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
AKR1C2	gene	AKR1C2	Expert Review Red;Victorian Clinical Genetics Services	Differences of Sex Development		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	46XY sex reversal 8, MIM# 614279			Abnormality of the genital system;HP:0000078	21802064		False	1	0;0;100	1.6	True		ENSG00000151632	ENSG00000151632	HGNC:385													
AKR1C4	gene	AKR1C4	Expert Review Red;Victorian Clinical Genetics Services	Differences of Sex Development		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	{46XY sex reversal 8, modifier of}, MIM# 614279			Abnormality of the genital system;HP:0000078	21802064		False	1	0;0;100	1.6	True		ENSG00000198610	ENSG00000198610	HGNC:387													
ATF3	gene	ATF3	Expert Review Red;Victorian Clinical Genetics Services	Differences of Sex Development		Dysmorphic and congenital abnormality syndromes	Unknown				Abnormality of the genital system;HP:0000078			False	1	0;0;100	1.6	True		ENSG00000162772	ENSG00000162772	HGNC:785													
AXL	gene	AXL	Expert Review;Expert Review Red	Differences of Sex Development		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypogonadotropic hypogonadism, MONDO:0018555, AXL-related			Abnormality of the genital system;HP:0000078	24476074		False	1	0;0;100	1.6	True		ENSG00000167601	ENSG00000167601	HGNC:905													
BMP7	gene	BMP7	Expert Review Red;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	1	0;0;100	1.6	True		ENSG00000101144	ENSG00000101144	HGNC:1074													
CBX2	gene	CBX2	Expert Review Red;Victorian Clinical Genetics Services	Differences of Sex Development		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	46XY sex reversal 5, MIM# 613080			Abnormality of the genital system;HP:0000078	19361780;31719618;23219007		False	1	0;50;50	1.6	True		ENSG00000173894	ENSG00000173894	HGNC:1552													
DHCR24	gene	DHCR24	Expert Review Red;Victorian Clinical Genetics Services	Differences of Sex Development		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Desmosterolosis, MIM# 602398			Abnormality of the genital system;HP:0000078	9450875;11519011		False	1	0;0;100	1.6	True		ENSG00000116133	ENSG00000116133	HGNC:2859													
DUSP6	gene	DUSP6	Expert Review Red;Victorian Clinical Genetics Services	Differences of Sex Development		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypogonadotropic hypogonadism 19 with or without anosmia - MIM#615269			Abnormality of the genital system;HP:0000078	23643382;32389901		False	1	0;0;100	1.6	True		ENSG00000139318	ENSG00000139318	HGNC:3072													
FLRT3	gene	FLRT3	Expert Review Red;Victorian Clinical Genetics Services	Differences of Sex Development		Dysmorphic and congenital abnormality syndromes	Unknown	Hypogonadotropic hypogonadism 21 with anosmia (MIM# 615271)			Abnormality of the genital system;HP:0000078	23643382;31200363		False	1	0;0;100	1.6	True		ENSG00000125848	ENSG00000125848	HGNC:3762													
HS6ST1	gene	HS6ST1	Expert Review Red;Victorian Clinical Genetics Services	Differences of Sex Development		Dysmorphic and congenital abnormality syndromes	Other	{Hypogonadotropic hypogonadism 15 with or without anosmia} 614880			Abnormality of the genital system;HP:0000078	21700882		False	1	0;0;100	1.6	True		ENSG00000136720	ENSG00000136720	HGNC:5201													
MCM5	gene	MCM5	Expert Review;Expert Review Red	Differences of Sex Development		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Meier-Gorlin syndrome 8 (MIM#617564)			Abnormality of the genital system;HP:0000078	28198391		False	1	0;0;100	1.6	True		ENSG00000100297	ENSG00000100297	HGNC:6948													
MKKS	gene	MKKS	Expert Review Red;Victorian Clinical Genetics Services	Differences of Sex Development		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 6 (MIM#605231);McKusick-Kaufman syndrome (MIM#236700)			Abnormality of the genital system;HP:0000078	10973251;26900326;10973238		False	1	0;50;50	1.6	True		ENSG00000125863	ENSG00000125863	HGNC:7108													
NHLH2	gene	NHLH2	Expert Review;Expert Review Red	Differences of Sex Development		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	"Hypogonadotropic hypogonadism 27 without anosmia , MIM#	619755"			Abnormality of the genital system;HP:0000078	35066646		False	1	0;0;100	1.6	True		ENSG00000177551	ENSG00000177551	HGNC:7818													
NSMF	gene	NSMF	Expert list;Expert Review Red	Differences of Sex Development		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Hypogonadotropic hypogonadism 9 with or without anosmia, MIM#	614838"			Abnormality of the genital system;HP:0000078	15362570;17235395;21700882		False	1	0;0;100	1.6	True		ENSG00000165802	ENSG00000165802	HGNC:29843													
POLR1C	gene	POLR1C	Expert Review Red;Literature	Differences of Sex Development		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, hypomyelinating, 11, OMIM#616494			Abnormality of the genital system;HP:0000078	26151409;32042905;33005949;22855961		False	1	0;0;100	1.6	True		ENSG00000171453	ENSG00000171453	HGNC:20194													
RXFP2	gene	RXFP2	Expert Review Red;Victorian Clinical Genetics Services	Differences of Sex Development		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Cryptorchidism			Abnormality of the genital system;HP:0000078	31167797;20963592		False	1	50;0;50	1.6	True		ENSG00000133105	ENSG00000133105	HGNC:17318													
SEMA3E	gene	SEMA3E	Expert Review;Expert Review Red	Differences of Sex Development		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	?CHARGE syndrome (MIM#214800)			Abnormality of the genital system;HP:0000078	25985275		False	1	0;0;100	1.6	True		ENSG00000170381	ENSG00000170381	HGNC:10727													
ZFPM2	gene	ZFPM2	Expert Review Red;Victorian Clinical Genetics Services	Differences of Sex Development		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	46XY sex reversal 9 (MIM#616067)			Abnormality of the genital system;HP:0000078	24549039;27899157;31962012;12223418		False	1	0;50;50	1.6	True		ENSG00000169946	ENSG00000169946	HGNC:16700