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 Pituitary hormone deficiency 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 Hypopituitarism;HP:0040075 1594017;8504298;8989261 False 3 100;0;0 0.226 True ENSG00000011201 ENSG00000011201 HGNC:6211 ARHGAP35 gene ARHGAP35 Expert Review Green;Literature Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism, MONDO:0015770, ARHGAP35-related Hypopituitarism;HP:0040075 PMID: 36178483 False 3 100;0;0 0.226 True ENSG00000160007 ENSG00000160007 HGNC:4591 BMP4 gene BMP4 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microphthalmia, syndromic 6, MIM#607932 Hypopituitarism;HP:0040075 31120642, 24289245, 18252212, 35633847 False 3 100;0;0 0.226 True ENSG00000125378 ENSG00000125378 HGNC:1071 BRAF gene BRAF Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome, MONDO:0015280 Hypopituitarism;HP:0040075 33795686 False 3 100;0;0 0.226 True ENSG00000157764 ENSG00000157764 HGNC:1097 BTK gene BTK Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Isolated growth hormone deficiency, type III, with agammaglobulinemia (307200) Hypopituitarism;HP:0040075 9554752;8013627;7849697 False 3 100;0;0 0.226 True ENSG00000010671 ENSG00000010671 HGNC:1133 CHD7 gene CHD7 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism 5 with or without anosmia (612370);CHARGE syndrome (214800) Hypopituitarism;HP:0040075 29152903;30733481;18834967 False 3 100;0;0 0.226 True ENSG00000171316 ENSG00000171316 HGNC:20626 CPE gene CPE Expert Review;Expert Review Green Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal BDV syndrome MONDO:0859150 Hypopituitarism;HP:0040075 26120850;32936766;34383079 False 3 67;33;0 0.226 True ENSG00000109472 ENSG00000109472 HGNC:2303 CUL4B gene CUL4B Expert list;Expert Review Green;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Mental retardation, X-linked, syndromic 15 (Cabezas type) 300354" Hypopituitarism;HP:0040075 PMID: 25385192 False 3 100;0;0 0.226 True ENSG00000158290 ENSG00000158290 HGNC:2555 DCAF17 gene DCAF17 Expert Review;Expert Review Green Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Woodhouse-Sakati syndrome, MIM# 241080" Hypopituitarism;HP:0040075 19026396;20507343;35002959;34877714;34732557;34590781 False 3 100;0;0 0.226 True ENSG00000115827 ENSG00000115827 HGNC:25784 DLG2 gene DLG2 Expert Review Green;Literature Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown delayed puberty, self-limited, MONDO:0859205 Hypopituitarism;HP:0040075 32341572 False 3 100;0;0 0.226 True ENSG00000150672 ENSG00000150672 HGNC:2901 EIF2S3 gene EIF2S3 Expert Review Green;Genetic Health Queensland Pituitary hormone deficiency Pituitary disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females MEHMO syndrome, MIM# 300148 Hypopituitarism;HP:0040075 23063529;27333055;28055140;32799315 False 3 100;0;0 0.226 True ENSG00000130741 ENSG00000130741 HGNC:3267 FGF17 gene FGF17 Expert Review Green;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 20 with or without anosmia, MIM# 615270 Hypopituitarism;HP:0040075 23643382;31748124 False 3 100;0;0 0.226 True ENSG00000158815 ENSG00000158815 HGNC:3673 FGF8 gene FGF8 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism 6 with or without anosmia (612702) Hypopituitarism;HP:0040075 22319038;21832120;20463092 False 3 100;0;0 0.226 True ENSG00000107831 ENSG00000107831 HGNC:3686 FGFR1 gene FGFR1 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism 2 with or without anosmia 147950 Hypopituitarism;HP:0040075 12627230, 18034870, 16606836, 15001591 False 3 100;0;0 0.226 True ENSG00000077782 ENSG00000077782 HGNC:3688 FOXA2 gene FOXA2 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypopituitarism, MONDO:0005152;Hyperinsulinism, MONDO:0002177 Hypopituitarism;HP:0040075 28973288, 29329447, 30414530, 33729509, 31294511, 33999151 False 3 100;0;0 0.226 True ENSG00000125798 ENSG00000125798 HGNC:5022 FSHB gene FSHB Expert Review Green;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 24 without anosmia, MIM#229070 Hypopituitarism;HP:0040075 8220432;9280841;9624193;9806482;9271483;16630814 False 3 100;0;0 0.226 True ENSG00000131808 ENSG00000131808 HGNC:3964 GH1 gene GH1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Growth hormone deficiency, isolated, type IA (262400);Growth hormone deficiency, isolated, type IB (612781);Growth hormone deficiency, isolated, type II (173100) Hypopituitarism;HP:0040075 2840669;1603635;12655557;15671105;8552145;9276733;15713716 False 3 100;0;0 0.226 True ENSG00000259384 ENSG00000259384 HGNC:4261 GHR gene GHR Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Growth hormone insensitivity, partial (604271);Increased responsiveness to growth hormone (604271);Laron dwarfism (262500) Hypopituitarism;HP:0040075 1999489;8488849;7565946 False 3 100;0;0 0.226 True ENSG00000112964 ENSG00000112964 HGNC:4263 GHRHR gene GHRHR Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Growth hormone deficiency, isolated, type IV (618157) Hypopituitarism;HP:0040075 8528260;10084571;11232012 False 3 100;0;0 0.226 True ENSG00000106128 ENSG00000106128 HGNC:4266 GHSR gene GHSR Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Growth hormone deficiency, isolated partial (615925) Hypopituitarism;HP:0040075 19789204;25557026;16511605;39785833;25557026;37443653;38838658;37019085;30753492;36714562 False 3 100;0;0 0.226 True ENSG00000121853 ENSG00000121853 HGNC:4267 GLI2 gene GLI2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Culler-Jones syndrome (615849);Holoprosencephaly 9 (610829) Hypopituitarism;HP:0040075 14581620;17096318;33235745;27585885;15994174;20685856;30629636;30583238 False 3 100;0;0 0.226 True ENSG00000074047 ENSG00000074047 HGNC:4318 GLI3 gene GLI3 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Greig cephalopolysyndactyly syndrome (175700);Pallister-Hall syndrome (146510) Hypopituitarism;HP:0040075 24736735;15739154;9054938 10945658 11693785 False 3 100;0;0 0.226 True ENSG00000106571 ENSG00000106571 HGNC:4319 GNAI2 gene GNAI2 Expert Review Green;Literature Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic disease MONDO:0002254, GNAI2-related Hypopituitarism;HP:0040075 31036916;40926810;39298586 False 3 100;0;0 0.226 True ENSG00000114353 ENSG00000114353 HGNC:4385 GNRH1 gene GNRH1 Expert Review Green;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841 Hypopituitarism;HP:0040075 19535795;19567835;32134721;31200363;26595427 False 3 100;0;0 0.226 True ENSG00000147437 ENSG00000147437 HGNC:4419 GNRHR gene GNRHR Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 7 without anosmia (146110) Hypopituitarism;HP:0040075 False 3 100;0;0 0.226 True ENSG00000109163 ENSG00000109163 HGNC:4421 HESX1 gene HESX1 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Growth hormone deficiency with pituitary anomalies (182230);Pituitary hormone deficiency, combined, 5 (182230) Hypopituitarism;HP:0040075 14561704;26781211;11136712;16940453 False 3 100;0;0 0.226 True ENSG00000163666 ENSG00000163666 HGNC:4877 HID1 gene HID1 Expert Review Green;Literature Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 105 with hypopituitarism MIM#619983 Hypopituitarism;HP:0040075 33999436 False 3 100;0;0 0.226 True ENSG00000167861 ENSG00000167861 HGNC:15736 IGSF1 gene IGSF1 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypothyroidism, central, and testicular enlargement, MIM# 300888 Hypopituitarism;HP:0040075 27310681;30086211;24108313;26840047;27762734;23143598 False 3 100;0;0 0.226 True ENSG00000147255 ENSG00000147255 HGNC:5948 KCNQ1 gene KCNQ1 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypopituitarism, MONDO:0005152 Hypopituitarism;HP:0040075 29097701,38987191 False 3 100;0;0 0.226 True ENSG00000053918 ENSG00000053918 HGNC:6294 KISS1R gene KISS1R Expert Review Green;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 8 with or without anosmia (MIM#614837) Hypopituitarism;HP:0040075 17164310;31073722;14573733 False 3 100;0;0 0.226 True ENSG00000116014 ENSG00000116014 HGNC:4510 KLB gene KLB Expert Review Green;Literature Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism MONDO:0018555, KLB-related Hypopituitarism;HP:0040075 28754744 False 3 100;0;0 0.226 True ENSG00000134962 ENSG00000134962 HGNC:15527 LEPR gene LEPR Expert Review Green;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Obesity due to leptin receptor gene deficiency, MONDO:0013992 Hypopituitarism;HP:0040075 17229951;29545012;31658438 False 3 100;0;0 0.226 True ENSG00000116678 ENSG00000116678 HGNC:6554 LHB gene LHB Expert Review Green;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 23 with or without anosmia (MIM#228300) Hypopituitarism;HP:0040075 17761593;28092701;29476300;22723313;15602022 False 3 100;0;0 0.226 True ENSG00000104826 ENSG00000104826 HGNC:6584 LHX3 gene LHX3 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 3 (221750) Hypopituitarism;HP:0040075 False 3 100;0;0 0.226 True ENSG00000107187 ENSG00000107187 HGNC:6595 LHX4 gene LHX4 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pituitary hormone deficiency, combined, 4 (262700) Hypopituitarism;HP:0040075 18073311;18445675;11567216 False 3 100;0;0 0.226 True ENSG00000121454 ENSG00000121454 HGNC:21734 MAGEL2 gene MAGEL2 Expert Review Green;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Schaaf-Yang syndrome, MIM# 615547 Hypopituitarism;HP:0040075 33820833;24076603;31397880;29599419;30302899 False 3 100;0;0 0.226 True ENSG00000254585 ENSG00000254585 HGNC:6814 NEUROG3 gene NEUROG3 Expert Review Green;Literature Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Congenital malabsorptive diarrhea 4, MONDO:0012479;Hypogonadotropic hypogonadism, MONDO:0018555 Hypopituitarism;HP:0040075 36149814;27533310 False 3 100;0;0 0.226 True ENSG00000122859 ENSG00000122859 HGNC:13806 NFKB2 gene NFKB2 Expert Review Green;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency, common variable, 10 MIM# 615577;Low serum IgG, IgA, IgM;low B cell numbers;low switched memory B cells;Recurrent sinopulmonary infections, Alopecia;endocrinopathies;ACTH deficiency Hypopituitarism;HP:0040075 24140114;24888602;25524009;31417880 False 3 100;0;0 0.226 True ENSG00000077150 ENSG00000077150 HGNC:7795 NOS1 gene NOS1 Expert Review Green;Literature Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism, MONDO:0018555 Hypopituitarism;HP:0040075 36197968 False 3 100;0;0 0.226 True ENSG00000089250 ENSG00000089250 HGNC:7872 NR0B1 gene NR0B1 Expert Review Green;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Adrenal hypoplasia, congenital (MIM# 300200) Hypopituitarism;HP:0040075 19508677;26030781 False 3 100;0;0 0.226 True ENSG00000169297 ENSG00000169297 HGNC:7960 OTX2 gene OTX2 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pituitary hormone deficiency, combined, 6 (613986);Microphthalmia, syndromic 5 (610125) Hypopituitarism;HP:0040075 19965921;22715480;18628516;18728160 False 3 100;0;0 0.226 True ENSG00000165588 ENSG00000165588 HGNC:8522 PCSK1 gene PCSK1 Expert Review Green;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Obesity with impaired prohormone processing MIM#600955 Hypopituitarism;HP:0040075 30383237 False 3 100;0;0 0.226 True ENSG00000175426 ENSG00000175426 HGNC:8743 PITX2 gene PITX2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Anterior segment dysgenesis 4 (137600);Axenfeld-Rieger syndrome, type 1 (180500) Hypopituitarism;HP:0040075 False 3 100;0;0 0.226 True ENSG00000164093 ENSG00000164093 HGNC:9005 PLXNA3 gene PLXNA3 Expert Review Green;Literature Pituitary hormone deficiency Pituitary disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypogonadotropic hypogonadism Hypopituitarism;HP:0040075 PMID: 33495532 False 3 0;0;0 0.226 True ENSG00000130827 ENSG00000130827 HGNC:9101 PNPLA6 gene PNPLA6 Expert list;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Oliver-McFarlane syndrome (275400);Spastic paraplegia 39, autosomal recessive (612020);Boucher-Neuhauser syndrome (215470) Hypopituitarism;HP:0040075 25033069 False 3 100;0;0 0.226 True ENSG00000032444 ENSG00000032444 HGNC:16268 POLR3A gene POLR3A Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (607694) Hypopituitarism;HP:0040075 False 3 100;0;0 0.226 True ENSG00000148606 ENSG00000148606 HGNC:30074 POLR3B gene POLR3B Expert Review Green;Literature Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism;OMIM #614381 Hypopituitarism;HP:0040075 27512013;23355746;22036171;22036172;25339210;33005949;22855961 False 3 100;0;0 0.226 True ENSG00000013503 ENSG00000013503 HGNC:30348 POMC gene POMC Expert Review Green;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734 Hypopituitarism;HP:0040075 33666293;40513101;34177811;29858905 False 3 100;0;0 0.226 True ENSG00000115138 ENSG00000115138 HGNC:9201 POU1F1 gene POU1F1 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 1 MIM# 613038;pituitary hypoplasia;severe growth failure;combined GH, PRL and TSH deficiency;distinct facial features (prominent forehead, mid-facial hypoplasia, depressed nasal bridge, deep-set eyes and a short nose with anteverted nostrils) Hypopituitarism;HP:0040075 1302000;1472057;9392392;15928241;7833912;12773133 False 3 100;0;0 0.226 True ENSG00000064835 ENSG00000064835 HGNC:9210 PROK2 gene PROK2 Expert Review Green;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 4 with or without anosmia (MIM#610628) Hypopituitarism;HP:0040075 18559922;17054399;17959774;18285834 False 3 100;0;0 0.226 True ENSG00000163421 ENSG00000163421 HGNC:18455 PROKR2 gene PROKR2 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 3 with or without anosmia (244200) Hypopituitarism;HP:0040075 22319038;25678757;25759380;18826963;29161432 False 3 100;0;0 0.226 True ENSG00000101292 ENSG00000101292 HGNC:15836 PROP1 gene PROP1 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 2 MIM# 262600 Hypopituitarism;HP:0040075 20301521, 31090814 False 3 100;0;0 0.226 True ENSG00000175325 ENSG00000175325 HGNC:9455 RNF216 gene RNF216 Expert list;Expert Review Green Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia-hypogonadism syndrome, MONDO:0008935 Hypopituitarism;HP:0040075 25841028;23656588;38050071 False 3 100;0;0 0.226 True ENSG00000011275 ENSG00000011275 HGNC:21698 RNPC3 gene RNPC3 Expert Review Green;Literature Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Growth hormone deficiency;Intellectual disability Hypopituitarism;HP:0040075 29866761;32462814;33650182;37463572;35792517;34906446 False 3 100;0;0 0.226 True ENSG00000185946 ENSG00000185946 HGNC:18666 ROBO1 gene ROBO1 Expert Review Green;Literature Pituitary hormone deficiency 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" Hypopituitarism;HP:0040075 PMID: 30530901;30692597;33270637;28402530 False 3 100;0;0 0.226 True ENSG00000169855 ENSG00000169855 HGNC:10249 SEMA3A gene SEMA3A Expert Review;Expert Review Green Pituitary hormone deficiency 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 Hypopituitarism;HP:0040075 28075028;33369061;20301509;21059704;24124006;22927827 False 3 100;0;0 0.226 True ENSG00000075213 ENSG00000075213 HGNC:10723 SEMA3F gene SEMA3F Expert Review Green;Literature Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism Hypopituitarism;HP:0040075 PMID: 33495532 False 3 100;0;0 0.226 True ENSG00000001617 ENSG00000001617 HGNC:10728 SLC29A3 gene SLC29A3 Expert Review Green;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782 Hypopituitarism;HP:0040075 18940313;19336477;22238637 False 3 100;0;0 0.226 True ENSG00000198246 ENSG00000198246 HGNC:23096 SMCHD1 gene SMCHD1 Expert list;Expert Review Green Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Bosma arhinia microphthalmia syndrome, MIM# 603457;Arhinia, choanal atresia, microphthalmia MONDO:0011323" Hypopituitarism;HP:0040075 28067909;38808953 False 3 100;0;0 0.226 True Other ENSG00000101596 ENSG00000101596 HGNC:29090 SOX10 gene SOX10 Expert Review;Expert Review Green Pituitary hormone deficiency 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) Hypopituitarism;HP:0040075 23643381;15004559 False 3 100;0;0 0.226 True Other ENSG00000100146 ENSG00000100146 HGNC:11190 SOX11 gene SOX11 Expert Review;Expert Review Green Pituitary hormone deficiency 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 Hypopituitarism;HP:0040075 29459093;24886874;33086258;33785884;35642566;35341651 False 3 100;0;0 0.226 True ENSG00000176887 ENSG00000176887 HGNC:11191 SOX2 gene SOX2 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microphthalmia, syndromic 3, MIM# 206900 Hypopituitarism;HP:0040075 20301477, 16932809, 24211324, 21326281 False 3 100;0;0 0.226 True ENSG00000181449 ENSG00000181449 HGNC:11195 SOX3 gene SOX3 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency 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) Hypopituitarism;HP:0040075 24346842;15800844;21289259;24737742 False 3 50;50;0 0.226 True ENSG00000134595 ENSG00000134595 HGNC:11199 TAC3 gene TAC3 Expert Review Green;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 10 with or without anosmia (MIM#614839) Hypopituitarism;HP:0040075 19079066;20332248;23329188;22031817 False 3 100;0;0 0.226 True ENSG00000166863 ENSG00000166863 HGNC:11521 TACR3 gene TACR3 Expert list;Expert Review Green Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Hypogonadotropic hypogonadism 11 with or without anosmia, MIM# 614840" Hypopituitarism;HP:0040075 20332248;19079066 False 3 100;0;0 0.226 True ENSG00000169836 ENSG00000169836 HGNC:11528 TBC1D32 gene TBC1D32 Expert Review Green;Literature Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Syndromic hypopituitarism Hypopituitarism;HP:0040075 32573025;32060556;24285566;31130284;36826837;40319332 False 3 50;50;0 0.226 True ENSG00000146350 ENSG00000146350 HGNC:21485 TBL1X gene TBL1X Expert Review Green;Literature Pituitary hormone deficiency 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) Hypothyroidism, congenital, nongoitrous, 8 MIM#301033 Hypopituitarism;HP:0040075 PMID: 27603907 False 3 100;0;0 0.226 True ENSG00000101849 ENSG00000101849 HGNC:11585 TBX19 gene TBX19 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Adrenocorticotropic hormone deficiency, 201400 Hypopituitarism;HP:0040075 15613420, 31998673, 11290323, 15476446, 22170728 False 3 100;0;0 0.226 True ENSG00000143178 ENSG00000143178 HGNC:11596 TBX3 gene TBX3 Expert Review Green;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ulnar-mammary syndrome, MIM# 181450;MONDO:0008411 Hypopituitarism;HP:0040075 9207801;19938096;28145909;40485890;39788453;36937985;30550377 False 3 100;0;0 0.226 True ENSG00000135111 ENSG00000135111 HGNC:11602 TCF12 gene TCF12 Expert Review Green;Literature Pituitary hormone deficiency Pituitary disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 26 with or without anosmia, MIM# 619718;Kallmann syndrome Hypopituitarism;HP:0040075 32620954 False 3 100;0;0 0.226 True ENSG00000140262 ENSG00000140262 HGNC:11623 TUBB3 gene TUBB3 Expert Review Green;Literature Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TUBB3-related tubulinopathy, MONDO:0100154 Hypopituitarism;HP:0040075 34652576;25559402 False 3 100;0;0 0.226 True ENSG00000258947 ENSG00000258947 HGNC:20772 WDR11 gene WDR11 Expert List;Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism 14 with or without anosmia (614858) Hypopituitarism;HP:0040075 False 3 100;0;0 0.226 True ENSG00000120008 ENSG00000120008 HGNC:13831 ZRSR2 gene ZRSR2 Expert Review Green;Literature Pituitary hormone deficiency Pituitary disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Orofaciodigital syndrome XXI, MIM# 301132 Hypopituitarism;HP:0040075 38158857 False 3 100;0;0 0.226 True ENSG00000169249 ENSG00000169249 HGNC:23019 AMH gene AMH Expert Review Amber;Literature Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism, MONDO:0018555 Hypopituitarism;HP:0040075 31291191 False 2 0;100;0 0.226 True ENSG00000104899 ENSG00000104899 HGNC:464 ARNT2 gene ARNT2 Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp;Literature Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Webb-Dattani syndrome 615926 Hypopituitarism;HP:0040075 24022475, 11381139 False 2 0;100;0 0.226 True ENSG00000172379 ENSG00000172379 HGNC:16876 CCDC141 gene CCDC141 Expert Review;Expert Review Amber Pituitary hormone deficiency Pituitary disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal congenital hypogonadotropic hypogonadism, MONDO:0015770, CCDC141-related Hypopituitarism;HP:0040075 251920460;28324054;32520725;27014940 False 2 0;100;0 0.226 True ENSG00000163492 ENSG00000163492 HGNC:26821 CDON gene CDON Expert Review Amber;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 11 (614226) Hypopituitarism;HP:0040075 21802063;29749693;32729136;33270637;26529631;27974186 False 2 0;100;0 0.226 True ENSG00000064309 ENSG00000064309 HGNC:17104 CLPP gene CLPP Expert Review;Expert Review Amber Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 3, MIM# 614129 Hypopituitarism;HP:0040075 23541340;25956234;26970254;27087618;27650058;27650058;27899912 False 2 0;100;0 0.226 True ENSG00000125656 ENSG00000125656 HGNC:2084 ESRP2 gene ESRP2 Expert list;Expert Review Amber Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cleft palate, MONDO:0016064;Hypopituitarism MONDO:0005152 Hypopituitarism;HP:0040075 29805042 False 2 100;0;0 0.226 True ENSG00000103067 ENSG00000103067 HGNC:26152 FEZF1 gene FEZF1 Expert Review Amber;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 22, with or without anosmia 616030 Hypopituitarism;HP:0040075 25192046;32400067 False 2 0;100;0 0.226 True ENSG00000128610 ENSG00000128610 HGNC:22788 KISS1 gene KISS1 Expert list;Expert Review Amber Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842" Hypopituitarism;HP:0040075 22335740;25783047;22766261;17563351 False 2 0;100;0 0.226 True ENSG00000170498 ENSG00000170498 HGNC:6341 NDNF gene NDNF Expert Review Amber;Literature Pituitary hormone deficiency Pituitary disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 25 with anosmia MIM#618841 Hypopituitarism;HP:0040075 31883645;40788466 False 2 0;100;0 0.226 True ENSG00000173376 ENSG00000173376 HGNC:26256 NLGN3 gene NLGN3 Expert Review Amber;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked complex neurodevelopmental disorder MONDO:0100148;{Autism susceptibility, X-linked 1} - MIM#300425;hypogonadotropic hypogonadism MONDO:0018555 Hypopituitarism;HP:0040075 28584888;12669065;25167861 False 2 0;100;0 0.226 True ENSG00000196338 ENSG00000196338 HGNC:14289 PLXNA1 gene PLXNA1 Expert Review Amber;Literature Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism MONDO:0018555, PLXNA1-related Hypopituitarism;HP:0040075 28334861;30467832;34636164 False 2 0;100;0 0.226 True ENSG00000114554 ENSG00000114554 HGNC:9099 PLXNB1 gene PLXNB1 Expert Review Amber;Literature Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism MONDO:0018555 Hypopituitarism;HP:0040075 35170806 False 2 0;100;0 0.226 True ENSG00000164050 ENSG00000164050 HGNC:9103 POU6F2 gene POU6F2 Expert Review Amber;Literature Pituitary hormone deficiency Pituitary disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypogonadotropic hypogonadism, MONDO:0018555 Hypopituitarism;HP:0040075 37600690 False 2 0;100;0 0.226 True ENSG00000106536 ENSG00000106536 HGNC:21694 PRDM13 gene PRDM13 Expert Review Amber;Literature Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761 Hypopituitarism;HP:0040075 34730112 False 2 0;100;0 0.226 True ENSG00000112238 ENSG00000112238 HGNC:13998 RAX gene RAX Expert Review Amber;Literature Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, syndromic 16, MIM#611038 Hypopituitarism;HP:0040075 30811539, 40321348 False 2 0;100;0 0.226 True ENSG00000134438 ENSG00000134438 HGNC:18662 RBM28 gene RBM28 Expert Review Amber;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal ANE syndrome;Alopecia, neurologic defects, and endocrinopathy syndrome (612079) Hypopituitarism;HP:0040075 20231366;18439547;33941690 False 2 0;100;0 0.226 True ENSG00000106344 ENSG00000106344 HGNC:21863 RUNDC1 gene RUNDC1 Expert Review Amber;Other Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with pituitary anomalies Hypopituitarism;HP:0040075 False 2 0;100;0 0.226 True ENSG00000198863 ENSG00000198863 HGNC:25418 SHH gene SHH Expert Review Amber;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypopituitarism, MONDO:0005152;Microphthalmia with coloboma 5 (611638);Holoprosencephaly 3 (142945) Hypopituitarism;HP:0040075 22897141 False 2 0;100;0 0.226 True ENSG00000164690 ENSG00000164690 HGNC:10848 SPRY4 gene SPRY4 Expert list;Expert Review Amber Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Hypogonadotropic hypogonadism 17 with or without anosmia, MIM# 615266" Hypopituitarism;HP:0040075 23643382 False 2 0;100;0 0.226 True ENSG00000187678 ENSG00000187678 HGNC:15533 TGIF1 gene TGIF1 Expert Review Amber;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 4, MONDO:0007734 Hypopituitarism;HP:0040075 23476075, 34440302 False 2 0;100;0 0.226 True ENSG00000177426 ENSG00000177426 HGNC:11776 AKT3 gene AKT3 Expert Review Red;Literature Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283 Hypopituitarism;HP:0040075 38459620;28190287 False 1 0;0;100 0.226 True ENSG00000117020 ENSG00000117020 HGNC:393 ARHGAP5 gene ARHGAP5 Expert Review Red;Literature Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Kallmann syndrome MONDO:0018800 Hypopituitarism;HP:0040075 39308770;36178483 False 1 0;0;100 0.226 False ENSG00000100852 ENSG00000100852 HGNC:675 AXL gene AXL Expert Review;Expert Review Red Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism, MONDO:0018555, AXL-related Hypopituitarism;HP:0040075 24476074 False 1 0;0;100 0.226 True ENSG00000167601 ENSG00000167601 HGNC:905 BMP2 gene BMP2 Expert Review Red;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (617877) Hypopituitarism;HP:0040075 24289245 False 1 0;0;0 0.226 True ENSG00000125845 ENSG00000125845 HGNC:1069 DUSP6 gene DUSP6 Expert Review Red;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 19 with or without anosmia - MIM#615269 Hypopituitarism;HP:0040075 23643382;32389901 False 1 0;0;100 0.226 True ENSG00000139318 ENSG00000139318 HGNC:3072 FLRT3 gene FLRT3 Expert Review Red;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders Unknown Hypogonadotropic hypogonadism 21 with anosmia (MIM# 615271) Hypopituitarism;HP:0040075 23643382;31200363 False 1 0;0;100 0.226 True ENSG00000125848 ENSG00000125848 HGNC:3762 FOXH1 gene FOXH1 Expert Review Red;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly;No OMIM number Hypopituitarism;HP:0040075 False 1 0;0;100 0.226 True ENSG00000160973 ENSG00000160973 HGNC:3814 GHRH gene GHRH Expert Review Red;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders Unknown No OMIM number;?Isolated growth hormone deficiency due to defect in GHRF Hypopituitarism;HP:0040075 15155578 False 1 0;0;100 0.226 True ENSG00000118702 ENSG00000118702 HGNC:4265 GPR161 gene GPR161 Expert Review Red;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Pituitary stalk interruption syndrome MONDO:0019828, GPR161-related Hypopituitarism;HP:0040075 25322266 False 1 0;0;100 0.226 True ENSG00000143147 ENSG00000143147 HGNC:23694 HAMP gene HAMP Expert Review Red;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Haemochromatosis, type 2B, MIM# 613313 Hypopituitarism;HP:0040075 12469120;34828384;15198949 False 1 100;0;0 0.226 True ENSG00000105697 ENSG00000105697 HGNC:15598 HFE gene HFE Expert Review Red;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Haemochromatosis, MIM# 235200 Hypopituitarism;HP:0040075 False 1 100;0;0 0.226 True ENSG00000010704 ENSG00000010704 HGNC:4886 HFE2 gene HFE2 Expert Review Red;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2A, MIM# 602390 Hypopituitarism;HP:0040075 False 1 50;0;50 0.226 True ENSG00000168509 ENSG00000168509 HGNC:4887 HHIP gene HHIP Expert Review Red;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders Unknown No OMIM number Hypopituitarism;HP:0040075 False 1 0;0;100 0.226 True ENSG00000164161 ENSG00000164161 HGNC:14866 HNRNPU gene HNRNPU Expert Review Red;Genetic Health Queensland;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 54 (617391) Hypopituitarism;HP:0040075 False 1 50;0;50 0.226 True ENSG00000153187 ENSG00000153187 HGNC:5048 HS6ST1 gene HS6ST1 Expert Review Red;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders Other {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880 Hypopituitarism;HP:0040075 21700882 False 1 0;0;100 0.226 True ENSG00000136720 ENSG00000136720 HGNC:5201 IL17RD gene IL17RD Expert Review Red;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267 Hypopituitarism;HP:0040075 23643382;32389901 False 1 0;0;100 0.226 True ENSG00000144730 ENSG00000144730 HGNC:17616 NHLH2 gene NHLH2 Expert Review;Expert Review Red Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Hypogonadotropic hypogonadism 27 without anosmia , MIM# 619755" Hypopituitarism;HP:0040075 35066646 False 1 0;0;100 0.226 True ENSG00000177551 ENSG00000177551 HGNC:7818 NKX2-1 gene NKX2-1 Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, MONDO:0100520 Hypopituitarism;HP:0040075 10931427;27066577;26839702;26103969;33270637;30186310 False 1 50;0;50 0.226 False ENSG00000136352 ENSG00000136352 HGNC:11825 NODAL gene NODAL Expert Review Red;Genomics England PanelApp;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heterotaxy, visceral, 5 (270100) Hypopituitarism;HP:0040075 False 1 0;33;67 0.226 True ENSG00000156574 ENSG00000156574 HGNC:7865 NRP1 gene NRP1 Expert Review Red;Literature Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism MONDO:0018555 Hypopituitarism;HP:0040075 34636164;28334861 False 1 0;0;100 0.226 False ENSG00000099250 ENSG00000099250 HGNC:8004 NRP2 gene NRP2 Expert Review Red;Literature Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism, MONDO:0018555 Hypopituitarism;HP:0040075 34636164;28334861 False 1 0;0;100 0.226 True ENSG00000118257 ENSG00000118257 HGNC:8005 NSMF gene NSMF Expert list;Expert Review Red Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838" Hypopituitarism;HP:0040075 15362570;17235395;21700882 False 1 0;0;100 0.226 True ENSG00000165802 ENSG00000165802 HGNC:29843 PAX6 gene PAX6 Expert Review Red;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Aniridia (106210) Hypopituitarism;HP:0040075 25342853 False 1 50;0;50 0.226 True ENSG00000007372 ENSG00000007372 HGNC:8620 PSTPIP1 gene PSTPIP1 Expert Review Red;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly;Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (604416) Hypopituitarism;HP:0040075 False 1 0;0;100 0.226 True ENSG00000140368 ENSG00000140368 HGNC:9580 PTCH1 gene PTCH1 Expert Review Red;Genomics England PanelApp;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 7 (610828) Hypopituitarism;HP:0040075 11941477 False 1 67;0;33 0.226 True ENSG00000185920 ENSG00000185920 HGNC:9585 SEMA3E gene SEMA3E Expert Review;Expert Review Red Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal ?CHARGE syndrome (MIM#214800) Hypopituitarism;HP:0040075 25985275 False 1 0;0;100 0.226 True ENSG00000170381 ENSG00000170381 HGNC:10727 SIX3 gene SIX3 Expert Review Red;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 2 (157170);Non-acquired combined pituitary hormone deficiency MONDO:0018762 Hypopituitarism;HP:0040075 35951005 False 1 0;0;100 0.226 True ENSG00000138083 ENSG00000138083 HGNC:10889 SLC15A4 gene SLC15A4 Expert Review Red;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders Unknown No OMIM number Hypopituitarism;HP:0040075 29261175 False 1 0;0;100 0.226 True ENSG00000139370 ENSG00000139370 HGNC:23090 SLC20A1 gene SLC20A1 Expert Review Red;Genomics England PanelApp;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bladder-Exstrophy-Epispadias Complex (BEEC) Hypopituitarism;HP:0040075 False 1 50;0;50 0.226 True ENSG00000144136 ENSG00000144136 HGNC:10946 SLC40A1 gene SLC40A1 Expert Review Red;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Haemochromatosis, type 4, MIM# 606069 Hypopituitarism;HP:0040075 11431687;11518736;15956209;16351644 False 1 100;0;0 0.226 True ENSG00000138449 ENSG00000138449 HGNC:10909 TCF7L1 gene TCF7L1 Expert Review Red;Genomics England PanelApp Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Combined pituitary deficiencies, genetic form, MONDO:0013099, TCF7L1-related Hypopituitarism;HP:0040075 26764381 False 1 0;0;100 0.226 True ENSG00000152284 ENSG00000152284 HGNC:11640 TFR2 gene TFR2 Expert Review Red;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Haemochromatosis, type 3 (MIM#604250) Hypopituitarism;HP:0040075 24847265;29743178 False 1 100;0;0 0.226 True ENSG00000106327 ENSG00000106327 HGNC:11762 TTC26 gene TTC26 Expert Review Red;Literature Pituitary hormone deficiency Pituitary disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal biliary, renal, neurologic, and skeletal syndrome, MONDO:0859191 Hypopituitarism;HP:0040075 32617964 False 1 0;0;100 0.226 True ENSG00000105948 ENSG00000105948 HGNC:21882 ZIC2 gene ZIC2 Expert Review Red;Genomics England PanelApp;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 5 (609637) Hypopituitarism;HP:0040075 24706429 False 1 50;0;50 0.226 True ENSG00000043355 ENSG00000043355 HGNC:12873 ZSWIM6 gene ZSWIM6 Expert Review;Expert Review Red;Genomics England PanelApp;Victorian Clinical Genetics Services Pituitary hormone deficiency Pituitary disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (617865);Acromelic frontonasal dysostosis (603671) Hypopituitarism;HP:0040075 False 1 33;33;33 0.226 True ENSG00000130449 ENSG00000130449 HGNC:29316 SOX3_PHPX_GCN str SOX3 Expert list;Expert Review Green;Expert Review Green;Expert list Pituitary hormone deficiency Pituitary disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123;Panhypopituitarism, X-linked MIM#312000 Hypopituitarism;HP:0040075 12428212;15800844;33811808;23505376;19654509 False 3 100;0;0 0.226 False ENSG00000134595 ENSG00000134595 HGNC:11199 X 139586482 139586526 140504317 140504361 GCN 15 22