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;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Persistent Mullerian duct syndrome, type I (MIM#261550) Abnormality of the genital system;HP:0000078 32172781 False 3 100;0;0 1.6 True ENSG00000104899 ENSG00000104899 HGNC:464 AMHR2 gene AMHR2 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Persistent Mullerian duct syndrome, type II MIM#261550 Abnormality of the genital system;HP:0000078 34810374 False 3 100;0;0 1.6 True ENSG00000135409 ENSG00000135409 HGNC:465 ANOS1 gene ANOS1 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700 Abnormality of the genital system;HP:0000078 1594017;8504298;8989261 False 3 100;0;0 1.6 True ENSG00000011201 ENSG00000011201 HGNC:6211 AR gene AR Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypospadias 1, X-linked MIM#30063;Androgen insensitivity MIM#300068;Androgen insensitivity, partial, with or without breast cancer MIM#312300 Abnormality of the genital system;HP:0000078 22334387 False 3 100;0;0 1.6 True ENSG00000169083 ENSG00000169083 HGNC:644 ARHGAP35 gene ARHGAP35 Expert Review Green;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism, MONDO:0015770, ARHGAP35-related Abnormality of the genital system;HP:0000078 PMID: 36178483 False 3 100;0;0 1.6 True ENSG00000160007 ENSG00000160007 HGNC:4591 ARX gene ARX Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) X-linked lissencephaly with abnormal genitalia, MONDO:0010268 Abnormality of the genital system;HP:0000078 14722918 False 3 100;0;0 1.6 True ENSG00000004848 ENSG00000004848 HGNC:18060 ATRX gene ATRX Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) ATR-X-related syndrome MONDO:0016980 Abnormality of the genital system;HP:0000078 False 3 100;0;0 1.6 True ENSG00000085224 ENSG00000085224 HGNC:886 BMP15 gene BMP15 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes Other Ovarian dysgenesis 2, MIM# 300510;Premature ovarian failure 4, MIM# 300510 Abnormality of the genital system;HP:0000078 15136966;16508750;16464940 False 3 100;0;0 1.6 True ENSG00000130385 ENSG00000130385 HGNC:1068 CDKN1C gene CDKN1C Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) IMAGe syndrome, MIM# 614732 Abnormality of the genital system;HP:0000078 22634751;33076988;31976094;31497289 False 3 100;0;0 1.6 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 CHD4 gene CHD4 Expert Review Green;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sifrim-Hitz-Weiss syndrome, MIM #617159 Abnormality of the genital system;HP:0000078 31388190;32881470 False 3 100;0;0 1.6 True ENSG00000111642 ENSG00000111642 HGNC:1919 CHD7 gene CHD7 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 5 with or without anosmia MIM#612370;CHARGE syndrome MIM#214800 Abnormality of the genital system;HP:0000078 26411921 False 3 100;0;0 1.6 True ENSG00000171316 ENSG00000171316 HGNC:20626 CPE gene CPE Expert Review Green;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326 Abnormality of the genital system;HP:0000078 26120850;32936766;34383079 False 3 100;0;0 1.6 True ENSG00000109472 ENSG00000109472 HGNC:2303 CTU2 gene CTU2 Expert Review Green;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal DREAM-PL syndrome (Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome), MIM#618142 Abnormality of the genital system;HP:0000078 27480277;26633546;31301155;38348206 False 3 100;0;0 1.6 True ENSG00000174177 ENSG00000174177 HGNC:28005 CUL4B gene CUL4B Expert list;Expert Review Green Differences of Sex Development Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females "Mental retardation, X-linked, syndromic 15 (Cabezas type) 300354" Abnormality of the genital system;HP:0000078 PMID: 25385192 False 3 100;0;0 1.6 True ENSG00000158290 ENSG00000158290 HGNC:2555 CYB5A gene CYB5A Expert list;Expert Review Green Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Methemoglobinemia and ambiguous genitalia, MIM# 250790" Abnormality of the genital system;HP:0000078 PMID: 22170710;32051920 False 3 100;0;0 1.6 True ENSG00000166347 ENSG00000166347 HGNC:2570 CYP11A1 gene CYP11A1 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743 Abnormality of the genital system;HP:0000078 12161514;16705068;18182448;28425981 False 3 100;0;0 1.6 True ENSG00000140459 ENSG00000140459 HGNC:2590 CYP11B1 gene CYP11B1 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010 Abnormality of the genital system;HP:0000078 8768848 False 3 100;0;0 1.6 True ENSG00000160882 ENSG00000160882 HGNC:2591 CYP17A1 gene CYP17A1 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110 Abnormality of the genital system;HP:0000078 2843762;14671162;2026124 False 3 100;0;0 1.6 True ENSG00000148795 ENSG00000148795 HGNC:2593 CYP19A1 gene CYP19A1 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aromatase deficiency (MIM#613546), AR;Aromatase excess syndrome (MIM#139300), AD Abnormality of the genital system;HP:0000078 17164303;25264451 False 3 100;0;0 1.6 True ENSG00000137869 ENSG00000137869 HGNC:2594 CYP21A2 gene CYP21A2 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 Abnormality of the genital system;HP:0000078 False 3 100;0;0 1.6 True ENSG00000231852 ENSG00000231852 HGNC:2600 DAAM2 gene DAAM2 Expert Review Green;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Androgen insensitivity syndrome, MONDO:0019154, DAAM2-related Abnormality of the genital system;HP:0000078 36972684 False 3 100;0;0 1.6 True ENSG00000146122 ENSG00000146122 HGNC:18143 DCAF17 gene DCAF17 Expert Review;Expert Review Green Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Woodhouse-Sakati syndrome, MIM# 241080" Abnormality of the genital system;HP:0000078 19026396;20507343;35002959;34877714;34732557;34590781 False 3 100;0;0 1.6 True ENSG00000115827 ENSG00000115827 HGNC:25784 DHCR7 gene DHCR7 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome, MIM#270400 Abnormality of the genital system;HP:0000078 False 3 100;0;0 1.6 True ENSG00000172893 ENSG00000172893 HGNC:2860 DHH gene DHH Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM# 607080" Abnormality of the genital system;HP:0000078 31018998;29471294;11017805 False 3 100;0;0 1.6 True ENSG00000139549 ENSG00000139549 HGNC:2865 DHX37 gene DHX37 Expert Review Green;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 46,XY gonadal dysgenesis;testicular regression syndrome (TRS) Abnormality of the genital system;HP:0000078 31337883;31745530 False 3 100;0;0 1.6 True ENSG00000150990 ENSG00000150990 HGNC:17210 DLK1 gene DLK1 Expert Review Green;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) central precocious puberty Abnormality of the genital system;HP:0000078 28324015;30462238 False 3 100;0;0 1.6 True ENSG00000185559 ENSG00000185559 HGNC:2907 FGF17 gene FGF17 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Abnormality of the genital system;HP:0000078 23643382;31748124 False 3 100;0;0 1.6 True ENSG00000158815 ENSG00000158815 HGNC:3673 FGF8 gene FGF8 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 6 with or without anosmia, MIM# 612702 Abnormality of the genital system;HP:0000078 20463092;18596921;24280688;31748124 False 3 100;0;0 1.6 True ENSG00000107831 ENSG00000107831 HGNC:3686 FGFR1 gene FGFR1 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Encephalocraniocutaneous lipomatosis, somatic mosaic 613001;Hartsfield syndrome 615465;Hypogonadotropic hypogonadism 2 with or without anosmia 147950;Osteoglophonic dysplasia 166250 Abnormality of the genital system;HP:0000078 18034870;23812909;26942290 False 3 100;0;0 1.6 True ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR2 gene FGFR2 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,MIM# 207410, Apert syndrome, MIM# 101200, Beare-Stevenson cutis gyrata syndrome, MIM# 123790, Bent bone dysplasia syndrome, MIM# 614592 Abnormality of the genital system;HP:0000078 29848297;32879300 False 3 100;0;0 1.6 True ENSG00000066468 ENSG00000066468 HGNC:3689 FRAS1 gene FRAS1 Expert Review Green;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fraser syndrome 1, MIM#219000 Abnormality of the genital system;HP:0000078 12766769;18671281;18000968 False 3 100;0;0 1.6 True ENSG00000138759 ENSG00000138759 HGNC:19185 FREM2 gene FREM2 Expert Review Green;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fraser syndrome 2, MIM#617666 Abnormality of the genital system;HP:0000078 PMID: 15838507;29688405;18203166;18671281;18000968 False 3 100;0;0 1.6 True ENSG00000150893 ENSG00000150893 HGNC:25396 FSHB gene FSHB Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 24 without anosmia, MIM#229070 Abnormality of the genital system;HP:0000078 8220432;9280841;9624193;9806482;9271483;16630814 False 3 100;0;0 1.6 True ENSG00000131808 ENSG00000131808 HGNC:3964 FSHR gene FSHR Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ovarian dysgenesis 1 MONDO:0024463;Ovarian hyperstimulation syndrome MONDO:0011972 Abnormality of the genital system;HP:0000078 16630814;7553856;9020851;9769327;20087398;9854118;12930928;12930927;17721928;26911863 False 3 100;0;0 1.6 True ENSG00000170820 ENSG00000170820 HGNC:3969 GNRH1 gene GNRH1 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841 Abnormality of the genital system;HP:0000078 19535795;19567835;32134721;31200363;26595427 False 3 100;0;0 1.6 True ENSG00000147437 ENSG00000147437 HGNC:4419 GNRHR gene GNRHR Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 7 without anosmia, MIM#146110 Abnormality of the genital system;HP:0000078 28348023;9371856 False 3 100;0;0 1.6 True ENSG00000109163 ENSG00000109163 HGNC:4421 HARS2 gene HARS2 Expert Review Green;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 2, MIM# 614926 Abnormality of the genital system;HP:0000078 PMID: 27650058;21464306;27087618 False 3 100;0;0 1.6 True ENSG00000112855 ENSG00000112855 HGNC:4817 HESX1 gene HESX1 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 5, MIM# 182230 Abnormality of the genital system;HP:0000078 False 3 100;0;0 1.6 True ENSG00000163666 ENSG00000163666 HGNC:4877 HHAT gene HHAT Expert list;Expert Review Green Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Nivelon-Nivelon-Mabille syndrome, OMIM:600092 Abnormality of the genital system;HP:0000078 PMID: 24784881;33749989;35045414 False 3 100;0;0 1.6 True ENSG00000054392 ENSG00000054392 HGNC:18270 HOXA13 gene HOXA13 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hand-foot-uterus syndrome, MIM# 140000 Abnormality of the genital system;HP:0000078 10839976;9020844 False 3 100;0;0 1.6 True ENSG00000106031 ENSG00000106031 HGNC:5102 HSD17B3 gene HSD17B3 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Pseudohermaphroditism, male, with gynecomastia MIM#264300 Abnormality of the genital system;HP:0000078 8550739;11158067 False 3 100;0;0 1.6 True ENSG00000130948 ENSG00000130948 HGNC:5212 HSD17B4 gene HSD17B4 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 1, MIM# 233400 Abnormality of the genital system;HP:0000078 24553428;23181892 False 3 100;0;0 1.6 True ENSG00000133835 ENSG00000133835 HGNC:5213 HSD3B2 gene HSD3B2 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810 Abnormality of the genital system;HP:0000078 1363812;18252794 False 3 100;0;0 1.6 True ENSG00000203859 ENSG00000203859 HGNC:5218 IGF2 gene IGF2 Expert Review Green;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Silver-Russell syndrome 3 MIM#616489 Abnormality of the genital system;HP:0000078 PMID: 31544945 False 3 100;0;0 1.6 True ENSG00000167244 ENSG00000167244 HGNC:5466 IRF6 gene IRF6 Expert Review Green;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Popliteal pterygium syndrome 1, OMIM #119500 Abnormality of the genital system;HP:0000078 PMID: 20301581 False 3 100;0;0 1.6 True ENSG00000117595 ENSG00000117595 HGNC:6121 KCNK3 gene KCNK3 Expert Review Green;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, KCNK3-related;developmental delay with sleep apnoea (DDSA) Abnormality of the genital system;HP:0000078 36195757 False 3 100;0;0 1.6 True ENSG00000171303 ENSG00000171303 HGNC:6278 KISS1R gene KISS1R Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 8 with or without anosmia (MIM#614837) Abnormality of the genital system;HP:0000078 17164310;31073722;14573733 False 3 100;0;0 1.6 True ENSG00000116014 ENSG00000116014 HGNC:4510 KLB gene KLB Expert Review Green;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism Abnormality of the genital system;HP:0000078 28754744 False 3 100;0;0 1.6 True ENSG00000134962 ENSG00000134962 HGNC:15527 LARS2 gene LARS2 Expert Review Green;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 4, MIM# 615300 Abnormality of the genital system;HP:0000078 32423379;29205794;23541342;30737337;26657938 False 3 100;0;0 1.6 True ENSG00000011376 ENSG00000011376 HGNC:17095 LEP gene LEP Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Obesity, morbid, due to leptin deficiency (MIM#614962) Abnormality of the genital system;HP:0000078 26567097;31483094 False 3 100;0;0 1.6 True ENSG00000174697 ENSG00000174697 HGNC:6553 LEPR gene LEPR Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Obesity, morbid, due to leptin receptor deficiency (MIM#614963) Abnormality of the genital system;HP:0000078 17229951;29545012 False 3 100;0;0 1.6 True ENSG00000116678 ENSG00000116678 HGNC:6554 LHB gene LHB Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 23 with or without anosmia (MIM#228300) Abnormality of the genital system;HP:0000078 17761593;28092701;29476300;22723313;15602022 False 3 100;0;0 1.6 True ENSG00000104826 ENSG00000104826 HGNC:6584 LHCGR gene LHCGR Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Luteinizing hormone resistance, female, (MIM#238320);Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320);Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320);Precocious puberty, male, (MIM#176410) Abnormality of the genital system;HP:0000078 11041448 False 3 100;0;0 1.6 True ENSG00000138039 ENSG00000138039 HGNC:6585 LHX3 gene LHX3 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 3 (MIM#221750) Abnormality of the genital system;HP:0000078 28302169;17327381;30262920 False 3 100;0;0 1.6 True ENSG00000107187 ENSG00000107187 HGNC:6595 MAMLD1 gene MAMLD1 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypospadias 2 (MIM#300758) Abnormality of the genital system;HP:0000078 26815876;31555317;32690052 False 3 100;0;0 1.6 True ENSG00000013619 ENSG00000013619 HGNC:2568 MAP3K1 gene MAP3K1 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 46XY sex reversal 6 (MIM#613762) Abnormality of the genital system;HP:0000078 21129722;32986312 False 3 100;0;0 1.6 True ENSG00000095015 ENSG00000095015 HGNC:6848 MARS2 gene MARS2 Expert Review;Expert Review Green Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 2, MIM# 614926 Abnormality of the genital system;HP:0000078 27650058;21464306;27087618 False 3 100;0;0 1.6 True ENSG00000247626 ENSG00000247626 HGNC:25133 MKRN3 gene MKRN3 Expert Review Green;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) "Precocious puberty, central, 2, MIM# 615346" Abnormality of the genital system;HP:0000078 PMID: 31687022;31041429;31636607;32480405 False 3 100;0;0 1.6 True ENSG00000179455 ENSG00000179455 HGNC:7114 MYRF gene MYRF Expert Review Green;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted disorders of sex development Abnormality of the genital system;HP:0000078 PMID: 30985895 False 3 100;0;0 1.6 True ENSG00000124920 ENSG00000124920 HGNC:1181 NR2F2 gene NR2F2 Expert list;Expert Review Green Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 46XX sex reversal 5, MIM# 618901 Abnormality of the genital system;HP:0000078 29478779;31687637 False 3 100;0;0 1.6 True ENSG00000185551 ENSG00000185551 HGNC:7976 NR3C1 gene NR3C1 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glucocorticoid resistance (MIM#615962) Abnormality of the genital system;HP:0000078 30158362 False 3 100;0;0 1.6 True ENSG00000113580 ENSG00000113580 HGNC:7978 NR5A1 gene NR5A1 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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) Abnormality of the genital system;HP:0000078 31513305 False 3 100;0;0 1.6 True ENSG00000136931 ENSG00000136931 HGNC:7983 PBX1 gene PBX1 Expert Review Green;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 46, XY gonadal dysgenesis;congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay MONDO:0060549 Abnormality of the genital system;HP:0000078 35451537;31302614;31058389;32141698 False 3 50;50;0 1.6 True ENSG00000185630 ENSG00000185630 HGNC:8632 PLXNA3 gene PLXNA3 Expert Review Green;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypogonadotropic hypogonadism Abnormality of the genital system;HP:0000078 PMID: 33495532 False 3 0;0;0 1.6 True ENSG00000130827 ENSG00000130827 HGNC:9101 POLR3A gene POLR3A Expert Review Green;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM#607694 Abnormality of the genital system;HP:0000078 21855841;25339210;33005949;22855961 False 3 100;0;0 1.6 True ENSG00000148606 ENSG00000148606 HGNC:30074 POLR3B gene POLR3B Expert Review Green;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism;OMIM #614381 Abnormality of the genital system;HP:0000078 27512013;23355746;22036171;22036172;25339210;33005949;22855961 False 3 100;0;0 1.6 True ENSG00000013503 ENSG00000013503 HGNC:30348 POR gene POR Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750;Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571 Abnormality of the genital system;HP:0000078 27068427 False 3 100;0;0 1.6 True ENSG00000127948 ENSG00000127948 HGNC:9208 PPP1R12A gene PPP1R12A Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;holoprosencephaly;disorder of sex development Abnormality of the genital system;HP:0000078 31883643 False 3 100;0;0 1.6 True ENSG00000058272 ENSG00000058272 HGNC:7618 PPP2R3C gene PPP2R3C Expert Review Green;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM # 618419 Abnormality of the genital system;HP:0000078 30893644;34714774;34750818 False 3 100;0;0 1.6 True ENSG00000092020 ENSG00000092020 HGNC:17485 PROK2 gene PROK2 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 4 with or without anosmia (MIM#610628) Abnormality of the genital system;HP:0000078 18559922;17054399;17959774;18285834 False 3 100;0;0 1.6 True ENSG00000163421 ENSG00000163421 HGNC:18455 PROKR2 gene PROKR2 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200 Abnormality of the genital system;HP:0000078 18826963;29161432 False 3 100;0;0 1.6 True ENSG00000101292 ENSG00000101292 HGNC:15836 PROP1 gene PROP1 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 2 (MIM#262600) Abnormality of the genital system;HP:0000078 15941866;11549703 False 3 100;0;0 1.6 True ENSG00000175325 ENSG00000175325 HGNC:9455 RNF216 gene RNF216 Expert list;Expert Review Green Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Cerebellar ataxia and hypogonadotropic hypogonadism, MIM# 212840" Abnormality of the genital system;HP:0000078 25841028;23656588 False 3 100;0;0 1.6 True ENSG00000011275 ENSG00000011275 HGNC:21698 RPL10 gene RPL10 Expert Review;Expert Review Green Differences of Sex Development Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic, 35 (MIM#300998) Abnormality of the genital system;HP:0000078 25316788;26290468;25846674;29066376 False 3 100;0;0 1.6 True ENSG00000147403 ENSG00000147403 HGNC:10298 RSPO1 gene RSPO1 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644;Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644 Abnormality of the genital system;HP:0000078 17041600;18085567;18250098;18250097 False 3 100;0;0 1.6 True ENSG00000169218 ENSG00000169218 HGNC:21679 SAMD9 gene SAMD9 Expert Review;Expert Review Green Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "MIRAGE syndrome (MIM#617053)" Abnormality of the genital system;HP:0000078 27182967 False 3 100;0;0 1.6 True ENSG00000205413 ENSG00000205413 HGNC:1348 SART3 gene SART3 Expert list;Expert Review Green Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO#0700092), SART3-related;46,XY disorder of sex development (MONDO:0020040), SART3-related Abnormality of the genital system;HP:0000078 PMID: 37296101 False 3 100;0;0 1.6 True ENSG00000075856 ENSG00000075856 HGNC:16860 SEMA3A gene SEMA3A Expert Review;Expert Review Green Differences of Sex Development Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897 Abnormality of the genital system;HP:0000078 28075028;33369061;20301509;21059704;24124006;22927827 False 3 100;0;0 1.6 True ENSG00000075213 ENSG00000075213 HGNC:10723 SEMA3F gene SEMA3F Expert Review Green;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism Abnormality of the genital system;HP:0000078 PMID: 33495532 False 3 100;0;0 1.6 True ENSG00000001617 ENSG00000001617 HGNC:10728 SGPL1 gene SGPL1 Expert Review;Expert Review Green Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal RENI syndrome (MIM#617575) Abnormality of the genital system;HP:0000078 28165339;28165343;28181337 False 3 100;0;0 1.6 True ENSG00000166224 ENSG00000166224 HGNC:10817 SLC20A1 gene SLC20A1 Expert Review Green;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related Abnormality of the genital system;HP:0000078 PMID: 32850778, 27013921 False 3 100;0;0 1.6 True ENSG00000144136 ENSG00000144136 HGNC:10946 SOX10 gene SOX10 Expert Review;Expert Review Green Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Kallman syndrome;PCWH syndrome (MIM#609136);Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584);Waardenburg syndrome, type 4C (MIM#613266) Abnormality of the genital system;HP:0000078 23643381;15004559 False 3 100;0;0 1.6 True Other ENSG00000100146 ENSG00000100146 HGNC:11190 SOX11 gene SOX11 Expert Review;Expert Review Green Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866 Abnormality of the genital system;HP:0000078 29459093;24886874;33086258;33785884;35642566;35341651 False 3 100;0;0 1.6 True ENSG00000176887 ENSG00000176887 HGNC:11191 SOX2 gene SOX2 Expert Review Green;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:0008799;Microphthalmia, syndromic 3, MIM# 206900;Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900 Abnormality of the genital system;HP:0000078 PMID: 20301477 False 3 100;0;0 1.6 True ENSG00000181449 ENSG00000181449 HGNC:11195 SOX9 gene SOX9 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Campomelic dysplasia, MIM# 114290;Campomelic dysplasia, MONDO:0007251;Acampomelic campomelic dysplasia, MIM # 114290, 46XX sex reversal 2, MIM# 278850;46XY sex reversal 10, MIM # 616425 Abnormality of the genital system;HP:0000078 False 3 100;0;0 1.6 True ENSG00000125398 ENSG00000125398 HGNC:11204 SRD5A2 gene SRD5A2 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Pseudovaginal perineoscrotal hypospadias, MIM# 264600 Abnormality of the genital system;HP:0000078 1944596;12843198;35331321;35154247;35135181 False 3 100;0;0 1.6 True ENSG00000049319 ENSG00000277893 HGNC:11285 SRY gene SRY Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 46XX sex reversal 1, MIM# 400045;46XY sex reversal 1 , MIM#400044 Abnormality of the genital system;HP:0000078 9143916;15863672 False 3 100;0;0 1.6 True ENSG00000184895 ENSG00000184895 HGNC:11311 STAR gene STAR Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Lipoid adrenal hyperplasia (MIM#201710) Abnormality of the genital system;HP:0000078 7892608;8634702 False 3 100;0;0 1.6 True ENSG00000147465 ENSG00000147465 HGNC:11359 TAC3 gene TAC3 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 10 with or without anosmia (MIM#614839) Abnormality of the genital system;HP:0000078 19079066;20332248;23329188;22031817 False 3 100;0;0 1.6 True ENSG00000166863 ENSG00000166863 HGNC:11521 TACR3 gene TACR3 Expert list;Expert Review Green Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Hypogonadotropic hypogonadism 11 with or without anosmia, MIM# 614840" Abnormality of the genital system;HP:0000078 20332248;19079066 False 3 100;0;0 1.6 True ENSG00000169836 ENSG00000169836 HGNC:11528 TCF12 gene TCF12 Expert Review Green;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 26 with or without anosmia, MIM# 619718;Kallmann syndrome Abnormality of the genital system;HP:0000078 32620954 False 3 100;0;0 1.6 True ENSG00000140262 ENSG00000140262 HGNC:11623 TOE1 gene TOE1 Expert Review;Expert Review Green Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 7 (MIM#614969) Abnormality of the genital system;HP:0000078 28092684 False 3 100;0;0 1.6 True ENSG00000132773 ENSG00000132773 HGNC:15954 TSPYL1 gene TSPYL1 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Sudden infant death with dysgenesis of the testes syndrome (MIM#608800) Abnormality of the genital system;HP:0000078 15273283;19463995;22137496;25449952;16418600 False 3 50;50;0 1.6 True ENSG00000189241 ENSG00000189241 HGNC:12382 TWNK gene TWNK Expert Review Green;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 5, MIM# 616138 Abnormality of the genital system;HP:0000078 25355836;31852434;31455392 False 3 100;0;0 1.6 True ENSG00000107815 ENSG00000107815 HGNC:1160 UBR5 gene UBR5 Expert Review Green;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, UBR5-related Abnormality of the genital system;HP:0000078 39721588 False 3 100;0;0 1.6 True ENSG00000104517 ENSG00000104517 HGNC:16806 WDR11 gene WDR11 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 14 with or without anosmia, MIM#614858 Abnormality of the genital system;HP:0000078 20887964;29263200 False 3 100;0;0 1.6 True ENSG00000120008 ENSG00000120008 HGNC:13831 WT1 gene WT1 Expert Review Green;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wilms tumor, MONDO:0006058;Wilms tumor 1, MONDO:0008679;Wilms tumor, type 1, MIM#194070;Denys-Drash syndrome, MIM#194080;Frasier syndrome, MIM#136680 Abnormality of the genital system;HP:0000078 False 3 100;0;0 1.6 True ENSG00000184937 ENSG00000184937 HGNC:12796 CCDC141 gene CCDC141 Expert Review;Expert Review Amber Differences of Sex Development Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal congenital hypogonadotropic hypogonadism, MONDO:0015770, CCDC141-related Abnormality of the genital system;HP:0000078 251920460;28324054;32520725;27014940 False 2 0;100;0 1.6 True ENSG00000163492 ENSG00000163492 HGNC:26821 CLPP gene CLPP Expert Review;Expert Review Amber Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 3, MIM# 614129 Abnormality of the genital system;HP:0000078 23541340;25956234;26970254;27087618;27650058;27650058;27899912 False 2 0;100;0 1.6 True ENSG00000125656 ENSG00000125656 HGNC:2084 COG6 gene COG6 Expert Review Amber;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIl, MIM# 614576 Abnormality of the genital system;HP:0000078 33394555;32683677 False 2 0;100;0 1.6 True ENSG00000133103 ENSG00000133103 HGNC:18621 DMRT1 gene DMRT1 Expert list;Expert Review Amber Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 46,XY disorder of sex development, MONDO:0020040 Abnormality of the genital system;HP:0000078 PMID: 31479588;24934491;29527098;26005864;28295047 False 2 0;50;50 1.6 True ENSG00000137090 ENSG00000137090 HGNC:2934 ERAL1 gene ERAL1 Expert list;Expert Review Amber Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Perrault syndrome 6 617565" Abnormality of the genital system;HP:0000078 PMID: 28449065 False 2 0;67;33 1.6 True ENSG00000132591 ENSG00000132591 HGNC:3424 ESR2 gene ESR2 Expert Review Amber;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal 46,XY Disorders of Sex Development;Ovarian dysgenesis 8, MIM# 618187 Abnormality of the genital system;HP:0000078 29261182;9861029;30113650 False 2 0;100;0 1.6 True ENSG00000140009 ENSG00000140009 HGNC:3468 FEZF1 gene FEZF1 Expert Review Amber;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 22, with or without anosmia 616030 Abnormality of the genital system;HP:0000078 25192046;32400067 False 2 0;100;0 1.6 True ENSG00000128610 ENSG00000128610 HGNC:22788 FKBP4 gene FKBP4 Expert Review Amber;Other Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 Abnormality of the genital system;HP:0000078 False 2 0;100;0 1.6 True ENSG00000004478 ENSG00000004478 HGNC:3720 GATA4 gene GATA4 Expert Review Amber;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Testicular anomalies with or without congenital heart disease, MIM# 615542 Abnormality of the genital system;HP:0000078 21220346;30455927;29735817;27899157;26490186;29670578;32992319 False 2 0;100;0 1.6 True ENSG00000136574 ENSG00000136574 HGNC:4173 IGSF10 gene IGSF10 Expert list;Expert Review Amber Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal delayed puberty;hypogonadotropic hypogonadism;primary ovary insufficiency Abnormality of the genital system;HP:0000078 27137492;31042289 False 2 0;100;0 1.6 True ENSG00000152580 ENSG00000152580 HGNC:26384 IL17RD gene IL17RD Expert Review Amber;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267 Abnormality of the genital system;HP:0000078 23643382;32389901 False 2 0;100;0 1.6 True ENSG00000144730 ENSG00000144730 HGNC:17616 INSL3 gene INSL3 Expert Review Amber;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cryptorchidism, MIM# 219050 Abnormality of the genital system;HP:0000078 12601553;12970298;11095425 False 2 0;100;0 1.6 True ENSG00000248099 ENSG00000248099 HGNC:6086 KISS1 gene KISS1 Expert list;Expert Review Amber Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842" Abnormality of the genital system;HP:0000078 22335740;25783047;22766261;17563351 False 2 0;100;0 1.6 True ENSG00000170498 ENSG00000170498 HGNC:6341 NDNF gene NDNF Expert Review Amber;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 25 with anosmia MIM#618841 Abnormality of the genital system;HP:0000078 31883645 False 2 50;50;0 1.6 True ENSG00000173376 ENSG00000173376 HGNC:26256 NR0B1 gene NR0B1 Expert Review Amber;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females 46XY sex reversal 2, dosage-sensitive, MIM# 300018 Abnormality of the genital system;HP:0000078 7951319;28295047 False 2 0;100;0 1.6 True ENSG00000169297 ENSG00000169297 HGNC:7960 PAX8 gene PAX8 Expert Review Amber;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mayer-Rokitansky-K ster-Hauser syndrome (MRKHS) Abnormality of the genital system;HP:0000078 33434492 False 2 0;100;0 1.6 True ENSG00000125618 ENSG00000125618 HGNC:8622 PCSK1 gene PCSK1 Expert Review Amber;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes Unknown Obesity with impaired prohormone processing (MIM#600955) Abnormality of the genital system;HP:0000078 23562752;23800642;17595246;25272002;27187081 False 2 50;50;0 1.6 True ENSG00000175426 ENSG00000175426 HGNC:8743 PRDM13 gene PRDM13 Expert Review Amber;Literature Differences of Sex Development Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761 Abnormality of the genital system;HP:0000078 34730112 False 2 0;100;0 1.6 True ENSG00000112238 ENSG00000112238 HGNC:13998 PTCH1 gene PTCH1 Expert Review Amber;Other Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bladder exstrophy and epispadias complex (BEEC) Abnormality of the genital system;HP:0000078 False 2 0;100;0 1.6 True ENSG00000185920 ENSG00000185920 HGNC:9585 SOX3 gene SOX3 Expert Review;Expert Review Amber Differences of Sex Development Dysmorphic and congenital abnormality syndromes Other XX male sex reversal Abnormality of the genital system;HP:0000078 21183788;22678921;25781358;31523625 False 2 0;100;0 1.6 True Other ENSG00000134595 ENSG00000134595 HGNC:11199 SPRY4 gene SPRY4 Expert list;Expert Review Amber Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Hypogonadotropic hypogonadism 17 with or without anosmia, MIM# 615266" Abnormality of the genital system;HP:0000078 23643382 False 2 0;100;0 1.6 True ENSG00000187678 ENSG00000187678 HGNC:15533 WNT4 gene WNT4 Expert Review Amber;Victorian Clinical Genetics Services Differences of Sex Development Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mullerian aplasia and hyperandrogenism (MIM#158330) Abnormality of the genital system;HP:0000078 22503279;21377155;16959810 False 2 0;100;0 1.6 True ENSG00000162552 ENSG00000162552 HGNC:12783