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;NHS GMS;South West GLH;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypogonadotropic hypogonadism type 1 (OMIM 308700) False 3 100;0;0 4.7 False ENSG00000011201 ENSG00000011201 HGNC:6211 ARHGAP35 gene ARHGAP35 Expert Review Green;Literature;NHS GMS Hypogonadotropic hypogonadism (GMS) Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hypogonadotropic hypogonadism, MONDO:0018555 36178483 False 3 100;0;0 4.7 False ENSG00000160007 ENSG00000160007 HGNC:4591 CHD7 gene CHD7 Expert Review Green;NHS GMS;South West GLH;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism type 5 (OMIM 612370) False 3 100;0;0 4.7 False ENSG00000171316 ENSG00000171316 HGNC:20626 CUL4B gene CUL4B Expert Review Green;NHS GMS;South West GLH;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology X-LINKED: hemizygous mutation in males, biallelic mutations in females Syndromic X-linked mental retardation (OMIM 300354) False 3 50;0;50 4.7 False ENSG00000158290 ENSG00000158290 HGNC:2555 FEZF1 gene FEZF1 Expert Review Green;NHS GMS;South West GLH;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 22, with or without anosmia, OMIM:616030 25192046 False 3 75;0;25 4.7 False ENSG00000128610 ENSG00000128610 HGNC:22788 FGF8 gene FGF8 Expert Review Green;NHS GMS;South West GLH;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypogonadotropic hypogonadism type 6 (OMIM 612702) False 3 100;0;0 4.7 False ENSG00000107831 ENSG00000107831 HGNC:3686 FGFR1 gene FGFR1 Expert Review Green;NHS GMS;South West GLH;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950;Hartsfield syndrome, OMIM:615465 23154428;23812909;25394172;27055092 False 3 100;0;0 4.7 False ENSG00000077782 ENSG00000077782 HGNC:3688 FSHB gene FSHB Expert Review Green;NHS GMS;South West GLH;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism type 24 (OMIM 229070) False 3 100;0;0 4.7 False ENSG00000131808 ENSG00000131808 HGNC:3964 GNRH1 gene GNRH1 Expert Review Green;NHS GMS;South West GLH;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology BIALLELIC, autosomal or pseudoautosomal ?Hypogonadotropic hypogonadism 12 with or without anosmia, OMIM:614841 19535795;19567835;32134721;31200363;26595427 False 3 67;0;33 4.7 False ENSG00000147437 ENSG00000147437 HGNC:4419 GNRHR gene GNRHR Expert Review Green;NHS GMS;South West GLH;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism type 7 (OMIM 146110) False 3 100;0;0 4.7 False ENSG00000109163 ENSG00000109163 HGNC:4421 IL17RD gene IL17RD Expert Review Green;NHS GMS;South West GLH;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 18 with or without anosmia, OMIM:615267 23643382;32389901 False 3 50;50;0 4.7 False ENSG00000144730 ENSG00000144730 HGNC:17616 KISS1R gene KISS1R Expert Review Green;NHS GMS;South West GLH;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 8 with or without anosmia, OMIM:614837 False 3 100;0;0 4.7 False ENSG00000116014 ENSG00000116014 HGNC:4510 KLB gene KLB Expert Review Green;NHS GMS;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital hypogonadotropic hypogonadism 28754744 False 3 50;0;50 4.7 False ENSG00000134962 ENSG00000134962 HGNC:15527 LEP gene LEP Expert list;Expert Review Green;NHS GMS Hypogonadotropic hypogonadism (GMS) Endocrinology BIALLELIC, autosomal or pseudoautosomal Obesity, morbid, due to leptin deficiency, OMIM:614962 26567097;31483094 False 3 100;0;0 4.7 False ENSG00000174697 ENSG00000174697 HGNC:6553 LEPR gene LEPR Expert list;Expert Review Green;NHS GMS Hypogonadotropic hypogonadism (GMS) Endocrinology BIALLELIC, autosomal or pseudoautosomal Obesity, morbid, due to leptin receptor deficiency, OMIM:614963 17229951;29545012 False 3 100;0;0 4.7 False ENSG00000116678 ENSG00000116678 HGNC:6554 LHB gene LHB Expert Review Green;NHS GMS;South West GLH;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism type 23 (OMIM 228300) False 3 100;0;0 4.7 False ENSG00000104826 ENSG00000104826 HGNC:6584 NDNF gene NDNF Expert Review Green;Literature Hypogonadotropic hypogonadism (GMS) Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 25 with anosmia, OMIM:618841 31883645;36245975 False 3 50;50;0 4.7 False ENSG00000173376 ENSG00000173376 HGNC:26256 PLXNA3 gene PLXNA3 Expert Review Green;Literature;NHS GMS Hypogonadotropic hypogonadism (GMS) Endocrinology X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypogonadotropic hypogonadism, MONDO:0018555 33495532 False 3 100;0;0 4.7 False ENSG00000130827 ENSG00000130827 HGNC:9101 PROK2 gene PROK2 Expert Review Green;NHS GMS;South West GLH;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism type 4 (OMIM 610628) False 3 100;0;0 4.7 False ENSG00000163421 ENSG00000163421 HGNC:18455 PROKR2 gene PROKR2 Expert Review Green;NHS GMS;South West GLH;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 3 with or without anosmia, OMIM:244200 36694982 False 3 100;0;0 4.7 False ENSG00000101292 ENSG00000101292 HGNC:15836 PROP1 gene PROP1 Expert Review Green;NHS GMS;South West GLH;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 2, OMIM:262600 11549703;15941866 False 3 50;0;50 4.7 False ENSG00000175325 ENSG00000175325 HGNC:9455 RNF216 gene RNF216 Expert Review Green;Literature;NHS GMS Hypogonadotropic hypogonadism (GMS) Endocrinology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840;cerebellar ataxia-hypogonadism syndrome, MONDO:0008935 39444518;23656588;25841028 False 3 100;0;0 4.7 False ENSG00000011275 ENSG00000011275 HGNC:21698 SEMA3F gene SEMA3F Expert Review Green;Literature;NHS GMS Hypogonadotropic hypogonadism (GMS) Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism, MONDO:0018555 33495532 False 3 100;0;0 4.7 False ENSG00000001617 ENSG00000001617 HGNC:10728 SOX10 gene SOX10 Expert Review Green;NHS GMS;South West GLH;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Waardenburg syndrome type 4C, OMIM:611584;Waardenburg syndrome, type 2E, with or without neurologic involvement, OMIM:611584;congenital hypogonadotropic hypogonadism, MONDO:0015770 23643381;15004559;30914325;26228106;24769923;33082981;33597923 False 3 33;0;67 4.7 False ENSG00000100146 ENSG00000100146 HGNC:11190 SOX11 gene SOX11 Expert Review Green;Literature;NHS GMS Hypogonadotropic hypogonadism (GMS) Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, OMIM:615866 35341651 False 3 100;0;0 4.7 False ENSG00000176887 ENSG00000176887 HGNC:11191 TAC3 gene TAC3 Expert Review Green;NHS GMS;South West GLH;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism type 10(OMIM 614839) False 3 100;0;0 4.7 False ENSG00000166863 ENSG00000166863 HGNC:11521 TACR3 gene TACR3 Expert Review Green;NHS GMS;South West GLH;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism type 11(OMIM 614840) False 3 100;0;0 4.7 False ENSG00000169836 ENSG00000169836 HGNC:11528 WDR11 gene WDR11 Expert Review Green;NHS GMS;South West GLH;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism type 14 (OMIM 614858) False 3 100;0;0 4.7 False ENSG00000120008 ENSG00000120008 HGNC:13831 CCDC141 gene CCDC141 Expert Review Amber;Literature Hypogonadotropic hypogonadism (GMS) Endocrinology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Anosmic hypogonadotropic hypogonadism;congenital hypogonadotropic hypogonadism, MONDO:0015770 27014940;28324054;25192046;251920460;32520725 False 2 0;100;0 4.7 False ENSG00000163492 ENSG00000163492 HGNC:26821 CLPP gene CLPP Expert list;Expert Review Amber Hypogonadotropic hypogonadism (GMS) Endocrinology BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 3, OMIM:614129 27899912;23541340;25956234;26970254;27087618;27650058 False 2 100;0;0 4.7 False ENSG00000125656 ENSG00000125656 HGNC:2084 CPE gene CPE Expert Review Amber;Literature Hypogonadotropic hypogonadism (GMS) Endocrinology BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326 26120850;32936766;34383079 False 2 50;50;0 4.7 False ENSG00000109472 ENSG00000109472 HGNC:2303 DCAF17 gene DCAF17 Expert Review Amber;NHS GMS;South West GLH;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology BIALLELIC, autosomal or pseudoautosomal Woodhouse-Sakati syndrome (OMIM 241080) False 2 50;0;50 4.7 False ENSG00000115827 ENSG00000115827 HGNC:25784 DUSP6 gene DUSP6 Expert list;Expert Review Amber Hypogonadotropic hypogonadism (GMS) Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 19 with or without anosmia, OMIM:615269 23643382;32389901 False 2 100;0;0 4.7 False ENSG00000139318 ENSG00000139318 HGNC:3072 FGF17 gene FGF17 Expert list;Expert Review Amber Hypogonadotropic hypogonadism (GMS) Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 20 with or without anosmia, OMIM:615270 23643382;31748124 False 2 0;100;0 4.7 False ENSG00000158815 ENSG00000158815 HGNC:3673 IGSF10 gene IGSF10 Expert Review Amber;Literature Hypogonadotropic hypogonadism (GMS) Endocrinology BIALLELIC, autosomal or pseudoautosomal delayed puberty;hypogonadotropic hypogonadism;primary ovary insufficiency 27137492;31042289 False 2 0;100;0 4.7 False ENSG00000152580 ENSG00000152580 HGNC:26384 SLC29A3 gene SLC29A3 Expert Review Amber;NHS GMS;South West GLH;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology BIALLELIC, autosomal or pseudoautosomal Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782;H syndrome: characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies and hypogonadism False 2 50;0;50 4.7 False ENSG00000198246 ENSG00000198246 HGNC:23096 SOX2 gene SOX2 Expert Review Amber;NHS GMS;South West GLH;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic Microphthalmia type 3 (OMIM 206900) False 2 50;0;50 4.7 False ENSG00000181449 ENSG00000181449 HGNC:11195 SPRY4 gene SPRY4 Expert list;Expert Review Amber;Literature;Radboud University Medical Center, Nijmegen Hypogonadotropic hypogonadism (GMS) Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism 17 with or without anosmia, OMIM:615266 23643382;32389901 False 2 100;0;0 4.7 False ENSG00000187678 ENSG00000187678 HGNC:15533 TCF12 gene TCF12 Expert Review Amber;Literature Hypogonadotropic hypogonadism (GMS) Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniosynostosis 3, 615314;Kallman syndrome, MONDO:0018800 23354436;32620954 False 2 100;0;0 4.7 False ENSG00000140262 ENSG00000140262 HGNC:11623 GLI2 gene GLI2 Expert Review Red;NHS GMS;South West GLH;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Culler-Jones syndrome (OMIM 615849) False 1 0;0;100 4.7 False ENSG00000074047 ENSG00000074047 HGNC:4318 HAMP gene HAMP Expert Review Red;NHS GMS;South West GLH;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology BIALLELIC, autosomal or pseudoautosomal Haemochromatosis type 2B (OMIM 613313) False 1 0;0;100 4.7 False ENSG00000105697 ENSG00000105697 HGNC:15598 HFE gene HFE Expert Review Red;NHS GMS;South West GLH;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology BIALLELIC, autosomal or pseudoautosomal Haemochromatosis type 1 (OMIM 235200) False 1 0;0;100 4.7 False ENSG00000010704 ENSG00000010704 HGNC:4886 LHX4 gene LHX4 Expert Review Red;NHS GMS;South West GLH;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Combined Pituitary Hormone deficiency (OMIM 262700) False 1 0;0;100 4.7 False ENSG00000121454 ENSG00000121454 HGNC:21734 NR0B1 gene NR0B1 Expert Review Red;NHS GMS;South West GLH;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology X-LINKED: hemizygous mutation in males, biallelic mutations in females 46XY sex reversal type 2 (OMIM 300018) False 1 0;0;100 4.7 False ENSG00000169297 ENSG00000169297 HGNC:7960 NSMF gene NSMF Expert Review Red;NHS GMS;South West GLH;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 9 with or without anosmia, OMIM:614838 15362570;17235395;21700882;27803842 False 1 25;0;75 4.7 False ENSG00000165802 ENSG00000165802 HGNC:29843 SLC40A1 gene SLC40A1 Expert Review Red;NHS GMS;South West GLH;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Haemochromatosis type 4 (OMIM 606069) False 1 0;0;100 4.7 False ENSG00000138449 ENSG00000138449 HGNC:10909 SOX3 gene SOX3 Expert Review Red;NHS GMS;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology X-LINKED: hemizygous mutation in males, biallelic mutations in females Panhypopituitarism, X-linked, OMIM:312000;Panhypopituitarism, X-linked, MONDO:0010712 False 1 0;0;100 4.7 False ENSG00000134595 ENSG00000134595 HGNC:11199 TFR2 gene TFR2 Expert Review Red;NHS GMS;South West GLH;Wessex and West Midlands GLH Hypogonadotropic hypogonadism (GMS) Endocrinology BIALLELIC, autosomal or pseudoautosomal Haemochromatosis type 3 (OMIM 604250) False 1 0;0;100 4.7 False ENSG00000106327 ENSG00000106327 HGNC:11762