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