Differences of Sex Development (Version 2.0)

Description

This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.

This panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.

Panel Activity

22 reviewers

Natasha Brown (Victorian Clinical Genetics Services)
Lauren Akesson (Royal Melbourne Hospital)
Katie Ayers (Murdoch Children's Research Institute)
Elena Tucker (Murdoch Children's Research Institute)
Mark Cleghorn (Royal Melbourne Hospital)
Ain Roesley (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
Teresa Zhao (Victorian Clinical Genetics Services)
Naomi Baker (Victorian Clinical Genetics Services)
Daniel Flanagan (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Seb Lunke (Victorian Clinical Genetics Services)
Lucy Spencer (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Tashunka Taylor-Miller (Victorian Clinical Genetics Services)
Belinda Chong (Victorian Clinical Genetics Services)
Krithika Murali (Pathology Queensland)
Sarah Milton (Victorian Clinical Genetics Services)
Leah Frajman (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services)
chirag patel (Genetic Health Queensland)

146 Entities

146 reviewed, 102 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 146 Entitiess
Green Green List (high evidence)	AMH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Persistent Mullerian duct syndrome, type I (MIM#261550) Tags founder
Green Green List (high evidence)	AMHR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Persistent Mullerian duct syndrome, type II MIM#261550 Tags
Green Green List (high evidence)	ANOS1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700 Tags
Green Green List (high evidence)	AR	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hypospadias 1, X-linked MIM#30063 Androgen insensitivity MIM#300068 Androgen insensitivity, partial, with or without breast cancer MIM#312300 Tags
Green Green List (high evidence)	ARHGAP35	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Hypogonadotropic hypogonadism, MONDO:0015770, ARHGAP35-related Tags
Green Green List (high evidence)	ARX	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations X-linked lissencephaly with abnormal genitalia, MONDO:0010268 Tags
Green Green List (high evidence)	ATRX	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations ATR-X-related syndrome MONDO:0016980 Tags
Green Green List (high evidence)	BMP15	1 review 1 green	Other	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ovarian dysgenesis 2, MIM# 300510 Premature ovarian failure 4, MIM# 300510 Tags
Green Green List (high evidence)	CDKN1C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations IMAGe syndrome, MIM# 614732 Tags
Green Green List (high evidence)	CHD4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Sifrim-Hitz-Weiss syndrome, MIM #617159 Tags
Green Green List (high evidence)	CHD7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism 5 with or without anosmia MIM#612370 CHARGE syndrome MIM#214800 Tags
Green Green List (high evidence)	CPE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326 Tags
Green Green List (high evidence)	CTU2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations DREAM-PL syndrome (Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome), MIM#618142 Tags
Green Green List (high evidence)	CUL4B	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Mental retardation, X-linked, syndromic 15 (Cabezas type) 300354 Tags
Green Green List (high evidence)	CYB5A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Methemoglobinemia and ambiguous genitalia, MIM# 250790 Tags
Green Green List (high evidence)	CYP11A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743 Tags
Green Green List (high evidence)	CYP11B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010 Tags treatable
Green Green List (high evidence)	CYP17A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110 Tags treatable
Green Green List (high evidence)	CYP19A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Aromatase deficiency (MIM#613546), AR Aromatase excess syndrome (MIM#139300), AD Tags SV/CNV
Green Green List (high evidence)	CYP21A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 Tags
Green Green List (high evidence)	DCAF17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Woodhouse-Sakati syndrome, MIM# 241080 Tags
Green Green List (high evidence)	DHCR7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Smith-Lemli-Opitz syndrome, MIM#270400 Tags
Green Green List (high evidence)	DHH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome, MONDO:0011766 Tags
Green Green List (high evidence)	DHX37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations 46,XY sex reversal 11, MONDO:8000015 Tags
Green Green List (high evidence)	DLK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert list Expert Review Green Disease associations central precocious puberty, MONDO:0019165 Tags
Green Green List (high evidence)	EMX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism, MONDO:0015770, EMX2-related 46,XX or XY DSD, EMX2-related Tags
Green Green List (high evidence)	FGF17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	FGF8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism 6 with or without anosmia, MIM# 612702 Tags
Green Green List (high evidence)	FGFR1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Encephalocraniocutaneous lipomatosis, somatic mosaic 613001 Hartsfield syndrome 615465 Hypogonadotropic hypogonadism 2 with or without anosmia 147950 Osteoglophonic dysplasia 166250 Tags
Green Green List (high evidence)	FGFR2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations 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 Tags
Green Green List (high evidence)	FRAS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Fraser syndrome 1, MIM#219000 Tags
Green Green List (high evidence)	FREM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Fraser syndrome 2, MIM#617666 Tags
Green Green List (high evidence)	FSHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism 24 without anosmia, MIM#229070 Tags
Green Green List (high evidence)	FSHR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ovarian dysgenesis 1 MONDO:0024463 Ovarian hyperstimulation syndrome MONDO:0011972 Tags
Green Green List (high evidence)	GNRH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841 Tags
Green Green List (high evidence)	GNRHR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism 7 without anosmia, MIM#146110 Tags
Green Green List (high evidence)	HARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Perrault syndrome 2, MIM# 614926 Tags
Green Green List (high evidence)	HESX1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Pituitary hormone deficiency, combined, 5, MIM# 182230 Tags
Green Green List (high evidence)	HHAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Nivelon-Nivelon-Mabille syndrome, OMIM:600092 Tags
Green Green List (high evidence)	HOXA13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hand-foot-uterus syndrome, MIM# 140000 Tags
Green Green List (high evidence)	HOXA13_HFGS_GCN3 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Hand-foot-uterus syndrome MIM#140000 Tags paediatric-onset
Green Green List (high evidence)	HSD17B3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Pseudohermaphroditism, male, with gynecomastia MIM#264300 Tags
Green Green List (high evidence)	HSD17B4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Perrault syndrome 1, MIM# 233400 Tags
Green Green List (high evidence)	HSD3B2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810 Tags
Green Green List (high evidence)	IGF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Literature Disease associations Silver-Russell syndrome 3 MIM#616489 Tags
Green Green List (high evidence)	IRF6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Popliteal pterygium syndrome 1, OMIM #119500 Tags
Green Green List (high evidence)	Xp21.2 duplication syndrome ISCA-46302-Gain Region	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources ClinGen Expert Review Green Disease associations 46,XY sex reversal 2, MONDO:0010226 Tags
Green Green List (high evidence)	SOX9 upstream enhancer loss ISCA-46303-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Disease associations 46XY sex reversal 10, MIM# 616425 46XX sex reversal 2, MIM# 278850 Pierre-Robin sequence MONDO:0009869, SOX9-related Tags regulatory region
Green Green List (high evidence)	KCNK3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, KCNK3-related developmental delay with sleep apnoea (DDSA) Tags
Green Green List (high evidence)	KISS1R	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism 8 with or without anosmia (MIM#614837) Tags
Green Green List (high evidence)	KLB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Hypogonadotropic hypogonadism MONDO:0018555, KLB-related Tags
Green Green List (high evidence)	LARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Perrault syndrome 4, MIM# 615300 Tags
Green Green List (high evidence)	LEP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Obesity, morbid, due to leptin deficiency (MIM#614962) Tags
Green Green List (high evidence)	LEPR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Obesity, morbid, due to leptin receptor deficiency (MIM#614963) Tags clinical trial treatable
Green Green List (high evidence)	LHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism 23 with or without anosmia (MIM#228300) Tags
Green Green List (high evidence)	LHCGR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations 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) Tags
Green Green List (high evidence)	LHX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Pituitary hormone deficiency, combined, 3 (MIM#221750) Tags treatable
Green Green List (high evidence)	MAMLD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hypospadias 2 (MIM#300758) Tags
Green Green List (high evidence)	MAP3K1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations 46XY sex reversal 6 (MIM#613762) Tags
Green Green List (high evidence)	MKRN3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Literature Disease associations Precocious puberty, central, 2, MIM# 615346 Tags 5'UTR SV/CNV
Green Green List (high evidence)	MYRF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations disorders of sex development Tags
Green Green List (high evidence)	NOS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Hypogonadotropic hypogonadism, MONDO:0018555 Tags
Green Green List (high evidence)	NR2F2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations 46XX sex reversal 5, MIM# 618901 Tags
Green Green List (high evidence)	NR3C1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Glucocorticoid resistance (MIM#615962) Tags
Green Green List (high evidence)	NR5A1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations 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) Tags
Green Green List (high evidence)	PBX1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations 46, XY gonadal dysgenesis congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay MONDO:0060549 Tags
Green Green List (high evidence)	PLXNA3	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Hypogonadotropic hypogonadism Tags
Green Green List (high evidence)	POLR3A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations POLR3A-related disorder MONDO:0700276 Tags
Green Green List (high evidence)	POLR3B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism OMIM #614381 Tags
Green Green List (high evidence)	POR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750 Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571 Tags
Green Green List (high evidence)	PPP1R12A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Genitourinary and/or/brain malformation syndrome MIM#618820 Tags
Green Green List (high evidence)	PPP2R3C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM # 618419 Tags
Green Green List (high evidence)	PROK2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism 4 with or without anosmia (MIM#610628) Tags
Green Green List (high evidence)	PROKR2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200 Tags
Green Green List (high evidence)	PROP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Pituitary hormone deficiency, combined, 2 (MIM#262600) Tags
Green Green List (high evidence)	RNF216	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Cerebellar ataxia-hypogonadism syndrome, MONDO:0008935 Tags
Green Green List (high evidence)	RPL10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Disease associations Mental retardation, X-linked, syndromic, 35 (MIM#300998) Tags
Green Green List (high evidence)	RSPO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644 Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644 Tags
Green Green List (high evidence)	SAMD9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Disease associations MIRAGE syndrome (MIM#617053) Tags
Green Green List (high evidence)	SART3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Neurodevelopmental disorder (MONDO#0700092), SART3-related 46,XY disorder of sex development (MONDO:0020040), SART3-related Tags
Green Green List (high evidence)	SEMA3A	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897 Tags
Green Green List (high evidence)	SEMA3F	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Hypogonadotropic hypogonadism Tags
Green Green List (high evidence)	SGPL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations RENI syndrome (MIM#617575) Tags
Green Green List (high evidence)	SLC20A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related Tags
Green Green List (high evidence)	SOX10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Disease associations Kallman syndrome PCWH syndrome (MIM#609136) Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584) Waardenburg syndrome, type 4C (MIM#613266) Tags
Green Green List (high evidence)	SOX11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866 Tags
Green Green List (high evidence)	SOX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:0008799 Microphthalmia, syndromic 3, MIM# 206900 Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900 Tags
Green Green List (high evidence)	SOX9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations 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 Tags
Green Green List (high evidence)	SOX9 upstream regulatory region gain SOX9 upstream regulatory region gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations 46XX sex reversal 2, MIM#278850 Tags regulatory region
Green Green List (high evidence)	SRD5A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Pseudovaginal perineoscrotal hypospadias, MIM# 264600 Tags
Green Green List (high evidence)	SRY	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations 46XX sex reversal 1, MIM# 400045 46XY sex reversal 1 , MIM#400044 Tags
Green Green List (high evidence)	STAR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Lipoid adrenal hyperplasia (MIM#201710) Tags
Green Green List (high evidence)	TAC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism 10 with or without anosmia (MIM#614839) Tags
Green Green List (high evidence)	TACR3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Hypogonadotropic hypogonadism 11 with or without anosmia, MIM# 614840 Tags
Green Green List (high evidence)	TCF12	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Hypogonadotropic hypogonadism 26 with or without anosmia, MIM# 619718 Kallmann syndrome Tags
Green Green List (high evidence)	TOE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Pontocerebellar hypoplasia, type 7 (MIM#614969) Tags
Green Green List (high evidence)	TSPYL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Sudden infant death with dysgenesis of the testes syndrome (MIM#608800) Tags disputed
Green Green List (high evidence)	TWNK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Perrault syndrome 5, MIM# 616138 Tags
Green Green List (high evidence)	UBR5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with speech delay and behavioral abnormalities, MIM# 621372 Tags
Green Green List (high evidence)	UGGT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Congenital disorder of glycosylation, type IICC, MIM# 621381 Tags
Green Green List (high evidence)	WDR11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism 14 with or without anosmia, MIM#614858 Tags
Green Green List (high evidence)	WT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Wilms tumor, MONDO:0006058 Wilms tumor 1, MONDO:0008679 Wilms tumor, type 1, MIM#194070 Denys-Drash syndrome, MIM#194080 Frasier syndrome, MIM#136680 Tags
Amber Amber List (moderate evidence)	CCDC141	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Disease associations congenital hypogonadotropic hypogonadism, MONDO:0015770, CCDC141-related Tags
Amber Amber List (moderate evidence)	CLPP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Disease associations Perrault syndrome 3, MIM# 614129 Tags
Amber Amber List (moderate evidence)	COG6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Congenital disorder of glycosylation, type IIl, MIM# 614576 Tags
Amber Amber List (moderate evidence)	DMRT1	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Expert Review Green Disease associations 46,XY disorder of sex development, MONDO:0020040 Tags
Amber Amber List (moderate evidence)	ERAL1	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Perrault syndrome 6 617565 Tags
Amber Amber List (moderate evidence)	ESR2	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations 46,XY Disorders of Sex Development Ovarian dysgenesis 8, MIM# 618187 Tags
Amber Amber List (moderate evidence)	FEZF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism 22, with or without anosmia 616030 Tags
Amber Amber List (moderate evidence)	FKBP4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Disease associations complex neurodevelopmental disorder MONDO:0100038 Tags
Amber Amber List (moderate evidence)	GATA4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Testicular anomalies with or without congenital heart disease, MIM# 615542 Tags
Amber Amber List (moderate evidence)	IGSF10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Disorder of sex differentiation, MONDO:0002145, IGSF10-related Tags
Amber Amber List (moderate evidence)	INSL3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Cryptorchidism, MIM# 219050 Tags
Amber Amber List (moderate evidence)	KISS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842 Tags
Amber Amber List (moderate evidence)	NDNF	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Hypogonadotropic hypogonadism 25 with anosmia MIM#618841 Tags
Amber Amber List (moderate evidence)	NR0B1	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations 46XY sex reversal 2, dosage-sensitive, MIM# 300018 Tags SV/CNV
Amber Amber List (moderate evidence)	PAX8	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) Tags
Amber Amber List (moderate evidence)	PCSK1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Obesity with impaired prohormone processing (MIM#600955) Tags
Amber Amber List (moderate evidence)	PLXNA1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Hypogonadotropic hypogonadism MONDO:0018555, PLXNA1-related Tags
Amber Amber List (moderate evidence)	PRDM13	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761 Tags founder
Amber Amber List (moderate evidence)	PTCH1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Disease associations Exstrophy-epispadias complex MONDO:0017919, PTCH1-related Tags
Amber Amber List (moderate evidence)	SOX3	1 review	Other	Sources Expert Review Expert Review Amber Disease associations XX male sex reversal Tags SV/CNV
Amber Amber List (moderate evidence)	SPRY4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Disease associations Hypogonadotropic hypogonadism 17 with or without anosmia, MIM# 615266 Tags disputed
Amber Amber List (moderate evidence)	WNT4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Mullerian aplasia and hyperandrogenism (MIM#158330) Tags
Red Red List (low evidence)	AKR1C2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations 46XY sex reversal 8, MIM# 614279 Tags
Red Red List (low evidence)	AKR1C4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations {46XY sex reversal 8, modifier of}, MIM# 614279 Tags
Red Red List (low evidence)	ATF3	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	AXL	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Disease associations Hypogonadotropic hypogonadism, MONDO:0018555, AXL-related Tags
Red Red List (low evidence)	BMP7	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) Tags
Red Red List (low evidence)	CBX2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations 46XY sex reversal 5, MIM# 613080 Tags
Red Red List (low evidence)	CCDC149	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Cryptorchidism, MONDO:0009047, CCDC149-related Tags
Red Red List (low evidence)	DAAM2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Androgen insensitivity syndrome, MONDO:0019154, DAAM2-related Tags
Red Red List (low evidence)	DHCR24	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Desmosterolosis, MIM# 602398 Tags
Red Red List (low evidence)	DUSP6	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism 19 with or without anosmia - MIM#615269 Tags
Red Red List (low evidence)	FLRT3	2 reviews 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism 21 with anosmia (MIM# 615271) Tags
Red Red List (low evidence)	HS6ST1	1 review 1 red	Other	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880 Tags
Red Red List (low evidence)	IL17RD	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267 Tags disputed
Red Red List (low evidence)	MARS2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Disease associations Perrault syndrome 2, MIM# 614926 Tags
Red Red List (low evidence)	MCM5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Disease associations Meier-Gorlin syndrome 8 (MIM#617564) Tags
Red Red List (low evidence)	MKKS	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 6 (MIM#605231) McKusick-Kaufman syndrome (MIM#236700) Tags
Red Red List (low evidence)	NHLH2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Disease associations Hypogonadotropic hypogonadism 27 without anosmia , MIM# 619755 Tags
Red Red List (low evidence)	NSMF	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Disease associations Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838 Tags
Red Red List (low evidence)	POLR1C	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Leukodystrophy, hypomyelinating, 11, OMIM#616494 Tags
Red Red List (low evidence)	RXFP2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Cryptorchidism Tags
Red Red List (low evidence)	SEMA3E	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Disease associations ?CHARGE syndrome (MIM#214800) Tags
Red Red List (low evidence)	ZFPM2	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations 46XY sex reversal 9 (MIM#616067) Tags refuted

Differences of Sex Development (Version 2.0)

22 reviewers

146 Entities

146 reviewed, 102 green

2 reviews

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

2 reviews

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

2 reviews

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags