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
CCDC141	gene	CCDC141	Expert Review Amber;Literature	Hypogonadotropic hypogonadism (GMS)		Endocrinology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Anosmic hypogonadotropic hypogonadism;congenital hypogonadotropic hypogonadism, MONDO:0015770				27014940;28324054;25192046;251920460;32520725		False	2	0;100;0	5.1	False		ENSG00000163492	ENSG00000163492	HGNC:26821													
CLPP	gene	CLPP	Expert list;Expert Review Amber	Hypogonadotropic hypogonadism (GMS)		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Perrault syndrome 3, OMIM:614129				27899912;23541340;25956234;26970254;27087618;27650058		False	2	100;0;0	5.1	False		ENSG00000125656	ENSG00000125656	HGNC:2084													
CPE	gene	CPE	Expert Review Amber;Literature	Hypogonadotropic hypogonadism (GMS)		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326				26120850;32936766;34383079		False	2	50;50;0	5.1	False		ENSG00000109472	ENSG00000109472	HGNC:2303													
DCAF17	gene	DCAF17	Expert Review Amber;NHS GMS;South West GLH;Wessex and West Midlands GLH	Hypogonadotropic hypogonadism (GMS)		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Woodhouse-Sakati syndrome (OMIM 241080)						False	2	50;0;50	5.1	False		ENSG00000115827	ENSG00000115827	HGNC:25784													
DUSP6	gene	DUSP6	Expert list;Expert Review Amber	Hypogonadotropic hypogonadism (GMS)		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypogonadotropic hypogonadism 19 with or without anosmia, OMIM:615269				23643382;32389901		False	2	100;0;0	5.1	False		ENSG00000139318	ENSG00000139318	HGNC:3072													
FGF17	gene	FGF17	Expert list;Expert Review Amber	Hypogonadotropic hypogonadism (GMS)		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypogonadotropic hypogonadism 20 with or without anosmia, OMIM:615270				23643382;31748124		False	2	0;100;0	5.1	False		ENSG00000158815	ENSG00000158815	HGNC:3673													
IGSF10	gene	IGSF10	Expert Review Amber;Literature	Hypogonadotropic hypogonadism (GMS)		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	delayed puberty;hypogonadotropic hypogonadism;primary ovary insufficiency				27137492;31042289		False	2	0;100;0	5.1	False		ENSG00000152580	ENSG00000152580	HGNC:26384													
SLC29A3	gene	SLC29A3	Expert Review Amber;NHS GMS;South West GLH;Wessex and West Midlands GLH	Hypogonadotropic hypogonadism (GMS)		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782;H syndrome: characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies and hypogonadism						False	2	50;0;50	5.1	False		ENSG00000198246	ENSG00000198246	HGNC:23096													
SOX2	gene	SOX2	Expert Review Amber;NHS GMS;South West GLH;Wessex and West Midlands GLH	Hypogonadotropic hypogonadism (GMS)		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Syndromic Microphthalmia type 3 (OMIM 206900)						False	2	50;0;50	5.1	False		ENSG00000181449	ENSG00000181449	HGNC:11195													
SPRY4	gene	SPRY4	Expert list;Expert Review Amber;Literature;Radboud University Medical Center, Nijmegen	Hypogonadotropic hypogonadism (GMS)		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypogonadotropic hypogonadism 17 with or without anosmia, OMIM:615266				23643382;32389901		False	2	100;0;0	5.1	False		ENSG00000187678	ENSG00000187678	HGNC:15533													
TCF12	gene	TCF12	Expert Review Amber;Literature	Hypogonadotropic hypogonadism (GMS)		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Craniosynostosis 3, 615314;Kallman syndrome, MONDO:0018800				23354436;32620954		False	2	100;0;0	5.1	False		ENSG00000140262	ENSG00000140262	HGNC:11623