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 AAAS gene AAAS Expert Review Green;Mackenzie's Mission Adrenal insufficiency Adrenal disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Achalasia-addisonianism-alacrimia syndrome, 231550 (3) Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 29255950 False 3 100;0;0 0.76 True ENSG00000094914 ENSG00000094914 HGNC:13666 ABCD1 gene ABCD1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Adrenal insufficiency Adrenal disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Adrenoleukodystrophy MIM#300100 Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 False 3 100;0;0 0.76 True ENSG00000101986 ENSG00000101986 HGNC:61 AIRE gene AIRE Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Adrenal insufficiency Adrenal disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300 Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 False 3 100;0;0 0.76 True ENSG00000160224 ENSG00000160224 HGNC:360 CDKN1C gene CDKN1C Expert Review Green;Victorian Clinical Genetics Services Adrenal insufficiency Adrenal disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) IMAGe syndrome, MIM# 614732 Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 22634751;33076988;31976094;31497289 False 3 100;0;0 0.76 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000129757 ENSG00000129757 HGNC:1786 CPOX gene CPOX Expert Review Green;Literature Adrenal insufficiency Adrenal disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal harderoporphyria, MONDO:0030048 Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 40857591;40481674;40296768 False 3 100;0;0 0.76 True ENSG00000080819 ENSG00000080819 HGNC:2321 CYP11A1 gene CYP11A1 Expert Review Green;Victorian Clinical Genetics Services Adrenal insufficiency Adrenal disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743 Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 12161514;16705068;18182448;28425981 False 3 100;0;0 0.76 True ENSG00000140459 ENSG00000140459 HGNC:2590 CYP11B1 gene CYP11B1 Expert Review Green;Victorian Clinical Genetics Services Adrenal insufficiency Adrenal disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010 Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 8768848 False 3 100;0;0 0.76 True ENSG00000160882 ENSG00000160882 HGNC:2591 CYP11B2 gene CYP11B2 Expert Review Green;Victorian Clinical Genetics Services Adrenal insufficiency Adrenal disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600). Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 8439335;9360501;15240589;9814506;12788848;8772616 False 3 100;0;0 0.76 True ENSG00000179142 ENSG00000179142 HGNC:2592 CYP17A1 gene CYP17A1 Expert list;Expert Review Green Adrenal insufficiency Adrenal disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110 Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 PMID: 2843762, 14671162, 2026124 False 3 100;0;0 0.76 True ENSG00000148795 ENSG00000148795 HGNC:2593 CYP21A2 gene CYP21A2 Expert list;Expert Review Green Adrenal insufficiency Adrenal disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 False 3 100;0;0 0.76 True ENSG00000231852 ENSG00000231852 HGNC:2600 FOXA2 gene FOXA2 Expert Review Green;Genomics England PanelApp Adrenal insufficiency Adrenal disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypopituitarism, MONDO:0005152;Hyperinsulinism, MONDO:0002177 Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 28973288, 29329447, 30414530, 33729509, 31294511, 33999151 False 3 100;0;0 0.76 True ENSG00000125798 ENSG00000125798 HGNC:5022 GLI2 gene GLI2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Adrenal insufficiency Adrenal disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Culler-Jones syndrome (615849);Holoprosencephaly 9 (610829) Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 14581620;17096318;33235745;27585885;15994174;20685856;30629636;30583238 False 3 100;0;0 0.76 True ENSG00000074047 ENSG00000074047 HGNC:4318 GLI3 gene GLI3 Expert Review Green;Genomics England PanelApp Adrenal insufficiency Adrenal disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Greig cephalopolysyndactyly syndrome (175700);Pallister-Hall syndrome (146510) Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 24736735;15739154;9054938 10945658 11693785 False 3 100;0;0 0.76 True ENSG00000106571 ENSG00000106571 HGNC:4319 HESX1 gene HESX1 Expert Review Green;Genomics England PanelApp Adrenal insufficiency Adrenal disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Growth hormone deficiency with pituitary anomalies (182230);Pituitary hormone deficiency, combined, 5 (182230) Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 14561704;26781211;11136712;16940453 False 3 100;0;0 0.76 True ENSG00000163666 ENSG00000163666 HGNC:4877 HID1 gene HID1 Expert Review Green;Literature Adrenal insufficiency Adrenal disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 105 with hypopituitarism MIM#619983 Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 33999436 False 3 100;0;0 0.76 True ENSG00000167861 ENSG00000167861 HGNC:15736 HSD17B4 gene HSD17B4 ClinGen;Expert Review Green;Literature Adrenal insufficiency Adrenal disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal d-bifunctional protein deficiency, MONDO:0009855 Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 40416444;32904102;32528852 False 3 100;0;0 0.76 True ENSG00000133835 ENSG00000133835 HGNC:5213 HSD3B2 gene HSD3B2 Expert Review Green;Victorian Clinical Genetics Services Adrenal insufficiency Adrenal disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810 Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 1363812;18252794 False 3 100;0;0 0.76 True ENSG00000203859 ENSG00000203859 HGNC:5218 KCNQ1 gene KCNQ1 Expert Review Green;Genomics England PanelApp Adrenal insufficiency Adrenal disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypopituitarism, MONDO:0005152 Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 29097701,38987191 False 3 100;0;0 0.76 True ENSG00000053918 ENSG00000053918 HGNC:6294 LHX3 gene LHX3 Expert Review Green;Genomics England PanelApp Adrenal insufficiency Adrenal disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 3 (221750) Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 False 3 100;0;0 0.76 True ENSG00000107187 ENSG00000107187 HGNC:6595 LHX4 gene LHX4 Expert Review Green;Genomics England PanelApp Adrenal insufficiency Adrenal disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pituitary hormone deficiency, combined, 4 (262700) Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 18073311;18445675;11567216 False 3 100;0;0 0.76 True ENSG00000121454 ENSG00000121454 HGNC:21734 LIPA gene LIPA Expert Review Green;Victorian Clinical Genetics Services Adrenal insufficiency Adrenal disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Cholesteryl ester storage disease, MIM# 278000;Wolman disease, MIM# 278000;Lysosomal acid lipase deficiency, MONDO:0010204 Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 11487567 False 3 100;0;0 0.76 True ENSG00000107798 ENSG00000107798 HGNC:6617 MC2R gene MC2R Expert Review Green;Victorian Clinical Genetics Services Adrenal insufficiency Adrenal disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200 Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 8094489;8227361 False 3 100;0;0 0.76 True ENSG00000185231 ENSG00000185231 HGNC:6930 MRAP gene MRAP Expert Review Green;Victorian Clinical Genetics Services Adrenal insufficiency Adrenal disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Glucocorticoid deficiency 2, MIM# 607398 Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 15654338 False 3 100;0;0 0.76 True ENSG00000170262 ENSG00000170262 HGNC:1304 NFKB2 gene NFKB2 Expert Review Green;Victorian Clinical Genetics Services Adrenal insufficiency Adrenal 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 Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 24140114;24888602;25524009;31417880 False 3 100;0;0 0.76 True ENSG00000077150 ENSG00000077150 HGNC:7795 NNT gene NNT Expert Review Green;Victorian Clinical Genetics Services Adrenal insufficiency Adrenal disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency - MIM#614736 Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 22634753;23474776;25879317;26070314;27129361;40709434 False 3 50;0;50 0.76 True ENSG00000112992 ENSG00000112992 HGNC:7863 NR0B1 gene NR0B1 Expert Review Green;Victorian Clinical Genetics Services Adrenal insufficiency Adrenal disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Adrenal hypoplasia, congenital (MIM# 300200);46XY sex reversal 2, dosage-sensitive, MIM# 300018" Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 19508677;26030781 False 3 100;0;0 0.76 True ENSG00000169297 ENSG00000169297 HGNC:7960 NR5A1 gene NR5A1 Expert Review Green;Victorian Clinical Genetics Services Adrenal insufficiency Adrenal disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Adrenocortical insufficiency, (MIM#612964);46, XX sex reversal 4, (MIM# 617480);Premature ovarian failure 7, (MIM#612964);Spermatogenic failure 8, (MIM#613957);46XY sex reversal 3, (MIM#612965) Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 31513305;38650427;20453312 False 3 50;50;0 0.76 True ENSG00000136931 ENSG00000136931 HGNC:7983 OTX2 gene OTX2 Expert Review Green;Genomics England PanelApp Adrenal insufficiency Adrenal disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pituitary hormone deficiency, combined, 6 (613986);Microphthalmia, syndromic 5 (610125) Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 19965921;22715480;18628516;18728160 False 3 100;0;0 0.76 True ENSG00000165588 ENSG00000165588 HGNC:8522 PCSK1 gene PCSK1 Expert Review Green;Victorian Clinical Genetics Services Adrenal insufficiency Adrenal disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Obesity with impaired prohormone processing MIM#600955 Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 30383237 False 3 100;0;0 0.76 True ENSG00000175426 ENSG00000175426 HGNC:8743 PEX1 gene PEX1 Expert Review Green;Literature Adrenal insufficiency Adrenal disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 1A (Zellweger) MIM#214100 Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 False 3 100;0;0 0.76 True ENSG00000127980 ENSG00000127980 HGNC:8850 POLE gene POLE Expert Review Green;Literature Adrenal insufficiency Adrenal disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal IMAGE-I syndrome, MONDO:0032684 Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 30503519 False 3 100;0;0 0.76 True ENSG00000177084 ENSG00000177084 HGNC:9177 POMC gene POMC Expert Review Green;Victorian Clinical Genetics Services Adrenal insufficiency Adrenal disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734 Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 33666293 False 3 100;0;0 0.76 True ENSG00000115138 ENSG00000115138 HGNC:9201 POR gene POR Expert Review Green;Victorian Clinical Genetics Services Adrenal insufficiency Adrenal disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750;Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571 Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 27068427 False 3 100;0;0 0.76 True ENSG00000127948 ENSG00000127948 HGNC:9208 PROP1 gene PROP1 Expert Review Green;Genomics England PanelApp Adrenal insufficiency Adrenal disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 2 MIM# 262600 Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 20301521, 31090814 False 3 100;0;0 0.76 True ENSG00000175325 ENSG00000175325 HGNC:9455 ROBO1 gene ROBO1 Expert Review Green;Literature Adrenal insufficiency Adrenal 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" Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 PMID: 30530901;30692597;33270637;28402530 False 3 100;0;0 0.76 True ENSG00000169855 ENSG00000169855 HGNC:10249 SAMD9 gene SAMD9 Expert Review;Expert Review Green Adrenal insufficiency Adrenal disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "MIRAGE syndrome (MIM#617053)" Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 27182967 False 3 100;0;0 0.76 True ENSG00000205413 ENSG00000205413 HGNC:1348 SGPL1 gene SGPL1 Expert Review Green;Victorian Clinical Genetics Services Adrenal insufficiency Adrenal disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal RENI syndrome (MIM#617575) Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 33074640 False 3 100;0;0 0.76 True ENSG00000166224 ENSG00000166224 HGNC:10817 SOX3 gene SOX3 Expert Review Green;Genomics England PanelApp Adrenal insufficiency Adrenal 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) Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 24346842;15800844;21289259;24737742 False 3 50;50;0 0.76 True ENSG00000134595 ENSG00000134595 HGNC:11199 STAR gene STAR Expert Review Green;Victorian Clinical Genetics Services Adrenal insufficiency Adrenal disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Lipoid adrenal hyperplasia (MIM#201710) Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 7892608;8634702 False 3 100;0;0 0.76 True ENSG00000147465 ENSG00000147465 HGNC:11359 TBC1D32 gene TBC1D32 Expert Review Green;Literature Adrenal insufficiency Adrenal disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Syndromic hypopituitarism Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 32573025;32060556;24285566;31130284;36826837;40319332 False 3 50;50;0 0.76 True ENSG00000146350 ENSG00000146350 HGNC:21485 TBCE gene TBCE Expert Review Green;Literature Adrenal insufficiency Adrenal disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal hypoparathyroidism-retardation-dysmorphism syndrome, MONDO:0009426 Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 39086450 False 3 100;0;0 0.76 True ENSG00000116957 ENSG00000116957 HGNC:11582 TBX19 gene TBX19 Expert Review Green;Genomics England PanelApp Adrenal insufficiency Adrenal disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Adrenocorticotropic hormone deficiency, 201400 Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 15613420, 31998673, 11290323, 15476446, 22170728 False 3 100;0;0 0.76 True ENSG00000143178 ENSG00000143178 HGNC:11596 TXNRD2 gene TXNRD2 Expert Review Green;Victorian Clinical Genetics Services Adrenal insufficiency Adrenal disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Glucocorticoid deficiency 5 (GCCD5), MIM#617825;MONDO:0040502 Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 24601690;21247928;34258490;40726908;38011841;39097530 False 3 50;50;0 0.76 True ENSG00000184470 ENSG00000184470 HGNC:18155 ZRSR2 gene ZRSR2 Expert Review Green;Literature Adrenal insufficiency Adrenal disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Orofaciodigital syndrome XXI, MIM# 301132 Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244 38158857 False 3 100;0;0 0.76 True ENSG00000169249 ENSG00000169249 HGNC:23019