Differences of Sex Development (Version 1.6)

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

18 reviewers

Natasha Brown (Victorian Clinical Genetics Services)
Lauren Akesson (Royal Melbourne Hospital)
Katie Ayers (Murdoch Children's Research Institute)
Belinda Chong (Victorian Clinical Genetics Services)
Mark Cleghorn (Royal Melbourne Hospital)
Teresa Zhao (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Chirag Patel (Genetic Health Queensland)
Krithika Murali (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Naomi Baker (Victorian Clinical Genetics Services)
Seb Lunke (Victorian Clinical Genetics Services)
Daniel Flanagan (Victorian Clinical Genetics Services)
Tashunka Taylor-Miller (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

137 Entities

137 reviewed, 97 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 137 Entitiess
Green Green List (high evidence)	AMH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes DREAM-PL syndrome (Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome), MIM#618142 Tags
Green Green List (high evidence)	CUL4B	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 Tags
Green Green List (high evidence)	DAAM2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Androgen insensitivity syndrome, MONDO:0019154, DAAM2-related Tags
Green Green List (high evidence)	DCAF17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes 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 Phenotypes Smith-Lemli-Opitz syndrome, MIM#270400 Tags
Green Green List (high evidence)	DHH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM# 607080 Tags
Green Green List (high evidence)	DHX37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes 46,XY gonadal dysgenesis testicular regression syndrome (TRS) Tags
Green Green List (high evidence)	DLK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Literature Phenotypes central precocious puberty 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Hand-foot-uterus syndrome, MIM# 140000 Tags
Green Green List (high evidence)	HSD17B3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Popliteal pterygium syndrome 1, OMIM #119500 Tags
Green Green List (high evidence)	KCNK3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes 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 Phenotypes 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 Phenotypes Hypogonadotropic hypogonadism Tags
Green Green List (high evidence)	LARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 46XY sex reversal 6 (MIM#613762) Tags
Green Green List (high evidence)	MARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Perrault syndrome 2, MIM# 614926 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 Phenotypes 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 Phenotypes disorders of sex development Tags
Green Green List (high evidence)	NR2F2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes 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 Phenotypes Glucocorticoid resistance (MIM#615962) Tags
Green Green List (high evidence)	NR5A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 Phenotypes 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 Phenotypes Hypogonadotropic hypogonadism Tags
Green Green List (high evidence)	POLR3A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM#607694 Tags
Green Green List (high evidence)	POLR3B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Phenotypes 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 Phenotypes Intellectual disability holoprosencephaly disorder of sex development Tags
Green Green List (high evidence)	PPP2R3C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Pituitary hormone deficiency, combined, 2 (MIM#262600) Tags
Green Green List (high evidence)	RNF216	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, MIM# 212840 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Hypogonadotropic hypogonadism Tags
Green Green List (high evidence)	SGPL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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)	SRD5A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Perrault syndrome 5, MIM# 616138 Tags
Green Green List (high evidence)	UBR5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, UBR5-related 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Perrault syndrome 3, MIM# 614129 Tags
Amber Amber List (moderate evidence)	COG6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation, type IIl, MIM# 614576 Tags
Amber Amber List (moderate evidence)	DMRT1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes delayed puberty hypogonadotropic hypogonadism primary ovary insufficiency Tags
Amber Amber List (moderate evidence)	IL17RD	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267 Tags disputed
Amber Amber List (moderate evidence)	INSL3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cryptorchidism, MIM# 219050 Tags
Amber Amber List (moderate evidence)	KISS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842 Tags
Amber Amber List (moderate evidence)	NDNF	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes 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 Phenotypes 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 Phenotypes Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) Tags
Amber Amber List (moderate evidence)	PCSK1	2 reviews 1 green	Unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Obesity with impaired prohormone processing (MIM#600955) Tags
Amber Amber List (moderate evidence)	PRDM13	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761 Tags founder
Amber Amber List (moderate evidence)	PTCH1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes Bladder exstrophy and epispadias complex (BEEC) Tags
Amber Amber List (moderate evidence)	SOX3	1 review	Other	Sources Expert Review Expert Review Amber Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes {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 Phenotypes 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 Phenotypes 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 Phenotypes 46XY sex reversal 5, MIM# 613080 Tags
Red Red List (low evidence)	DHCR24	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Desmosterolosis, MIM# 602398 Tags
Red Red List (low evidence)	DUSP6	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes 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 Phenotypes 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 Phenotypes {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880 Tags
Red Red List (low evidence)	MCM5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Cryptorchidism Tags
Red Red List (low evidence)	SEMA3E	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes ?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 Phenotypes 46XY sex reversal 9 (MIM#616067) Tags refuted

Major version comments

2024-12-08 01:34 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
Fully reviewed and promoted to V1.

Differences of Sex Development (Version 1.6)

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