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 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