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 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