Hypogonadotropic hypogonadism (Version 1.0)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 94 Entitiess
Green Green List (high evidence)	ANOS1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700 Tags
Green Green List (high evidence)	ARHGAP35	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Hypogonadotropic hypogonadism, MONDO:0015770, ARHGAP35-related Tags
Green Green List (high evidence)	BMP4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Disease associations Microphthalmia, syndromic 6, MIM#607932 Tags
Green Green List (high evidence)	CHD7	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Disease associations Hypogonadotropic hypogonadism 5 with or without anosmia (612370) CHARGE syndrome (214800) Tags
Green Green List (high evidence)	CPE	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations BDV syndrome MONDO:0859150 Tags
Green Green List (high evidence)	CUL4B	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Mental retardation, X-linked, syndromic 15 (Cabezas type) 300354 Tags
Green Green List (high evidence)	DCAF17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Woodhouse-Sakati syndrome, MIM# 241080 Tags
Green Green List (high evidence)	DLG2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations delayed puberty, self-limited, MONDO:0859205 Tags SV/CNV
Green Green List (high evidence)	EIF2S3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations MEHMO syndrome, MIM# 300148 Tags
Green Green List (high evidence)	EMX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Schizencephaly, MIM# 269160Hypogonadotropic hypogonadism, MONDO:0015770, EMX2-related 46,XX or XY DSD, EMX2-related Tags
Green Green List (high evidence)	FGF17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	FGF8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism 6 with or without anosmia (612702) Tags
Green Green List (high evidence)	FGFR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Disease associations Hypogonadotropic hypogonadism 2 with or without anosmia 147950 Tags
Green Green List (high evidence)	FOXA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Disease associations Hypopituitarism, MONDO:0005152 Hyperinsulinism, MONDO:0002177 Tags
Green Green List (high evidence)	FSHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism 24 without anosmia, MIM#229070 Tags
Green Green List (high evidence)	GLI2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Disease associations Culler-Jones syndrome (615849) Holoprosencephaly 9 (610829) Tags
Green Green List (high evidence)	GLI3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Disease associations Greig cephalopolysyndactyly syndrome (175700) Pallister-Hall syndrome (146510) Tags
Green Green List (high evidence)	GNAI2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Syndromic disease MONDO:0002254, GNAI2-related Tags
Green Green List (high evidence)	GNRH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841 Tags
Green Green List (high evidence)	GNRHR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism 7 without anosmia (146110) Tags
Green Green List (high evidence)	HESX1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Disease associations Growth hormone deficiency with pituitary anomalies (182230) Pituitary hormone deficiency, combined, 5 (182230) Tags
Green Green List (high evidence)	HID1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 105 with hypopituitarism MIM#619983 Tags
Green Green List (high evidence)	Angelman and Prader-Willi syndromes, Class 2 BP2-BP3 deletions ISCA-37478-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Disease associations Angelman syndrome, MIM# 105830 Prader-Willi syndrome, MIM# 176270 Tags SV/CNV
Green Green List (high evidence)	KISS1R	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism 8 with or without anosmia (MIM#614837) Tags
Green Green List (high evidence)	KLB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Hypogonadotropic hypogonadism MONDO:0018555, KLB-related Tags
Green Green List (high evidence)	LEPR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Obesity due to leptin receptor gene deficiency, MONDO:0013992 Tags clinical trial treatable
Green Green List (high evidence)	LHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism 23 with or without anosmia (MIM#228300) Tags
Green Green List (high evidence)	LHX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Disease associations Pituitary hormone deficiency, combined, 3 (221750) Tags treatable
Green Green List (high evidence)	LHX4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Disease associations Pituitary hormone deficiency, combined, 4 (262700) Tags treatable
Green Green List (high evidence)	MT-TS2	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Disease associations Mitochondrial disease (MONDO:0044970), MT-TS2-related Tags mtDNA
Green Green List (high evidence)	NEUROG3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Congenital malabsorptive diarrhea 4, MONDO:0012479 Hypogonadotropic hypogonadism, MONDO:0018555 Tags
Green Green List (high evidence)	NOS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Hypogonadotropic hypogonadism, MONDO:0018555 Tags
Green Green List (high evidence)	NR0B1	3 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Adrenal hypoplasia, congenital (MIM# 300200) 46XY sex reversal 2, dosage-sensitive, MIM# 300018 Tags SV/CNV
Green Green List (high evidence)	OTX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Disease associations Pituitary hormone deficiency, combined, 6 (613986) Microphthalmia, syndromic 5 (610125) Tags
Green Green List (high evidence)	PCSK1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Obesity with impaired prohormone processing MIM#600955 Tags
Green Green List (high evidence)	PLXNA3	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Hypogonadotropic hypogonadism Tags
Green Green List (high evidence)	PNPLA6	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Disease associations Oliver-McFarlane syndrome (275400) Spastic paraplegia 39, autosomal recessive (612020) Boucher-Neuhauser syndrome (215470) Tags
Green Green List (high evidence)	POLR3A	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Disease associations Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (607694) Tags
Green Green List (high evidence)	POLR3B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism OMIM #614381 Tags
Green Green List (high evidence)	PROK2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism 4 with or without anosmia (MIM#610628) Tags
Green Green List (high evidence)	PROKR2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Disease associations Hypogonadotropic hypogonadism 3 with or without anosmia (244200) Tags
Green Green List (high evidence)	PROP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Disease associations Pituitary hormone deficiency, combined, 2 MIM# 262600 Tags
Green Green List (high evidence)	RNF216	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Cerebellar ataxia-hypogonadism syndrome, MONDO:0008935 Tags
Green Green List (high evidence)	ROBO1	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Pituitary hormone deficiency, combined or isolated, 8, MIM# 620303 Tags
Green Green List (high evidence)	SEMA3A	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897 Tags
Green Green List (high evidence)	SEMA3F	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Hypogonadotropic hypogonadism Tags
Green Green List (high evidence)	SLC29A3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782 Tags
Green Green List (high evidence)	SMCHD1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Bosma arhinia microphthalmia syndrome, MIM# 603457 Arhinia, choanal atresia, microphthalmia MONDO:0011323 Tags
Green Green List (high evidence)	SOX10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Disease associations Kallman syndrome PCWH syndrome (MIM#609136) Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584) Waardenburg syndrome, type 4C (MIM#613266) Tags
Green Green List (high evidence)	SOX11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866 Tags
Green Green List (high evidence)	SOX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:0008799 Microphthalmia, syndromic 3, MIM# 206900 Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900 Tags
Green Green List (high evidence)	SOX3	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Disease associations Panhypopituitarism, X-linked (312000) Mental retardation, X-linked, with isolated growth hormone deficiency (300123) Tags SV/CNV
Green Green List (high evidence)	TAC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism 10 with or without anosmia (MIM#614839) Tags
Green Green List (high evidence)	TACR3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Hypogonadotropic hypogonadism 11 with or without anosmia, MIM# 614840 Tags
Green Green List (high evidence)	TBC1D32	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Syndromic hypopituitarism Tags
Green Green List (high evidence)	TBX3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ulnar-mammary syndrome, MIM# 181450 MONDO:0008411 Tags
Green Green List (high evidence)	TCF12	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Hypogonadotropic hypogonadism 26 with or without anosmia, MIM# 619718 Kallmann syndrome Tags
Green Green List (high evidence)	TUBB3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations TUBB3-related tubulinopathy, MONDO:0100154 Tags
Green Green List (high evidence)	WDR11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert List Expert Review Green Genomics England PanelApp Disease associations Hypogonadotropic hypogonadism 14 with or without anosmia (614858) Tags
Green Green List (high evidence)	ZRSR2	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Orofaciodigital syndrome XXI, MIM# 301132 Tags
Amber Amber List (moderate evidence)	AMH	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Hypogonadotropic hypogonadism, MONDO:0018555 Tags
Amber Amber List (moderate evidence)	ARNT2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Literature Disease associations Webb-Dattani syndrome 615926 Tags
Amber Amber List (moderate evidence)	CCDC141	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Disease associations congenital hypogonadotropic hypogonadism, MONDO:0015770, CCDC141-related Tags
Amber Amber List (moderate evidence)	CLPP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Disease associations Perrault syndrome 3, MIM# 614129 Tags
Amber Amber List (moderate evidence)	ESRP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Disease associations Cleft palate, MONDO:0016064 Hypopituitarism MONDO:0005152 Tags
Amber Amber List (moderate evidence)	FEZF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism 22, with or without anosmia 616030 Tags
Amber Amber List (moderate evidence)	KISS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842 Tags
Amber Amber List (moderate evidence)	NDNF	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Hypogonadotropic hypogonadism 25 with anosmia MIM#618841 Tags
Amber Amber List (moderate evidence)	NLGN3	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations X-linked complex neurodevelopmental disorder MONDO:0100148 {Autism susceptibility, X-linked 1} - MIM#300425 Hypogonadotropic hypogonadism MONDO:0018555 Tags
Amber Amber List (moderate evidence)	PLXNA1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Hypogonadotropic hypogonadism MONDO:0018555, PLXNA1-related Tags
Amber Amber List (moderate evidence)	PLXNB1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Hypogonadotropic hypogonadism MONDO:0018555 Tags
Amber Amber List (moderate evidence)	POU6F2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Hypogonadotropic hypogonadism, MONDO:0018555 Tags
Amber Amber List (moderate evidence)	PRDM13	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761 Tags founder
Amber Amber List (moderate evidence)	RAX	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Microphthalmia, syndromic 16, MIM#611038 Tags
Amber Amber List (moderate evidence)	RBM28	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Disease associations ANE syndrome Alopecia, neurologic defects, and endocrinopathy syndrome (612079) Tags
Amber Amber List (moderate evidence)	SPRY4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Disease associations Hypogonadotropic hypogonadism 17 with or without anosmia, MIM# 615266 Tags disputed
Red Red List (low evidence)	ARHGAP5	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Kallmann syndrome MONDO:0018800 Tags
Red Red List (low evidence)	AXL	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Disease associations Hypogonadotropic hypogonadism, MONDO:0018555, AXL-related Tags
Red Red List (low evidence)	DUSP6	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism 19 with or without anosmia - MIM#615269 Tags
Red Red List (low evidence)	FLRT3	2 reviews 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism 21 with anosmia (MIM# 615271) Tags
Red Red List (low evidence)	HAMP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Haemochromatosis, type 2B, MIM# 613313 Tags
Red Red List (low evidence)	HFE	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Haemochromatosis, MIM# 235200 Tags
Red Red List (low evidence)	HJV	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Hemochromatosis, type 2A, MIM# 602390 Tags new gene name
Red Red List (low evidence)	HS6ST1	1 review 1 red	Other	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880 Tags
Red Red List (low evidence)	IFT56	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations biliary, renal, neurologic, and skeletal syndrome, MONDO:0859191 Tags
Red Red List (low evidence)	IL17RD	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267 Tags disputed
Red Red List (low evidence)	NHLH2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Disease associations Hypogonadotropic hypogonadism 27 without anosmia , MIM# 619755 Tags
Red Red List (low evidence)	NKX2-1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, MONDO:0100520 Tags
Red Red List (low evidence)	NRP1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Hypogonadotropic hypogonadism MONDO:0018555 Tags
Red Red List (low evidence)	NRP2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Hypogonadotropic hypogonadism, MONDO:0018555 Tags
Red Red List (low evidence)	NSMF	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Disease associations Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838 Tags
Red Red List (low evidence)	SEMA3E	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Disease associations ?CHARGE syndrome (MIM#214800) Tags
Red Red List (low evidence)	SLC40A1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Haemochromatosis, type 4, MIM# 606069 Tags
Red Red List (low evidence)	TFR2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Haemochromatosis, type 3 (MIM#604250) Tags

Hypogonadotropic hypogonadism (Version 1.0)

18 reviewers

94 Entities

94 reviewed, 60 green

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