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 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