Dept. of Molecular Medicine (MOMA), Aarhus University Hospital, Denmark Disorders of Sex Development (DSD) v1, 2021-03-22, 86 genes Approved symbol Approved Name HGNC ID Location AKR1C2 aldo-keto reductase family 1 member C2 HGNC:385 10p15.1 AKR1C4 aldo-keto reductase family 1 member C4 HGNC:387 10p15.1 AMH anti-Mullerian hormone HGNC:464 19p13.3 AMHR2 anti-Mullerian hormone receptor type 2 HGNC:465 12q13.13 AR androgen receptor HGNC:644 Xq12 AKR1B1 aldo-keto reductase family 1 member B HGNC:381 7q33 ARX aristaless related homeobox HGNC:18060 Xp21.3 ATF3 activating transcription factor 3 HGNC:785 1q32.3 ATP6V0A4 ATPase H+ transporting V0 subunit a4 HGNC:866 7q34 ATRX ATRX chromatin remodeler HGNC:886 Xq21.1 BMP15 bone morphogenetic protein 15 HGNC:1068 Xp11.22 CBX2 chromobox 2 HGNC:1552 17q25.3 CDKN1C cyclin dependent kinase inhibitor 1C HGNC:1786 11p15.4 CHD7 chromodomain helicase DNA binding protein 7 HGNC:20626 8q12.2 CUL4B cullin 4B HGNC:2555 Xq24 CYB5A cytochrome b5 type A HGNC:2570 18q22.3 CYP11A1 cytochrome P450 family 11 subfamily A member 1 HGNC:2590 15q24.1 CYP11B1 cytochrome P450 family 11 subfamily B member 1 HGNC:2591 8q24.3 CYP17A1 cytochrome P450 family 17 subfamily A member 1 HGNC:2593 10q24.32 CYP19A1 cytochrome P450 family 19 subfamily A member 1 HGNC:2594 15q21.2 CYP21A2 cytochrome P450 family 21 subfamily A member 2 HGNC:2600 6p21.33 DGKQ diacylglycerol kinase theta HGNC:2856 4p16.3 DHCR7 7-dehydrocholesterol reductase HGNC:2860 11q13.4 DHH desert hedgehog signaling molecule HGNC:2865 12q13.12 DHX37 DEAH-box helicase 37 HGNC:17210 12q24.31 DMRT1 doublesex and mab-3 related transcription factor 1 HGNC:2934 9p24.3 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 HGNC:2962 11q22.3 EMX2 empty spiracles homeobox 2 HGNC:3341 10q26.11 ERAL1 Era like 12S mitochondrial rRNA chaperone 1 HGNC:3424 17q11.2 ESR1 estrogen receptor 1 HGNC:3467 6q25.1-q25.2 ESR2 estrogen receptor 2 HGNC:3468 14q23.2-q23.3 FGF9 fibroblast growth factor 9 HGNC:3687 13q12.11 FGFR2 fibroblast growth factor receptor 2 HGNC:3689 10q26.13 FOXL2 forkhead box L2 HGNC:1092 3q22.3 GATA4 GATA binding protein 4 HGNC:4173 8p23.1 GLI2 GLI family zinc finger 2 HGNC:4318 2q14.2 HHAT hedgehog acyltransferase HGNC:18270 1q32.2 HOXA13 homeobox A13 HGNC:5102 7p15.2 Page 1 of 3 Dept. of Molecular Medicine (MOMA), Aarhus University Hospital, Denmark Disorders of Sex Development (DSD) v1, 2021-03-22, 86 genes HSD17B2 hydroxysteroid 17-beta dehydrogenase 2 HGNC:5211 16q23.3 HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 HGNC:5212 9q22.32 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 HGNC:5218 1p12 INPP5E inositol polyphosphate-5-phosphatase E HGNC:21474 9q34.3 PMPCA peptidase, mitochondrial processing subunit alpha HGNC:18667 9q34.3 INSL3 insulin like 3 HGNC:6086 19p13.11 LHB luteinizing hormone subunit beta HGNC:6584 19q13.33 LHCGR luteinizing hormone/choriogonadotropin receptor HGNC:6585 2p16.3 MAMLD1 mastermind like domain containing 1 HGNC:2568 Xq28 MAP3K1 mitogen-activated protein kinase kinase kinase 1 HGNC:6848 5q11.2 MCM5 minichromosome maintenance complex component 5 HGNC:6948 22q12.3 MYRF myelin regulatory factor HGNC:1181 11q12.2 NEK1 NIMA related kinase 1 HGNC:7744 4q33 NR0B1 nuclear receptor subfamily 0 group B member 1 HGNC:7960 Xp21.2 NR2F2 nuclear receptor subfamily 2 group F member 2 HGNC:7976 15q26.2 NR3C1 nuclear receptor subfamily 3 group C member 1 HGNC:7978 5q31.3 NR5A1 nuclear receptor subfamily 5 group A member 1 HGNC:7983 9q33.3 NUP107 nucleoporin 107 HGNC:29914 12q15 PAX6 paired box 6 HGNC:8620 11p13 PAX8 paired box 8 HGNC:8622 2q14.1 PBX1 PBX homeobox 1 HGNC:8632 1q23.3 POR cytochrome p450 oxidoreductase HGNC:9208 7q11.23 PORCN porcupine O-acyltransferase HGNC:17652 Xp11.23 PPP1R12A protein phosphatase 1 regulatory subunit 12A HGNC:7618 12q21.2-q21.31 RPL10 ribosomal protein L10 HGNC:10298 Xq28 RPL15 ribosomal protein L15 HGNC:10306 3p24.2 RSPO1 R-spondin 1 HGNC:21679 1p34.3 RXFP2 relaxin family peptide receptor 2 HGNC:17318 13q13.1 SAMD9 sterile alpha motif domain containing 9 HGNC:1348 7q21.2 SEMA3E semaphorin 3E HGNC:10727 7q21.11 SGPL1 sphingosine-1-phosphate lyase 1 HGNC:10817 10q22.1 SOX10 SRY-box transcription factor 10 HGNC:11190 22q13.1 SOX3 SRY-box transcription factor 3 HGNC:11199 Xq27.1 SOX9 SRY-box transcription factor 9 HGNC:11204 17q24.3 SRD5A2 steroid 5 alpha-reductase 2 HGNC:11285 2p23.1 SRY sex determining region Y HGNC:11311 Yp11.2 STAR steroidogenic acute regulatory protein HGNC:11359 8p11.23 GUCY2C guanylate cyclase 2C HGNC:4688 12p12.3 TAF4B TATA-box binding protein associated factor 4b HGNC:11538 18q11.2 Page 2 of 3 Dept. of Molecular Medicine (MOMA), Aarhus University Hospital, Denmark Disorders of Sex Development (DSD) v1, 2021-03-22, 86 genes PAPPA-AS1 PAPPA antisense RNA 1 HGNC:35152 9q33.2 TCF12 transcription factor 12 HGNC:11623 15q21.3 TOE1 target of EGR1, exonuclease HGNC:15954 1p34.1 TSPYL1 TSPY like 1 HGNC:12382 6q22.1 TWIST2 twist family bHLH transcription factor 2 HGNC:20670 2q37.3 WNT4 Wnt family member 4 HGNC:12783 1p36.12 WT1 WT1 transcription factor HGNC:12796 11p13 ZFPM2 zinc finger protein, FOG family member 2 HGNC:16700 8q23 ZNRF3 zinc and ring finger 3 HGNC:18126 22q12.1 Page 3 of 3.