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
GLI2	gene	GLI2	Expert Review Red;NHS GMS;South West GLH;Wessex and West Midlands GLH	Hypogonadotropic hypogonadism (GMS)		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Culler-Jones syndrome (OMIM 615849)						False	1	0;0;100	5.1	False		ENSG00000074047	ENSG00000074047	HGNC:4318													
HAMP	gene	HAMP	Expert Review Red;NHS GMS;South West GLH;Wessex and West Midlands GLH	Hypogonadotropic hypogonadism (GMS)		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Haemochromatosis type 2B (OMIM 613313)						False	1	0;0;100	5.1	False		ENSG00000105697	ENSG00000105697	HGNC:15598													
HFE	gene	HFE	Expert Review Red;NHS GMS;South West GLH;Wessex and West Midlands GLH	Hypogonadotropic hypogonadism (GMS)		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Haemochromatosis type 1 (OMIM 235200)						False	1	0;0;100	5.1	False		ENSG00000010704	ENSG00000010704	HGNC:4886													
LHX4	gene	LHX4	Expert Review Red;NHS GMS;South West GLH;Wessex and West Midlands GLH	Hypogonadotropic hypogonadism (GMS)		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Combined Pituitary Hormone deficiency (OMIM 262700)						False	1	0;0;100	5.1	False		ENSG00000121454	ENSG00000121454	HGNC:21734													
NR0B1	gene	NR0B1	Expert Review Red;NHS GMS;South West GLH;Wessex and West Midlands GLH	Hypogonadotropic hypogonadism (GMS)		Endocrinology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	46XY sex reversal type 2 (OMIM 300018)						False	1	0;0;100	5.1	False		ENSG00000169297	ENSG00000169297	HGNC:7960													
NSMF	gene	NSMF	Expert Review Red;NHS GMS;South West GLH;Wessex and West Midlands GLH	Hypogonadotropic hypogonadism (GMS)		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypogonadotropic hypogonadism 9 with or without anosmia, OMIM:614838				15362570;17235395;21700882;27803842		False	1	25;0;75	5.1	False		ENSG00000165802	ENSG00000165802	HGNC:29843													
SLC40A1	gene	SLC40A1	Expert Review Red;NHS GMS;South West GLH;Wessex and West Midlands GLH	Hypogonadotropic hypogonadism (GMS)		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Haemochromatosis type 4 (OMIM 606069)						False	1	0;0;100	5.1	False		ENSG00000138449	ENSG00000138449	HGNC:10909													
SOX3	gene	SOX3	Expert Review Red;NHS GMS;Wessex and West Midlands GLH	Hypogonadotropic hypogonadism (GMS)		Endocrinology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Panhypopituitarism, X-linked, OMIM:312000;Panhypopituitarism, X-linked, MONDO:0010712						False	1	0;0;100	5.1	False		ENSG00000134595	ENSG00000134595	HGNC:11199													
TFR2	gene	TFR2	Expert Review Red;NHS GMS;South West GLH;Wessex and West Midlands GLH	Hypogonadotropic hypogonadism (GMS)		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Haemochromatosis type 3 (OMIM 604250)						False	1	0;0;100	5.1	False		ENSG00000106327	ENSG00000106327	HGNC:11762