Table 1: Included genes in the DSD panel.

Gene Name Locus Gene Name Locus
AMH Anti-Mullerian Hormone 19p13.3 INHA Inhibin Alpha Subunit 2q35
AMHR2 Anti-Mullerian Hormone Receptor Type 2 12q13.13 INSL3 Insulin-Like 3 19p13.11
AR Androgen Receptor Xq12 KISS1 KiSS-1 Metastasis-Suppressor 1q32.1
ATRX Mental Retardation, X-Linked Xq21.1 KISS1R KISS1 Receptor 19p13.3
BMP15 Bone Morphogenetic Protein 15 Xp11.22 RXFP2 Relaxin/Insulin Like Family Peptide Receptor 2 13q13.1
CBX2 Chromobox 2 17q25.3 LHCGR Luteinizing Hormone/Choriogonadotropin Receptor 2p16.3
CYP11A1 Cytochrome P450 Family 11 Subfamily A Member 1 15q24.1 MAMLD1 Mastermind Like Domain Containing 1 Xq28
CYP11B1 Cytochrome P450 Family 11 Subfamily B Member 1 8q24.3 MAP3K1 Mitogen-Activated Protein Kinase Kinase Kinase 1 5q11.2
CYP17A1 Cytochrome P450 Family 17 Subfamily A Member 1 10q24.32 NR0B1 Nuclear Receptor Subfamily 0 Group B Member 1 Xp21.2
CYP19A1 Cytochrome P450 Family 19 Subfamily A Member 1 15q21.2 ESR1 Estrogen Receptor 1 6q25.1
CYP21A2 Cytochrome P450 Family 21 Subfamily A Member 2 6p21.33 ESR2 Estrogen Receptor 2 14q23.3
DHH Desert Hedgehog 12q13.12 NR5A1 Nuclear Receptor Subfamily 5 Group A Member 1 9q33.3
DMRT1 Doublesex And Mab-3 Related Transcription Factor 1 9p24.3 POR Cytochrome P450 Oxidoreductase 7q11.23
DMRT2 Doublesex And Mab-3 Related Transcription Factor 2 9p24.3 PSMC3IP Proteasome 26S ATPase Subunit 3-Interacting Protein 17q21.2
FGF9 Fibroblast Growth Factor 9 13q12.11 RSPO1 R-Spondin 1 1p34.3
FOG2 Zinc Finger Protein, FOG Family Member 2 8q22.3 SOX3 SRY-Box 3 Xq27.1
FOXL2 Forkhead Box L2 3q22.3 SOX9 SRY-Box 9 17q24.3
FOXO3 Forkhead Box O3 6q21 SRD5A2 Steroid 5 Alpha-Reductase 2 2p23.1
FSHR Follicle Stimulating Hormone Receptor 2p16.3 SRY Sex Determining Region Y Yp11.2
GATA4 GATA Binding Protein 4 8p23.1 STAR Steroidogenic Acute Regulatory Protein 8p11.23
HARS2 Histidyl-TRNA Synthetase 2, Mitochondrial 5q31.3 TSPYL1 Testis-Specific Y-Encoded-Like Protein 6q22.1
HSD17B3 Hydroxysteroid 17-Beta Dehydrogenase 3 9q22.32 WNT4 Wingless-Type MMTV Integration Site Family, Member 4 1p36.12
HSD17B4 Hydroxysteroid 17-Beta Dehydrogenase 4 5q23.1 WT1 Wilms Tumor 1 11p13
HSD3B2 Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 2 1p12 WWOX WW Domain Containing Oxidoreductase 16q23.1