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 BTK gene BTK Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency 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 0.35 True ENSG00000010671 ENSG00000010671 HGNC:1133 CHD7 gene CHD7 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency 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 0.35 True ENSG00000171316 ENSG00000171316 HGNC:20626 FGF8 gene FGF8 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency 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 0;0;0 0.35 False ENSG00000107831 ENSG00000107831 HGNC:3686 FGFR1 gene FGFR1 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Jackson-Weiss syndrome (123150);Pfeiffer syndrome (101600);Hypogonadotropic hypogonadism 2 with or without anosmia (147950);Hartsfield syndrome (615465) Hypopituitarism;HP:0040075 22319038;25759380 False 3 0;0;0 0.35 False ENSG00000077782 ENSG00000077782 HGNC:3688 FOXA2 gene FOXA2 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown No OMIM number;Congenital hyperinsulinism;Congenital hypopituitarism Hypopituitarism;HP:0040075 28973288;29329447;30414530 False 3 0;0;0 0.35 False ENSG00000125798 ENSG00000125798 HGNC:5022 GH1 gene GH1 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency 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 False 3 0;0;0 0.35 False ENSG00000259384 ENSG00000259384 HGNC:4261 GHR gene GHR Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Growth hormone insensitivity, partial (604271);Increased responsiveness to growth hormone (604271);Laron dwarfism (262500) Hypopituitarism;HP:0040075 False 3 0;0;0 0.35 False ENSG00000112964 ENSG00000112964 HGNC:4263 GHRHR gene GHRHR Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Growth hormone deficiency, isolated, type IV (618157) Hypopituitarism;HP:0040075 False 3 0;0;0 0.35 False ENSG00000106128 ENSG00000106128 HGNC:4266 GLI2 gene GLI2 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Culler-Jones syndrome (615849);Holoprosencephaly 9 (610829) Hypopituitarism;HP:0040075 14581620;25878059 False 3 0;0;0 0.35 False ENSG00000074047 ENSG00000074047 HGNC:4318 GLI3 gene GLI3 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Greig cephalopolysyndactyly syndrome (175700);Pallister-Hall syndrome (146510) Hypopituitarism;HP:0040075 24736735;15739154 False 3 0;0;0 0.35 False ENSG00000106571 ENSG00000106571 HGNC:4319 GNRHR gene GNRHR Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 7 without anosmia (146110) Hypopituitarism;HP:0040075 False 3 0;0;0 0.35 False ENSG00000109163 ENSG00000109163 HGNC:4421 HESX1 gene HESX1 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency 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 0;0;0 0.35 False ENSG00000163666 ENSG00000163666 HGNC:4877 HID1 gene HID1 Expert Review Green;Literature Pituitary hormone deficiency Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Syndromic infantile encephalopathy;Hypopituitarism Hypopituitarism;HP:0040075 33999436 False 3 100;0;0 0.35 True ENSG00000167861 ENSG00000167861 HGNC:15736 IGSF1 gene IGSF1 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency 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 0.35 True ENSG00000147255 ENSG00000147255 HGNC:5948 LHX3 gene LHX3 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 3 (221750) Hypopituitarism;HP:0040075 False 3 0;0;0 0.35 False ENSG00000107187 ENSG00000107187 HGNC:6595 LHX4 gene LHX4 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pituitary hormone deficiency, combined, 4 (262700) Hypopituitarism;HP:0040075 18073311;18445675;11567216 False 3 0;0;0 0.35 False ENSG00000121454 ENSG00000121454 HGNC:21734 OTX2 gene OTX2 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency 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 0;0;0 0.35 False ENSG00000165588 ENSG00000165588 HGNC:8522 PITX2 gene PITX2 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency 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 0;0;0 0.35 False ENSG00000164093 ENSG00000164093 HGNC:9005 PNPLA6 gene PNPLA6 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency 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 0;0;0 0.35 False ENSG00000032444 ENSG00000032444 HGNC:16268 POU1F1 gene POU1F1 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency 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 0.35 True ENSG00000064835 ENSG00000064835 HGNC:9210 PROKR2 gene PROKR2 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism 3 with or without anosmia (244200) Hypopituitarism;HP:0040075 22319038;25678757;25759380 False 3 0;0;0 0.35 False ENSG00000101292 ENSG00000101292 HGNC:15836 PROP1 gene PROP1 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 2 (262600) Hypopituitarism;HP:0040075 False 3 0;0;0 0.35 False ENSG00000175325 ENSG00000175325 HGNC:9455 RNPC3 gene RNPC3 Expert Review Green;Literature Pituitary hormone deficiency Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Growth hormone deficiency;Intellectual disability Hypopituitarism;HP:0040075 29866761;32462814;33650182 False 3 100;0;0 0.35 True ENSG00000185946 ENSG00000185946 HGNC:18666 ROBO1 gene ROBO1 Expert Review Green;Literature Pituitary hormone deficiency 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 0.35 True ENSG00000169855 ENSG00000169855 HGNC:10249 SOX2 gene SOX2 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microphthalmia, syndromic 3 (206900) Hypopituitarism;HP:0040075 29371155;16932809;30450772 False 3 0;0;0 0.35 False ENSG00000181449 ENSG00000181449 HGNC:11195 TBL1X gene TBL1X Expert Review Green;Literature Pituitary hormone deficiency 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 0.35 True ENSG00000101849 ENSG00000101849 HGNC:11585 TBX19 gene TBX19 Expert Review Green;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Adrenocorticotropic hormone deficiency (201400) Hypopituitarism;HP:0040075 22170728;11290323;15476446 False 3 0;0;0 0.35 False ENSG00000143178 ENSG00000143178 HGNC:11596 ZRSR2 gene ZRSR2 Expert Review Green;Literature Pituitary hormone deficiency 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 0.35 True ENSG00000169249 ENSG00000169249 HGNC:23019 CDON gene CDON Expert Review Amber;Genomics England PanelApp Pituitary hormone deficiency 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 0.35 True ENSG00000064309 ENSG00000064309 HGNC:17104 GHSR gene GHSR Expert Review Amber;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Growth hormone deficiency, isolated partial (615925) Hypopituitarism;HP:0040075 19789204;25557026;16511605 False 2 0;100;0 0.35 True ENSG00000121853 ENSG00000121853 HGNC:4267 KCNQ1 gene KCNQ1 Expert Review Amber;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pituitary hormone deficiency;Long QT syndrome 1 (192500) Hypopituitarism;HP:0040075 29097701 False 2 0;0;0 0.35 False ENSG00000053918 ENSG00000053918 HGNC:6294 RBM28 gene RBM28 Expert Review Amber;Genomics England PanelApp Pituitary hormone deficiency 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 0.35 True ENSG00000106344 ENSG00000106344 HGNC:21863 SHH gene SHH Expert Review Amber;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microphthalmia with coloboma 5 (611638);Holoprosencephaly 3 (142945) Hypopituitarism;HP:0040075 22897141 False 2 0;0;0 0.35 False ENSG00000164690 ENSG00000164690 HGNC:10848 SOX3 gene SOX3 Expert Review Amber;Genomics England PanelApp Pituitary hormone deficiency 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 2 0;100;0 0.35 True ENSG00000134595 ENSG00000134595 HGNC:11199 TBC1D32 gene TBC1D32 Expert Review Amber;Literature Pituitary hormone deficiency Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Syndromic hypopituitarism Hypopituitarism;HP:0040075 32573025;32060556 False 2 0;100;0 0.35 True ENSG00000146350 ENSG00000146350 HGNC:21485 TCF7L1 gene TCF7L1 Expert Review Amber;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown No OMIM number;pituitary hormone deficiency Hypopituitarism;HP:0040075 26764381 False 2 0;0;0 0.35 False ENSG00000152284 ENSG00000152284 HGNC:11640 ARNT2 gene ARNT2 Expert Review Red;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders BIALLELIC, autosomal or pseudoautosomal ?Webb-Dattani syndrome (615926) Hypopituitarism;HP:0040075 24022475 False 1 0;0;0 0.35 False ENSG00000172379 ENSG00000172379 HGNC:16876 BMP2 gene BMP2 Expert Review Red;Genomics England PanelApp Pituitary hormone deficiency 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 0.35 False ENSG00000125845 ENSG00000125845 HGNC:1069 BMP4 gene BMP4 Expert Review Red;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microphthalmia, syndromic 6 (607932) Hypopituitarism;HP:0040075 24289245 False 1 0;0;0 0.35 False ENSG00000125378 ENSG00000125378 HGNC:1071 FOXH1 gene FOXH1 Expert Review Red;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders Unknown Holoprosencephaly;No OMIM number Hypopituitarism;HP:0040075 False 1 0;0;0 0.35 False ENSG00000160973 ENSG00000160973 HGNC:3814 GHRH gene GHRH Expert Review Red;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders Unknown No OMIM number;?Isolated growth hormone deficiency due to defect in GHRF Hypopituitarism;HP:0040075 15155578 False 1 0;0;0 0.35 False ENSG00000118702 ENSG00000118702 HGNC:4265 GPR161 gene GPR161 Expert Review Red;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders Unknown No OMIM number;pituitary stalk interruption syndrome Hypopituitarism;HP:0040075 25322266 False 1 0;0;0 0.35 False ENSG00000143147 ENSG00000143147 HGNC:23694 HHIP gene HHIP Expert Review Red;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders Unknown No OMIM number Hypopituitarism;HP:0040075 False 1 0;0;0 0.35 False ENSG00000164161 ENSG00000164161 HGNC:14866 HNRNPU gene HNRNPU Expert Review Red;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 54 (617391) Hypopituitarism;HP:0040075 False 1 0;0;0 0.35 False ENSG00000153187 ENSG00000153187 HGNC:5048 NODAL gene NODAL Expert Review Red;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly;Heterotaxy, visceral, 5 (270100) Hypopituitarism;HP:0040075 False 1 0;0;0 0.35 False ENSG00000156574 ENSG00000156574 HGNC:7865 PAX6 gene PAX6 Expert Review Red;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Aniridia (106210) Hypopituitarism;HP:0040075 25342853 False 1 0;0;0 0.35 False ENSG00000007372 ENSG00000007372 HGNC:8620 POLR3A gene POLR3A Expert Review Red;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (607694) Hypopituitarism;HP:0040075 False 1 0;0;0 0.35 False ENSG00000148606 ENSG00000148606 HGNC:30074 PSTPIP1 gene PSTPIP1 Expert Review Red;Genomics England PanelApp Pituitary hormone deficiency 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;0 0.35 False ENSG00000140368 ENSG00000140368 HGNC:9580 PTCH1 gene PTCH1 Expert Review Red;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 7 (610828) Hypopituitarism;HP:0040075 11941477 False 1 0;0;0 0.35 False ENSG00000185920 ENSG00000185920 HGNC:9585 SIX3 gene SIX3 Expert Review Red;Genomics England PanelApp Pituitary hormone deficiency 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 0.35 True ENSG00000138083 ENSG00000138083 HGNC:10889 SLC15A4 gene SLC15A4 Expert Review Red;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders Unknown No OMIM number Hypopituitarism;HP:0040075 29261175 False 1 0;0;0 0.35 False ENSG00000139370 ENSG00000139370 HGNC:23090 SLC20A1 gene SLC20A1 Expert Review Red;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders Unknown No OMIM number Hypopituitarism;HP:0040075 False 1 0;0;0 0.35 False ENSG00000144136 ENSG00000144136 HGNC:10946 TGIF1 gene TGIF1 Expert Review Red;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 4 (142946) Hypopituitarism;HP:0040075 23476075 False 1 0;0;0 0.35 False ENSG00000177426 ENSG00000177426 HGNC:11776 WDR11 gene WDR11 Expert Review Red;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism 14 with or without anosmia (614858) Hypopituitarism;HP:0040075 False 1 0;0;0 0.35 False ENSG00000120008 ENSG00000120008 HGNC:13831 ZIC2 gene ZIC2 Expert Review Red;Genomics England PanelApp Pituitary hormone deficiency Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 5 (609637) Hypopituitarism;HP:0040075 24706429 False 1 0;0;0 0.35 False ENSG00000043355 ENSG00000043355 HGNC:12873 ZSWIM6 gene ZSWIM6 Expert Review Red;Genomics England PanelApp Pituitary hormone deficiency 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 0;0;0 0.35 False ENSG00000130449 ENSG00000130449 HGNC:29316