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
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