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 Green;NHS GMS Differences in sex development Endocrinology BIALLELIC, autosomal or pseudoautosomal Persistent Mullerian duct syndrome, type I, 261550 28528332 False 3 100;0;0 4.20 False ENSG00000104899 ENSG00000104899 HGNC:464 AMHR2 gene AMHR2 Expert Review Green;NHS GMS Differences in sex development Endocrinology BIALLELIC, autosomal or pseudoautosomal Persistent Mullerian duct syndrome, type II, 261550 28528332 False 3 100;0;0 4.20 False ENSG00000135409 ENSG00000135409 HGNC:465 AR gene AR Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Differences in sex development Endocrinology X-LINKED: hemizygous mutation in males, biallelic mutations in females Androgen insensitivity, OMIM:300068;Androgen insensitivity, partial, with or without breast cancer, OMIM:312300;Hypospadias 1, X-linked, OMIM:300633 False 3 100;0;0 4.20 False ENSG00000169083 ENSG00000169083 HGNC:644 ARX gene ARX Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Differences in sex development Endocrinology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Corpus Callosum, Agenesis Of, With Abnormal Genitalia, Proud syndrome 300004;ARX-related Disorders;Lissencephaly, X-linked 2 300215 False 3 100;0;0 4.20 False ENSG00000004848 ENSG00000004848 HGNC:18060 ATRX gene ATRX Expert Review Green;Literature Differences in sex development Endocrinology X-LINKED: hemizygous mutation in males, biallelic mutations in females "Mental retardation-hypotonic facies syndrome, X-linked 309580" Gene reviews: https://www.ncbi.nlm.nih.gov/books/NBK1449/ False 3 100;0;0 4.20 True ENSG00000085224 ENSG00000085224 HGNC:886 CDKN1C gene CDKN1C Emory Genetics Laboratory;Expert Review Green;Other;Radboud University Medical Center, Nijmegen;UKGTN Differences in sex development Endocrinology MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) IMAGE syndrome, 614732; Beckwith-Wiedemann syndrome 130650; Disproportionate Short Stature and Wilms Tumor: Sequencing Panels (Emory) False 3 100;0;0 4.20 False ENSG00000129757 ENSG00000129757 HGNC:1786 CHD7 gene CHD7 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;OMIM;Radboud University Medical Center, Nijmegen;UKGTN Differences in sex development Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CHARGE syndrome, 214800 False 3 100;0;0 4.20 False ENSG00000171316 ENSG00000171316 HGNC:20626 CTU2 gene CTU2 Expert list;Expert Review Green;NHS GMS Differences in sex development Endocrinology BIALLELIC, autosomal or pseudoautosomal Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, OMIM:618142 26633546;27480277;31301155 False 3 100;0;0 4.20 False ENSG00000174177 ENSG00000174177 HGNC:28005 CUL4B gene CUL4B Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Differences in sex development Endocrinology X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354;XLMR with Short Stature, Small Testes, Muscle Wasting, and Tremor 24898194 False 3 100;0;0 4.20 False ENSG00000158290 ENSG00000158290 HGNC:2555 CYB5A gene CYB5A Expert Review;Expert Review Green;Other;Radboud University Medical Center, Nijmegen Differences in sex development Endocrinology BIALLELIC, autosomal or pseudoautosomal 46,XY underandrogenization with biochemistry similar to isolated 17,20-lyase deficiency; Methemoglobinemia, type I, 250790 22170710;8168836 False 3 100;0;0 4.20 False ENSG00000166347 ENSG00000166347 HGNC:2570 CYP11A1 gene CYP11A1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Other;Radboud University Medical Center, Nijmegen;UKGTN Differences in sex development Endocrinology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Adrenal 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;12161514;15507506;16705068;18182448;19116240 False 3 100;0;0 4.20 False ENSG00000140459 ENSG00000140459 HGNC:2590 CYP11B1 gene CYP11B1 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen;UKGTN Differences in sex development Endocrinology BIALLELIC, autosomal or pseudoautosomal Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, OMIM:202010;Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN) False 3 100;0;0 4.20 False ENSG00000160882 ENSG00000160882 HGNC:2591 CYP17A1 gene CYP17A1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen;UKGTN Differences in sex development Endocrinology BIALLELIC, autosomal or pseudoautosomal Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN);Endocrine disorders including disorders of sexual development (Emory);congenital adrenal hyperplasia;17,20-lyase deficiency, isolated 202110 and 17-alpha-hydroxylase/17,20-lyase deficiency 202110 False 3 100;0;0 4.20 False ENSG00000148795 ENSG00000148795 HGNC:2593 CYP19A1 gene CYP19A1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen Differences in sex development Endocrinology BIALLELIC, autosomal or pseudoautosomal Aromatase deficiency, OMIM:613546 False 3 100;0;0 4.20 False ENSG00000137869 ENSG00000137869 HGNC:2594 CYP21A2 gene CYP21A2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Differences in sex development Endocrinology BIALLELIC, autosomal or pseudoautosomal Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN);Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency 201910;Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 False 3 100;0;0 4.20 False ENSG00000231852 ENSG00000231852 HGNC:2600 DHCR7 gene DHCR7 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen;UKGTN Differences in sex development Endocrinology BIALLELIC, autosomal or pseudoautosomal Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN); Smith-Lemli-Opitz syndrome, 270400 False 3 100;0;0 4.20 False ENSG00000172893 ENSG00000172893 HGNC:2860 DHH gene DHH Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen;UKGTN Differences in sex development Endocrinology BIALLELIC, autosomal or pseudoautosomal 46XY partial gonadal dysgenesis, with minifascicular neuropathy, 607080; 46XY sex reversal 7, 233420 25927242;23786321;21816240 False 3 100;0;0 4.20 False ENSG00000139549 ENSG00000139549 HGNC:2865 DHX37 gene DHX37 Expert Review Green;Literature Differences in sex development Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 46, XY sex reversal 11, 273250 31287541;31745530;31337883 False 3 100;0;0 4.20 False ENSG00000150990 ENSG00000150990 HGNC:17210 GATA4 gene GATA4 Expert Review;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Differences in sex development Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Testicular anomalies with or without congenital heart disease, OMIM:615542 21220346;31962012 False 3 50;0;50 4.20 False ENSG00000136574 ENSG00000136574 HGNC:4173 HOXA13 gene HOXA13 Expert list;Expert Review Green;NHS GMS Differences in sex development Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hand-foot-uterus syndrome, OMIM:140000 10839976;9020844 False 3 100;0;0 4.20 False ENSG00000106031 ENSG00000106031 HGNC:5102 HSD17B3 gene HSD17B3 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Differences in sex development Endocrinology BIALLELIC, autosomal or pseudoautosomal Gender Assignment Gene Panel (UKGTN); Pseudohermaphroditism, male, with gynecomastia, 264300 False 3 100;0;0 4.20 False ENSG00000130948 ENSG00000130948 HGNC:5212 HSD3B2 gene HSD3B2 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Differences in sex development Endocrinology BIALLELIC, autosomal or pseudoautosomal Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN); Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, 201810 False 3 100;0;0 4.20 False ENSG00000203859 ENSG00000203859 HGNC:5218 LHCGR gene LHCGR Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Differences in sex development Endocrinology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Gender Assignment Gene Panel (UKGTN);Endocrine disorders including disorders of sexual development (Emory);Leydic cell hypoplasia type 1, 238320;Precocious puberty, male, 176410 False 3 100;0;0 4.20 False ENSG00000138039 ENSG00000138039 HGNC:6585 MAMLD1 gene MAMLD1 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Differences in sex development Endocrinology X-LINKED: hemizygous mutation in males, biallelic mutations in females Gender Assignment Gene Panel (UKGTN); Hypospadias 2, X-linked 300758 17086185;26580071;25660412 False 3 100;0;0 4.20 False ENSG00000013619 ENSG00000013619 HGNC:2568 MAP3K1 gene MAP3K1 Expert Review;Expert Review Green;Other;Radboud University Medical Center, Nijmegen Differences in sex development Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "46XY sex reversal 6 613762" False 3 50;0;50 4.20 False ENSG00000095015 ENSG00000095015 HGNC:6848 MYRF gene MYRF Expert Review Green;Literature;NHS GMS Differences in sex development Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiac-urogenital syndrome, OMIM:618280;gonadal hypoplasia;Mullerian duct hypoplasia 30985895;29446546;31069960;30070761;30532227 False 3 67;33;0 4.20 False ENSG00000124920 ENSG00000124920 HGNC:1181 NR0B1 gene NR0B1 Emory Genetics Laboratory;Expert Review Green;Other;Radboud University Medical Center, Nijmegen;UKGTN Differences in sex development Endocrinology X-LINKED: hemizygous mutation in males, biallelic mutations in females "6XY sex reversal 2, dosage-sensitive 300018; Adrenal hypoplasia, congenital 300200" False 3 100;0;0 4.20 False ENSG00000169297 ENSG00000169297 HGNC:7960 NR2F2 gene NR2F2 Expert list;Expert Review Green;NHS GMS Differences in sex development Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 46,XX sex reversal 5, OMIM:618901;46,XX sex reversal 5, MONDO:0030049 29478779;31687637 False 3 100;0;0 4.20 False ENSG00000185551 ENSG00000185551 HGNC:7976 NR3C1 gene NR3C1 Expert list;Expert Review Green;NHS GMS Differences in sex development Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glucocorticoid resistance, OMIM:615962 30158362;31995340 False 3 100;0;0 4.20 False ENSG00000113580 ENSG00000113580 HGNC:7978 NR5A1 gene NR5A1 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Differences in sex development Endocrinology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN);Endocrine disorders including disorders of sexual development (Emory);46XY sex reversal 3, 612965;Premature ovarian failure 7, 612964;Spermatogenic failure 8, 613957 26303087 False 3 100;0;0 4.20 False ENSG00000136931 ENSG00000136931 HGNC:7983 POR gene POR Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Differences in sex development Endocrinology BIALLELIC, autosomal or pseudoautosomal Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN);Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis AR, 201750;Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 15220035;14758361 False 3 100;0;0 4.20 False ENSG00000127948 ENSG00000127948 HGNC:9208 PPP1R12A gene PPP1R12A Expert Review Green;Literature Differences in sex development Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Genitourinary and/or/brain malformation syndrome, 618820 31883643 False 3 100;0;0 4.20 False ENSG00000058272 ENSG00000058272 HGNC:7618 RPL10 gene RPL10 Expert Review Green;Literature Differences in sex development Endocrinology X-LINKED: hemizygous mutation in males, biallelic mutations in females "Mental retardation, X-linked, syndromic, 35 300998" 25316788; 25316788; 25316788 False 3 100;0;0 4.20 False ENSG00000147403 ENSG00000147403 HGNC:10298 RSPO1 gene RSPO1 Expert Review Green;Other;Radboud University Medical Center, Nijmegen;UKGTN Differences in sex development Endocrinology BIALLELIC, autosomal or pseudoautosomal "Palmoplantar hyperkeratosis and true hermaphroditism 610644;Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal 610644" 17041600;18085567;21991325 False 3 100;0;0 4.20 False ENSG00000169218 ENSG00000169218 HGNC:21679 SAMD9 gene SAMD9 Expert Review Green;Literature Differences in sex development Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MIRAGE syndrome 617053 27182967 False 3 100;0;0 4.20 True Other - please provide details in the comments ENSG00000205413 ENSG00000205413 HGNC:1348 SGPL1 gene SGPL1 Expert Review Green;Literature Differences in sex development Endocrinology BIALLELIC, autosomal or pseudoautosomal "Nephrotic syndrome 14 617575" 28181337; 28165339; 28165343 False 3 0;100;0 4.20 False ENSG00000166224 ENSG00000166224 HGNC:10817 SOX10 gene SOX10 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Differences in sex development Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Waardenburg syndrome, type 4C 613266" 2364338 False 3 100;0;0 4.20 False ENSG00000100146 ENSG00000100146 HGNC:11190 SOX9 gene SOX9 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Differences in sex development Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Gender Assignment & Genital Anomalies and Suspected Adrenal Problems Gene Panels (UKGTN);Campomelic dysplasia with autosomal sex reversal, 114290 False 3 100;0;0 4.20 False ENSG00000125398 ENSG00000125398 HGNC:11204 SRD5A2 gene SRD5A2 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other;UKGTN Differences in sex development Endocrinology BIALLELIC, autosomal or pseudoautosomal "Pseudovaginal perineoscrotal hypospadias 264600" False 3 100;0;0 4.20 False ENSG00000049319 ENSG00000277893 HGNC:11285 SRY gene SRY Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Differences in sex development Endocrinology Other - please specifiy in evaluation comments "Testicular dysgenesis/Swyers syndrome;46XX sex reversal 1 400045;46XY sex reversal 1 400044" 1415266;7987333 False 3 100;0;0 4.20 False ENSG00000184895 ENSG00000184895 HGNC:11311 STAR gene STAR Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Differences in sex development Endocrinology BIALLELIC, autosomal or pseudoautosomal Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN); Lipoid adrenal hyperplasia, 201710 False 3 100;0;0 4.20 False ENSG00000147465 ENSG00000147465 HGNC:11359 TOE1 gene TOE1 Expert Review Green;Literature Differences in sex development Endocrinology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 7 614969 28092684 False 3 100;0;0 4.20 True ENSG00000132773 ENSG00000132773 HGNC:15954 TSPYL1 gene TSPYL1 Expert list;Expert Review Green;Other;Radboud University Medical Center, Nijmegen Differences in sex development Endocrinology BIALLELIC, autosomal or pseudoautosomal Sudden infant death with dysgenesis of the testes syndrome OMIM:608800;sudden infant death-dysgenesis of the testes syndrome MONDO:0012124 15273283;22137496;19463995;32885560;33075815 False 3 67;0;33 4.20 False ENSG00000189241 ENSG00000189241 HGNC:12382 WT1 gene WT1 Expert Review;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Differences in sex development Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Denys-Drash syndrome 194080;Frasier syndrome 136680;Meacham syndrome 608978" False 3 100;0;0 4.20 False ENSG00000184937 ENSG00000184937 HGNC:12796 DMRT1 gene DMRT1 Expert Review Amber;UKGTN Differences in sex development Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 46,XY disorders/differences of sex development 11870074;26139570;24934491;39936125 False 2 0;50;50 4.20 False ENSG00000137090 ENSG00000137090 HGNC:2934 ESR2 gene ESR2 Expert list;Expert Review Amber Differences in sex development Endocrinology BOTH monoallelic and biallelic, autosomal or pseudoautosomal 46,XY disorder of sex development, MONDO:0020040;?Ovarian dysgenesis 8, OMIM:618187 29261182;9861029;30113650 False 2 0;100;0 4.20 False ENSG00000140009 ENSG00000140009 HGNC:3468 FGFR2 gene FGFR2 Expert list;Expert Review Amber Differences in sex development Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LADD syndrome, OMIM:149730;Bent bone dysplasia syndrome, OMIM:614592 26362256;18155190;22387015 False 2 100;0;0 4.20 False ENSG00000066468 ENSG00000066468 HGNC:3689 HHAT gene HHAT Expert Review;Expert Review Amber Differences in sex development Endocrinology BIALLELIC, autosomal or pseudoautosomal 46,XY DSD with chondrodysplasia;Nivelon-Nivelon-Mabille syndrome, OMIM:600092 24784881;30912300;33749989 False 2 50;0;50 4.20 False ENSG00000054392 ENSG00000054392 HGNC:18270 PAX8 gene PAX8 Expert Review Amber;Literature Differences in sex development Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mayer-Rokitansky-K ster-Hauser syndrome (MRKHS), MONDO:0017771 33434492;31731040;25484916 False 2 0;100;0 4.20 False ENSG00000125618 ENSG00000125618 HGNC:8622 PBX1 gene PBX1 Expert Review Amber;Literature Differences in sex development Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 46, XY gonadal dysgenesis;46,XY partial gonadal dysgenesis, MONDO:0016674 31302614;31058389 False 2 0;100;0 4.20 False ENSG00000185630 ENSG00000185630 HGNC:8632 PRDM13 gene PRDM13 Expert Review Amber;Literature Differences in sex development Endocrinology BIALLELIC, autosomal or pseudoautosomal congenital hypogonadotropic hypogonadism, MONDO:0015770;Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, OMIM:619761 34730112;35390279 False 2 0;100;0 4.20 False ENSG00000112238 ENSG00000112238 HGNC:13998 TCF12 gene TCF12 Expert Review Amber;Literature Differences in sex development Endocrinology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Kallmann syndrome 32620954 False 2 0;100;0 4.20 False ENSG00000140262 ENSG00000140262 HGNC:11623 ZFPM2 gene ZFPM2 Expert Review;Expert Review Amber;Other Differences in sex development Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 46XY sex reversal 9, OMIM:616067 24549039;21919901;25813279 False 2 33;33;33 4.20 False ENSG00000169946 ENSG00000169946 HGNC:16700 ISCA-37401-Loss region Expert Review Green;ClinGen Differences in sex development Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome;194072 False 3 100;0;0 4.20 False 11 31781961 32489442 3 60 cnv_loss 11p13 (WAGR syndrome) region Loss ISCA-46302-Gain region Expert Review Green;ClinGen Differences in sex development Endocrinology X-LINKED: hemizygous mutation in males, biallelic mutations in females gonadal dysgenesis 22518125;17504899;20685758 False 3 0;100;0 4.20 False X 30176883 30336883 3 60 cnv_gain Xp21.2 region (includes NR0B1) Gain