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 list;Expert Review Green Congenital adrenal hypoplasia Endocrinology BIALLELIC, autosomal or pseudoautosomal Achalasia-addisonianism-alacrimia syndrome, OMIM:231550;Triple-A syndrome, MONDO:0009279 False 3 100;0;0 4.11 False ENSG00000094914 ENSG00000094914 HGNC:13666 ABCD1 gene ABCD1 Expert list;Expert Review Green;NHS GMS Congenital adrenal hypoplasia Endocrinology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Adrenoleukodystrophy, OMIM:300100;Adrenoleukodystrophy, adult, OMIM:300100 20301491 False 3 67;0;33 4.11 False ENSG00000101986 ENSG00000101986 HGNC:61 AIRE gene AIRE Expert list;Expert Review Green Congenital adrenal hypoplasia Endocrinology BIALLELIC, autosomal or pseudoautosomal Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300;autoimmune polyendocrine syndrome type 1, MONDO:0009411 False 3 100;0;0 4.11 False ENSG00000160224 ENSG00000160224 HGNC:360 CDKN1C gene CDKN1C Expert Review Green;UKGTN Congenital adrenal hypoplasia Endocrinology MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies (IMAGe syndrome), 614732 22634751 False 3 100;0;0 4.11 False Other - please provide details in the comments ENSG00000129757 ENSG00000129757 HGNC:1786 CYP11A1 gene CYP11A1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital adrenal hypoplasia Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted drenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM: 613743;Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency, MONDO:0013400 11502818;29995203;31671693;30620006;35418949;39457196;12161514;15507506;16705068;18182448;19116240 False 3 100;0;0 4.11 False ENSG00000140459 ENSG00000140459 HGNC:2590 CYP11B2 gene CYP11B2 Expert Review Green;Literature;NHS GMS Congenital adrenal hypoplasia Endocrinology BIALLELIC, autosomal or pseudoautosomal Hypoaldosteronism, congenital, due to CMO I deficiency, OMIM:203400;Hypoaldosteronism, congenital, due to CMO II deficiency, OMIM:610600;Aldosterone to renin ratio raised 1594605;8439335;9360501;12788848;31302112;33098647;33438832;34415991;35848593 False 3 100;0;0 4.11 False ENSG00000179142 ENSG00000179142 HGNC:2592 MC2R gene MC2R Expert list;Expert Review Green Congenital adrenal hypoplasia Endocrinology BIALLELIC, autosomal or pseudoautosomal "Ideopathic Primary Adrenal Failure;Congenital Adrenal Hypoplasia;Glucocorticoid deficiency, due to ACTH unresponsiveness 202200" False 3 100;0;0 4.11 False ENSG00000185231 ENSG00000185231 HGNC:6930 MRAP gene MRAP Expert list;Expert Review Green Congenital adrenal hypoplasia Endocrinology BIALLELIC, autosomal or pseudoautosomal "Ideopathic Primary Adrenal Failure;Congenital Adrenal Hypoplasia;Glucocorticoid deficiency 2 607398" False 3 100;0;0 4.11 False ENSG00000170262 ENSG00000170262 HGNC:1304 NNT gene NNT Expert list;Expert Review Green Congenital adrenal hypoplasia Endocrinology BIALLELIC, autosomal or pseudoautosomal Ideopathic Primary Adrenal Failure;Congenital Adrenal Hypoplasia;Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency 614736 26548497;23474776 False 3 100;0;0 4.11 False ENSG00000112992 ENSG00000112992 HGNC:7863 NR0B1 gene NR0B1 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Congenital adrenal hypoplasia Endocrinology X-LINKED: hemizygous mutation in males, biallelic mutations in females 46XY sex reversal 2, dosage-sensitive, 300018; Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism, 300200;Adrenal Hypoplasia, Congenital; AHC;Ideopathic Primary Adrenal Failure; Congenital Adrenal Hypoplasia;males with combined glucocorticoid and mineralocorticoid insufficiency with a family history consistent with an X-linked disorder 7990958;26303087;19320032;19320031;19320029;19320028;19309798 False 3 100;0;0 4.11 False ENSG00000169297 ENSG00000169297 HGNC:7960 NR5A1 gene NR5A1 Expert list;Expert Review Green Congenital adrenal hypoplasia Endocrinology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ideopathic Primary Adrenal Failure; Congenital Adrenal Hypoplasia False 3 100;0;0 4.11 False ENSG00000136931 ENSG00000136931 HGNC:7983 POLE gene POLE Expert Review;Expert Review Green Congenital adrenal hypoplasia Endocrinology BIALLELIC, autosomal or pseudoautosomal IMAGE-I syndrome, OMIM:618336 14760276;30503519 False 3 100;0;0 4.11 False ENSG00000177084 ENSG00000177084 HGNC:9177 SAMD9 gene SAMD9 Expert Review Green;Literature Congenital adrenal hypoplasia Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MIRAGE syndrome, 617053 27182967 False 3 100;0;0 4.11 True Other - please provide details in the comments ENSG00000205413 ENSG00000205413 HGNC:1348 SGPL1 gene SGPL1 Expert list;Expert Review Green Congenital adrenal hypoplasia Endocrinology BIALLELIC, autosomal or pseudoautosomal Adrenal insufficiency;steroid resistant nephrotic syndrome;neurological deficit;ichthyosis 28165343;28165339 False 3 0;0;0 4.11 False ENSG00000166224 ENSG00000166224 HGNC:10817 STAR gene STAR Expert list;Expert Review Green Congenital adrenal hypoplasia Endocrinology BIALLELIC, autosomal or pseudoautosomal Ideopathic Primary Adrenal Failure;Congenital Adrenal Hypoplasia;Lipoid adrenal hyperplasia, 201710 False 3 100;0;0 4.11 False ENSG00000147465 ENSG00000147465 HGNC:11359 TBX19 gene TBX19 Expert list;Expert Review Green Congenital adrenal hypoplasia Endocrinology BIALLELIC, autosomal or pseudoautosomal "Isolated ACTH insufficiency;Adrenocorticotropic hormone deficiency 201400" 16390921 (TPIT);15613420 (TPIT);15525497 (TPIT) False 3 0;0;100 4.11 False ENSG00000143178 ENSG00000143178 HGNC:11596 MCM4 gene MCM4 Expert list;Expert Review Amber Congenital adrenal hypoplasia Endocrinology Ideopathic Primary Adrenal Failure;Congenital Adrenal Hypoplasia;autosomal recessive growth retardation, adrenal insufficiency, and a selective NK cell deficiency 22354167;22354170 False 2 100;0;0 4.11 False ENSG00000104738 ENSG00000104738 HGNC:6947 CYP17A1 gene CYP17A1 UKGTN Congenital adrenal hypoplasia Endocrinology Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency;hypergonadotropic hypogonadism, adrenal insufficiency and mineralocorticoid excess 24593890 (article in Spanish) False 1 0;0;100 4.11 False ENSG00000148795 ENSG00000148795 HGNC:2593 CYP21A2 gene CYP21A2 UKGTN Congenital adrenal hypoplasia Endocrinology Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency False 1 0;0;100 4.11 False ENSG00000231852 ENSG00000231852 HGNC:2600 HSD3B2 gene HSD3B2 Expert list;Expert Review Red Congenital adrenal hypoplasia Endocrinology BIALLELIC, autosomal or pseudoautosomal Adrenal hyperplasia, Congenital, Due To 3-beta-Hydroxysteroid Dehydrogenase Deficiency type 2 with or without salt-loss;variabe effects on sex steroid synthesis;Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency 201810 False 1 0;0;100 4.11 False ENSG00000203859 ENSG00000203859 HGNC:5218 KDM1A gene KDM1A Expert Review;Expert Review Red Congenital adrenal hypoplasia Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728;congenital adrenal hyperplasia, MONDO:0018479 34906447 False 1 50;0;50 4.11 False ENSG00000004487 ENSG00000004487 HGNC:29079 POMC gene POMC Radboud University Medical Center, Nijmegen Congenital adrenal hypoplasia Endocrinology Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734; {Obesity, early-onset, susceptibility to}, 601665 False 1 0;0;100 4.11 False ENSG00000115138 ENSG00000115138 HGNC:9201 TXNRD2 gene TXNRD2 Expert list;Expert Review Red Congenital adrenal hypoplasia Endocrinology BIALLELIC, autosomal or pseudoautosomal Familial glucocorticoid deficiency PMC4207928;24601690 False 1 0;0;100 4.11 False ENSG00000184470 ENSG00000184470 HGNC:18155