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
AMH	gene	AMH	Expert Review Amber;Literature	Hypogonadotropic hypogonadism	Pituitary disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypogonadotropic hypogonadism, MONDO:0018555			Hypogonadotropic hypogonadism HP:0000044	31291191		False	2	0;100;0	0.137	True		ENSG00000104899	ENSG00000104899	HGNC:464													
ARNT2	gene	ARNT2	Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp;Literature	Hypogonadotropic hypogonadism	Pituitary disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Webb-Dattani syndrome 615926			Hypogonadotropic hypogonadism HP:0000044	24022475, 11381139		False	2	0;100;0	0.137	False		ENSG00000172379	ENSG00000172379	HGNC:16876													
CCDC141	gene	CCDC141	Expert Review;Expert Review Amber	Hypogonadotropic hypogonadism	Pituitary disorders	Endocrine disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	congenital hypogonadotropic hypogonadism, MONDO:0015770, CCDC141-related			Hypogonadotropic hypogonadism HP:0000044	251920460;28324054;32520725;27014940		False	2	0;100;0	0.137	False		ENSG00000163492	ENSG00000163492	HGNC:26821													
CLPP	gene	CLPP	Expert Review;Expert Review Amber	Hypogonadotropic hypogonadism	Pituitary disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Perrault syndrome 3, MIM# 614129			Hypogonadotropic hypogonadism HP:0000044	23541340;25956234;26970254;27087618;27650058;27650058;27899912		False	2	0;100;0	0.137	False		ENSG00000125656	ENSG00000125656	HGNC:2084													
ESRP2	gene	ESRP2	Expert list;Expert Review Amber	Hypogonadotropic hypogonadism	Pituitary disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cleft palate, MONDO:0016064;Hypopituitarism MONDO:0005152			Hypogonadotropic hypogonadism HP:0000044	29805042		False	2	100;0;0	0.137	False		ENSG00000103067	ENSG00000103067	HGNC:26152													
FEZF1	gene	FEZF1	Expert Review Amber;Victorian Clinical Genetics Services	Hypogonadotropic hypogonadism	Pituitary disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Hypogonadotropic hypogonadism 22, with or without anosmia 616030			Hypogonadotropic hypogonadism HP:0000044	25192046;32400067		False	2	0;100;0	0.137	False		ENSG00000128610	ENSG00000128610	HGNC:22788													
KISS1	gene	KISS1	Expert list;Expert Review Amber	Hypogonadotropic hypogonadism	Pituitary disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	"Hypogonadotropic hypogonadism 13 with or without anosmia, MIM#	614842"			Hypogonadotropic hypogonadism HP:0000044	22335740;25783047;22766261;17563351		False	2	0;100;0	0.137	False		ENSG00000170498	ENSG00000170498	HGNC:6341													
NDNF	gene	NDNF	Expert Review Amber;Literature	Hypogonadotropic hypogonadism	Pituitary disorders	Endocrine disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hypogonadotropic hypogonadism 25 with anosmia MIM#618841			Hypogonadotropic hypogonadism HP:0000044	31883645;40788466;36454653		False	2	0;100;0	0.137	True		ENSG00000173376	ENSG00000173376	HGNC:26256													
NLGN3	gene	NLGN3	Expert Review Amber;Victorian Clinical Genetics Services	Hypogonadotropic hypogonadism	Pituitary disorders	Endocrine disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	X-linked complex neurodevelopmental disorder MONDO:0100148;{Autism susceptibility, X-linked 1} - MIM#300425;Hypogonadotropic hypogonadism MONDO:0018555			Hypogonadotropic hypogonadism HP:0000044	28584888;12669065;25167861		False	2	0;100;0	0.137	True		ENSG00000196338	ENSG00000196338	HGNC:14289													
PLXNA1	gene	PLXNA1	Expert Review Amber;Literature	Hypogonadotropic hypogonadism	Pituitary disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypogonadotropic hypogonadism MONDO:0018555, PLXNA1-related			Hypogonadotropic hypogonadism HP:0000044	28334861;30467832;34636164		False	2	0;100;0	0.137	True		ENSG00000114554	ENSG00000114554	HGNC:9099													
PLXNB1	gene	PLXNB1	Expert Review Amber;Literature	Hypogonadotropic hypogonadism	Pituitary disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypogonadotropic hypogonadism MONDO:0018555			Hypogonadotropic hypogonadism HP:0000044	35170806		False	2	0;100;0	0.137	True		ENSG00000164050	ENSG00000164050	HGNC:9103													
POU6F2	gene	POU6F2	Expert Review Amber;Literature	Hypogonadotropic hypogonadism	Pituitary disorders	Endocrine disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hypogonadotropic hypogonadism, MONDO:0018555			Hypogonadotropic hypogonadism HP:0000044	37600690		False	2	0;100;0	0.137	True		ENSG00000106536	ENSG00000106536	HGNC:21694													
PRDM13	gene	PRDM13	Expert Review Amber;Literature	Hypogonadotropic hypogonadism	Pituitary disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761			Hypogonadotropic hypogonadism HP:0000044	34730112		False	2	0;100;0	0.137	False		ENSG00000112238	ENSG00000112238	HGNC:13998													
RAX	gene	RAX	Expert Review Amber;Literature	Hypogonadotropic hypogonadism	Pituitary disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Microphthalmia, syndromic 16, MIM#611038			Hypogonadotropic hypogonadism HP:0000044	30811539, 40321348		False	2	0;100;0	0.137	False		ENSG00000134438	ENSG00000134438	HGNC:18662													
RBM28	gene	RBM28	Expert Review Amber;Genomics England PanelApp	Hypogonadotropic hypogonadism	Pituitary disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	ANE syndrome;Alopecia, neurologic defects, and endocrinopathy syndrome (612079)			Hypogonadotropic hypogonadism HP:0000044	20231366;18439547;33941690		False	2	0;100;0	0.137	False		ENSG00000106344	ENSG00000106344	HGNC:21863													
SPRY4	gene	SPRY4	Expert list;Expert Review Amber	Hypogonadotropic hypogonadism	Pituitary disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Hypogonadotropic hypogonadism 17 with or without anosmia, MIM#	615266"			Hypogonadotropic hypogonadism HP:0000044	23643382		False	2	0;100;0	0.137	False		ENSG00000187678	ENSG00000187678	HGNC:15533