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
DMRT1	gene	DMRT1	Expert Review Amber;UKGTN	Differences in sex development		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	46,XY disorders/differences of sex development				11870074;26139570;24934491;39936125		False	2	0;50;50	4.20	False		ENSG00000137090	ENSG00000137090	HGNC:2934													
ESR2	gene	ESR2	Expert list;Expert Review Amber	Differences in sex development		Endocrinology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	46,XY disorder of sex development, MONDO:0020040;?Ovarian dysgenesis 8, OMIM:618187				29261182;9861029;30113650		False	2	0;100;0	4.20	False		ENSG00000140009	ENSG00000140009	HGNC:3468													
FGFR2	gene	FGFR2	Expert list;Expert Review Amber	Differences in sex development		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	LADD syndrome, OMIM:149730;Bent bone dysplasia syndrome, OMIM:614592				26362256;18155190;22387015		False	2	100;0;0	4.20	False		ENSG00000066468	ENSG00000066468	HGNC:3689													
HHAT	gene	HHAT	Expert Review;Expert Review Amber	Differences in sex development		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	46,XY DSD with chondrodysplasia;Nivelon-Nivelon-Mabille syndrome, OMIM:600092				24784881;30912300;33749989		False	2	50;0;50	4.20	False		ENSG00000054392	ENSG00000054392	HGNC:18270													
PAX8	gene	PAX8	Expert Review Amber;Literature	Differences in sex development		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mayer-Rokitansky-K ster-Hauser syndrome (MRKHS), MONDO:0017771				33434492;31731040;25484916		False	2	0;100;0	4.20	False		ENSG00000125618	ENSG00000125618	HGNC:8622													
PBX1	gene	PBX1	Expert Review Amber;Literature	Differences in sex development		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	46, XY gonadal dysgenesis;46,XY partial gonadal dysgenesis, MONDO:0016674				31302614;31058389		False	2	0;100;0	4.20	False		ENSG00000185630	ENSG00000185630	HGNC:8632													
PRDM13	gene	PRDM13	Expert Review Amber;Literature	Differences in sex development		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	congenital hypogonadotropic hypogonadism, MONDO:0015770;Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, OMIM:619761				34730112;35390279		False	2	0;100;0	4.20	False		ENSG00000112238	ENSG00000112238	HGNC:13998													
TCF12	gene	TCF12	Expert Review Amber;Literature	Differences in sex development		Endocrinology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Kallmann syndrome				32620954		False	2	0;100;0	4.20	False		ENSG00000140262	ENSG00000140262	HGNC:11623													
ZFPM2	gene	ZFPM2	Expert Review;Expert Review Amber;Other	Differences in sex development		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	46XY sex reversal 9, OMIM:616067				24549039;21919901;25813279		False	2	33;33;33	4.20	False		ENSG00000169946	ENSG00000169946	HGNC:16700