotropic hypogonadism HP:0000044 PMID: 30530901;30692597;33270637;28402530 False 3 100;0;0 0.137 False ENSG00000169855 ENSG00000169855 HGNC:10249 SEMA3A gene SEMA3A Expert Review;Expert Review Green Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897 Hypogonadotropic hypogonadism HP:0000044 28075028;33369061;20301509;21059704;24124006;22927827 False 3 100;0;0 0.137 False ENSG00000075213 ENSG00000075213 HGNC:10723 SEMA3F gene SEMA3F Expert Review Green;Literature Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism HP:0000044 PMID: 33495532 False 3 100;0;0 0.137 False ENSG00000001617 ENSG00000001617 HGNC:10728 SLC29A3 gene SLC29A3 Expert Review Green;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782 Hypogonadotropic hypogonadism HP:0000044 18940313;19336477;22238637 False 3 100;0;0 0.137 False ENSG00000198246 ENSG00000198246 HGNC:23096 SMCHD1 gene SMCHD1 Expert list;Expert Review Green Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Bosma arhinia microphthalmia syndrome, MIM# 603457;Arhinia, choanal atresia, microphthalmia MONDO:0011323" Hypogonadotropic hypogonadism HP:0000044 28067909;38808953 False 3 100;0;0 0.137 True Other ENSG00000101596 ENSG00000101596 HGNC:29090 SOX10 gene SOX10 Expert Review;Expert Review Green Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Kallman syndrome;PCWH syndrome (MIM#609136);Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584);Waardenburg syndrome, type 4C (MIM#613266) Hypogonadotropic hypogonadism HP:0000044 23643381;15004559 False 3 100;0;0 0.137 False Other ENSG00000100146 ENSG00000100146 HGNC:11190 SOX11 gene SOX11 Expert Review;Expert Review Green Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866 Hypogonadotropic hypogonadism HP:0000044 29459093;24886874;33086258;33785884;35642566;35341651 False 3 100;0;0 0.137 True ENSG00000176887 ENSG00000176887 HGNC:11191 SOX2 gene SOX2 Expert Review Green;Literature Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:0008799;Microphthalmia, syndromic 3, MIM# 206900;Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900 Hypogonadotropic hypogonadism HP:0000044 PMID: 20301477 False 3 100;0;0 0.137 False ENSG00000181449 ENSG00000181449 HGNC:11195 SOX3 gene SOX3 Expert Review Green;Genomics England PanelApp Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Panhypopituitarism, X-linked (312000);Mental retardation, X-linked, with isolated growth hormone deficiency (300123) Hypogonadotropic hypogonadism HP:0000044 24346842;15800844;21289259;24737742 False 3 50;50;0 0.137 False ENSG00000134595 ENSG00000134595 HGNC:11199 TAC3 gene TAC3 Expert Review Green;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 10 with or without anosmia (MIM#614839) Hypogonadotropic hypogonadism HP:0000044 19079066;20332248;23329188;22031817 False 3 100;0;0 0.137 False ENSG00000166863 ENSG00000166863 HGNC:11521 TACR3 gene TACR3 Expert list;Expert Review Green Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Hypogonadotropic hypogonadism 11 with or without anosmia, MIM# 614840" Hypogonadotropic hypogonadism HP:0000044 20332248;19079066 False 3 100;0;0 0.137 False ENSG00000169836 ENSG00000169836 HGNC:11528 TBC1D32 gene TBC1D32 Expert Review Green;Literature Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Syndromic hypopituitarism Hypogonadotropic hypogonadism HP:0000044 32573025;32060556;24285566;31130284;36826837;40319332 False 3 50;50;0 0.137 False ENSG00000146350 ENSG00000146350 HGNC:21485 TBX3 gene TBX3 Expert Review Green;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ulnar-mammary syndrome, MIM# 181450;MONDO:0008411 Hypogonadotropic hypogonadism HP:0000044 9207801;19938096;28145909;40485890;39788453;36937985;30550377 False 3 100;0;0 0.137 True ENSG00000135111 ENSG00000135111 HGNC:11602 TCF12 gene TCF12 Expert Review Green;Literature Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 26 with or without anosmia, MIM# 619718;Kallmann syndrome Hypogonadotropic hypogonadism HP:0000044 32620954 False 3 100;0;0 0.137 False ENSG00000140262 ENSG00000140262 HGNC:11623 TUBB3 gene TUBB3 Expert Review Green;Literature Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TUBB3-related tubulinopathy, MONDO:0100154 Hypogonadotropic hypogonadism HP:0000044 34652576;25559402 False 3 100;0;0 0.137 True ENSG00000258947 ENSG00000258947 HGNC:20772 WDR11 gene WDR11 Expert List;Expert Review Green;Genomics England PanelApp Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism 14 with or without anosmia (614858) Hypogonadotropic hypogonadism HP:0000044 False 3 100;0;0 0.137 False ENSG00000120008 ENSG00000120008 HGNC:13831 ZRSR2 gene ZRSR2 Expert Review Green;Literature Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Orofaciodigital syndrome XXI, MIM# 301132 Hypogonadotropic hypogonadism HP:0000044 38158857 False 3 100;0;0 0.137 False ENSG00000169249 ENSG00000169249 HGNC:23019 AMH gene AMH Expert Review Amber;Literature Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism, MONDO:0018555 Hypogonadotropic hypogonadism HP:0000044 31291191 False 2 0;100;0 0.137 True ENSG00000104899 ENSG00000104899 HGNC:464 ARNT2 gene ARNT2 Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp;Literature Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Webb-Dattani syndrome 615926 Hypogonadotropic hypogonadism HP:0000044 24022475, 11381139 False 2 0;100;0 0.137 False ENSG00000172379 ENSG00000172379 HGNC:16876 CCDC141 gene CCDC141 Expert Review;Expert Review Amber Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal congenital hypogonadotropic hypogonadism, MONDO:0015770, CCDC141-related Hypogonadotropic hypogonadism HP:0000044 251920460;28324054;32520725;27014940 False 2 0;100;0 0.137 False ENSG00000163492 ENSG00000163492 HGNC:26821 CLPP gene CLPP Expert Review;Expert Review Amber Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 3, MIM# 614129 Hypogonadotropic hypogonadism HP:0000044 23541340;25956234;26970254;27087618;27650058;27650058;27899912 False 2 0;100;0 0.137 False ENSG00000125656 ENSG00000125656 HGNC:2084 ESRP2 gene ESRP2 Expert list;Expert Review Amber Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cleft palate, MONDO:0016064;Hypopituitarism MONDO:0005152 Hypogonadotropic hypogonadism HP:0000044 29805042 False 2 100;0;0 0.137 False ENSG00000103067 ENSG00000103067 HGNC:26152 FEZF1 gene FEZF1 Expert Review Amber;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 22, with or without anosmia 616030 Hypogonadotropic hypogonadism HP:0000044 25192046;32400067 False 2 0;100;0 0.137 False ENSG00000128610 ENSG00000128610 HGNC:22788 KISS1 gene KISS1 Expert list;Expert Review Amber Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842" Hypogonadotropic hypogonadism HP:0000044 22335740;25783047;22766261;17563351 False 2 0;100;0 0.137 False ENSG00000170498 ENSG00000170498 HGNC:6341 NDNF gene NDNF Expert Review Amber;Literature Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 25 with anosmia MIM#618841 Hypogonadotropic hypogonadism HP:0000044 31883645;40788466;36454653 False 2 0;100;0 0.137 True ENSG00000173376 ENSG00000173376 HGNC:26256 NLGN3 gene NLGN3 Expert Review Amber;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) X-linked complex neurodevelopmental disorder MONDO:0100148;{Autism susceptibility, X-linked 1} - MIM#300425;Hypogonadotropic hypogonadism MONDO:0018555 Hypogonadotropic hypogonadism HP:0000044 28584888;12669065;25167861 False 2 0;100;0 0.137 True ENSG00000196338 ENSG00000196338 HGNC:14289 PLXNA1 gene PLXNA1 Expert Review Amber;Literature Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism MONDO:0018555, PLXNA1-related Hypogonadotropic hypogonadism HP:0000044 28334861;30467832;34636164 False 2 0;100;0 0.137 True ENSG00000114554 ENSG00000114554 HGNC:9099 PLXNB1 gene PLXNB1 Expert Review Amber;Literature Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism MONDO:0018555 Hypogonadotropic hypogonadism HP:0000044 35170806 False 2 0;100;0 0.137 True ENSG00000164050 ENSG00000164050 HGNC:9103 POU6F2 gene POU6F2 Expert Review Amber;Literature Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypogonadotropic hypogonadism, MONDO:0018555 Hypogonadotropic hypogonadism HP:0000044 37600690 False 2 0;100;0 0.137 True ENSG00000106536 ENSG00000106536 HGNC:21694 PRDM13 gene PRDM13 Expert Review Amber;Literature Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761 Hypogonadotropic hypogonadism HP:0000044 34730112 False 2 0;100;0 0.137 False ENSG00000112238 ENSG00000112238 HGNC:13998 RAX gene RAX Expert Review Amber;Literature Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, syndromic 16, MIM#611038 Hypogonadotropic hypogonadism HP:0000044 30811539, 40321348 False 2 0;100;0 0.137 False ENSG00000134438 ENSG00000134438 HGNC:18662 RBM28 gene RBM28 Expert Review Amber;Genomics England PanelApp Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal ANE syndrome;Alopecia, neurologic defects, and endocrinopathy syndrome (612079) Hypogonadotropic hypogonadism HP:0000044 20231366;18439547;33941690 False 2 0;100;0 0.137 False ENSG00000106344 ENSG00000106344 HGNC:21863 SPRY4 gene SPRY4 Expert list;Expert Review Amber Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Hypogonadotropic hypogonadism 17 with or without anosmia, MIM# 615266" Hypogonadotropic hypogonadism HP:0000044 23643382 False 2 0;100;0 0.137 False ENSG00000187678 ENSG00000187678 HGNC:15533 ARHGAP5 gene ARHGAP5 Expert Review Red;Literature Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Kallmann syndrome MONDO:0018800 Hypogonadotropic hypogonadism HP:0000044 39308770;36178483 False 1 0;0;100 0.137 True ENSG00000100852 ENSG00000100852 HGNC:675 AXL gene AXL Expert Review;Expert Review Red Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism, MONDO:0018555, AXL-related Hypogonadotropic hypogonadism HP:0000044 24476074 False 1 0;0;100 0.137 False ENSG00000167601 ENSG00000167601 HGNC:905 DUSP6 gene DUSP6 Expert Review Red;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 19 with or without anosmia - MIM#615269 Hypogonadotropic hypogonadism HP:0000044 23643382;32389901;39809967;37108593;33819414 False 1 0;0;100 0.137 True ENSG00000139318 ENSG00000139318 HGNC:3072 FLRT3 gene FLRT3 Expert Review Red;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders Unknown Hypogonadotropic hypogonadism 21 with anosmia (MIM# 615271) Hypogonadotropic hypogonadism HP:0000044 23643382;31200363 False 1 0;0;100 0.137 False ENSG00000125848 ENSG00000125848 HGNC:3762 HAMP gene HAMP Expert Review Red;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Haemochromatosis, type 2B, MIM# 613313 Hypogonadotropic hypogonadism HP:0000044 12469120;34828384;15198949 False 1 100;0;0 0.137 True ENSG00000105697 ENSG00000105697 HGNC:15598 HFE gene HFE Expert Review Red;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Haemochromatosis, MIM# 235200 Hypogonadotropic hypogonadism HP:0000044 False 1 100;0;0 0.137 True ENSG00000010704 ENSG00000010704 HGNC:4886 HFE2 gene HFE2 Expert Review Red;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2A, MIM# 602390 Hypogonadotropic hypogonadism HP:0000044 False 1 100;0;0 0.137 True ENSG00000168509 ENSG00000168509 HGNC:4887 HS6ST1 gene HS6ST1 Expert Review Red;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders Other {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880 Hypogonadotropic hypogonadism HP:0000044 21700882 False 1 0;0;100 0.137 False ENSG00000136720 ENSG00000136720 HGNC:5201 IL17RD gene IL17RD Expert Review Red;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267 Hypogonadotropic hypogonadism HP:0000044 23643382;32389901 False 1 0;0;100 0.137 False ENSG00000144730 ENSG00000144730 HGNC:17616 NHLH2 gene NHLH2 Expert Review;Expert Review Red Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Hypogonadotropic hypogonadism 27 without anosmia , MIM# 619755" Hypogonadotropic hypogonadism HP:0000044 35066646 False 1 0;0;100 0.137 False ENSG00000177551 ENSG00000177551 HGNC:7818 NKX2-1 gene NKX2-1 Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, MONDO:0100520 Hypogonadotropic hypogonadism HP:0000044 10931427;27066577;26839702;26103969;33270637;30186310 False 1 50;0;50 0.137 True ENSG00000136352 ENSG00000136352 HGNC:11825 NRP1 gene NRP1 Expert Review Red;Literature Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism MONDO:0018555 Hypogonadotropic hypogonadism HP:0000044 34636164;28334861 False 1 0;0;100 0.137 True ENSG00000099250 ENSG00000099250 HGNC:8004 NRP2 gene NRP2 Expert Review Red;Literature Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism, MONDO:0018555 Hypogonadotropic hypogonadism HP:0000044 34636164;28334861 False 1 0;0;100 0.137 True ENSG00000118257 ENSG00000118257 HGNC:8005 NSMF gene NSMF Expert list;Expert Review Red Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838" Hypogonadotropic hypogonadism HP:0000044 15362570;17235395;21700882;31220265;34348883;35316923;39010903;39809967 False 1 0;0;100 0.137 True ENSG00000165802 ENSG00000165802 HGNC:29843 SEMA3E gene SEMA3E Expert Review;Expert Review Red Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal ?CHARGE syndrome (MIM#214800) Hypogonadotropic hypogonadism HP:0000044 25985275 False 1 0;0;100 0.137 False ENSG00000170381 ENSG00000170381 HGNC:10727 SLC40A1 gene SLC40A1 Expert Review Red;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Haemochromatosis, type 4, MIM# 606069 Hypogonadotropic hypogonadism HP:0000044 11431687;11518736;15956209;16351644 False 1 100;0;0 0.137 True ENSG00000138449 ENSG00000138449 HGNC:10909 TFR2 gene TFR2 Expert Review Red;Victorian Clinical Genetics Services Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Haemochromatosis, type 3 (MIM#604250) Hypogonadotropic hypogonadism HP:0000044 24847265;29743178 False 1 100;0;0 0.137 True ENSG00000106327 ENSG00000106327 HGNC:11762 TTC26 gene TTC26 Expert Review Red;Literature Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal biliary, renal, neurologic, and skeletal syndrome, MONDO:0859191 Hypogonadotropic hypogonadism HP:0000044 32617964 False 1 0;0;100 0.137 True ENSG00000105948 ENSG00000105948 HGNC:21882 ISCA-37478-Loss region Expert list;Expert Review Green;Expert Review Green;Expert list Hypogonadotropic hypogonadism Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Angelman syndrome, MIM# 105830;Prader-Willi syndrome, MIM# 176270 Hypogonadotropic hypogonadism HP:0000044 22045295 False 3 100;0;0 0.137 False 15 23513243 28312040 3 80 cnv_loss Angelman and Prader-Willi syndromes, Class 2 BP2-BP3 deletions