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 list;Expert Review Red;Other;Radboud University Medical Center, Nijmegen	Differences in sex development		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	46XY sex reversal 8 614279						False	1	0;0;100	4.17	False		ENSG00000151632	ENSG00000151632	HGNC:385													
ATP6V0A4	gene	ATP6V0A4	Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN	Differences in sex development		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN);Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722						False	1	0;0;100	4.17	False		ENSG00000105929	ENSG00000105929	HGNC:866													
CBX2	gene	CBX2	Expert Review Red;Other;Radboud University Medical Center, Nijmegen;UKGTN	Differences in sex development		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Gender Assignment Gene Panel (UKGTN); 46XY sex reversal 5, 613080				23219007;19361780		False	1	0;0;100	4.17	False		ENSG00000173894	ENSG00000173894	HGNC:1552													
DGKQ	gene	DGKQ	Expert Review Red;UKGTN	Differences in sex development		Endocrinology	Unknown							False	1	0;0;100	4.17	False		ENSG00000145214	ENSG00000145214	HGNC:2856													
ERAL1	gene	ERAL1	Literature	Differences in sex development		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	"Perrault syndrome 6	617565"				28449065 		False	1	0;0;100	4.17	False		ENSG00000132591	ENSG00000132591	HGNC:3424													
FGFR1	gene	FGFR1	Expert Review Red;Literature;Research	Differences in sex development		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950;Hartsfield syndrome, OMIM:615465				23154428;23812909;25394172;27055092;32853167;34589657;41108094		False	1	50;0;50	4.17	False		ENSG00000077782	ENSG00000077782	HGNC:3688													
GLI2	gene	GLI2	Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Differences in sex development		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Culler-Jones syndrome, 615849;Holoprosencephaly-9, 610829						False	1	0;0;0	4.17	False		ENSG00000074047	ENSG00000074047	HGNC:4318													
HSD17B2	gene	HSD17B2	Expert Review Red;UKGTN	Differences in sex development		Endocrinology	Unknown	Gender Assignment Gene Panel (UKGTN)						False	1	0;0;100	4.17	False		ENSG00000086696	ENSG00000086696	HGNC:5211													
INPP5E	gene	INPP5E	Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN	Differences in sex development		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156				19668215		False	1	0;0;0	4.17	False		ENSG00000148384	ENSG00000148384	HGNC:21474													
MCM5	gene	MCM5	Literature	Differences in sex development		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	"?Meier-Gorlin syndrome 8	617564"				28198391		False	1	0;0;100	4.17	False		ENSG00000100297	ENSG00000100297	HGNC:6948													
PAX6	gene	PAX6	Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;UKGTN	Differences in sex development		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Not relevant to this panel						False	1	0;0;0	4.17	False		ENSG00000007372	ENSG00000007372	HGNC:8620													
SEMA3E	gene	SEMA3E	Expert list;Radboud University Medical Center, Nijmegen	Differences in sex development		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"CHARGE syndrome	214800"				15235037		False	1	0;0;0	4.17	False		ENSG00000170381	ENSG00000170381	HGNC:10727													
TAF4B	gene	TAF4B	Expert Review Red;Other	Differences in sex development		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Spermatogenic failure 13 615841				24431330		False	1	0;0;100	4.17	False		ENSG00000141384	ENSG00000141384	HGNC:11538													
TWIST2	gene	TWIST2	Radboud University Medical Center, Nijmegen	Differences in sex development		Endocrinology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	"Barber-Say syndrome 209885;Focal facial dermal dysplasia 3, Setleis type	227260"				26119818		False	1	0;0;0	4.17	False		ENSG00000233608	ENSG00000233608	HGNC:20670													
WNT2B	gene	WNT2B	Literature	Differences in sex development		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Diarrhoea 9, OMIM:618168;46,XX testicular disorder of sex development, MONDO:0100249				29909964;33526876		False	1	0;0;100	4.17	False		ENSG00000134245	ENSG00000134245	HGNC:12781