Pituitary hormone deficiency (Version 1.0)

Description

This panel contains genes associated with pituitary hormone deficiency.
Includes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.

It has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).

Panel Activity

23 reviewers

Natasha Brown (Victorian Clinical Genetics Services)
Belinda Chong (Victorian Clinical Genetics Services)
Lauren Akesson (Royal Melbourne Hospital)
Paul De Fazio (Victorian Clinical Genetics Services)
Anna Le Fevre (Victorian Clinical Genetics Services)
Arina Puzriakova (Genomics England)
Danielle Ariti (University of Melbourne)
Manny Jacobs (Victorian Clinical Genetics Services)
Rylee Peters (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Sangavi Sivagnanasundram (Melbourne Health)
Michelle Torres (Victorian Clinical Genetics Services)
Teresa Zhao (Victorian Clinical Genetics Services)
Lilian Downie (Victorian Clinical Genetics Services)
Hali Van Niel (University of Melbourne)
Bryony Thompson (Royal Melbourne Hospital)
Seb Lunke (Victorian Clinical Genetics Services)
Lucy Spencer (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Krithika Murali (Pathology Queensland)
Zornitza Stark (Victorian Clinical Genetics Services)
chirag patel (Genetic Health Queensland)

131 Entities

131 reviewed, 76 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 131 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)	BRAF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Disease associations Cardiofaciocutaneous syndrome, MONDO:0015280 Tags
Green Green List (high evidence)	BTK	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Disease associations Isolated growth hormone deficiency, type III, with agammaglobulinemia (307200) 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)	FGF17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hypogonadotropic hypogonadism 20 with or without anosmia, MIM# 615270 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)	GH1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Disease associations Growth hormone deficiency, isolated, type IA (262400) Growth hormone deficiency, isolated, type IB (612781) Growth hormone deficiency, isolated, type II (173100) Tags
Green Green List (high evidence)	GHR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Disease associations Growth hormone insensitivity, partial (604271) Increased responsiveness to growth hormone (604271) Laron dwarfism (262500) Tags
Green Green List (high evidence)	GHRHR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Disease associations Growth hormone deficiency, isolated, type IV (618157) Tags
Green Green List (high evidence)	GHSR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Disease associations Growth hormone deficiency, isolated partial (615925) 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)	IGSF1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Disease associations Hypothyroidism, central, and testicular enlargement, MIM# 300888 Tags
Green Green List (high evidence)	IRS4	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Disease associations Hypothyroidism, congenital, nongoitrous, 9, MIM# 301035 Tags
Green Green List (high evidence)	KCNQ1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Disease associations Hypopituitarism, MONDO:0005152 Tags
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)	MAGEL2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Schaaf-Yang syndrome, MIM# 615547 Tags
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)	NFKB2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Immunodeficiency, common variable, 10 MIM# 615577 Low serum IgG, IgA, IgM low B cell numbers low switched memory B cells Recurrent sinopulmonary infections, Alopecia endocrinopathies ACTH deficiency 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) 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)	PITX2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Disease associations Anterior segment dysgenesis 4 (137600) Axenfeld-Rieger syndrome, type 1 (180500) 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)	POMC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734 Tags
Green Green List (high evidence)	POU1F1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Disease associations Pituitary hormone deficiency, combined, 1 MIM# 613038 pituitary hypoplasia severe growth failure combined GH, PRL and TSH deficiency distinct facial features (prominent forehead, mid-facial hypoplasia, depressed nasal bridge, deep-set eyes and a short nose with anteverted nostrils) 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)	RNPC3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Growth hormone deficiency Intellectual disability 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, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Disease associations Microphthalmia, syndromic 3, 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)	SOX3_PHPX_GCN STR	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Disease associations Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123 Panhypopituitarism, X-linked MIM#312000 Tags paediatric-onset
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)	TBL1X	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations Hypothyroidism, congenital, nongoitrous, 8 MIM#301033 Tags
Green Green List (high evidence)	TBX19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Disease associations Adrenocorticotropic hormone deficiency, 201400 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)	TSHB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Disease associations Congenital hypothyroidism Hypothryoidism, congenital, nongoitrous 4, 275100 severe isolated central hypothyroidism 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)	CDON	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Genomics England PanelApp Disease associations Holoprosencephaly 11 (614226) 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, biallelic mutations in females	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)	RUNDC1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Disease associations Neurodevelopmental disorder with pituitary anomalies Tags
Amber Amber List (moderate evidence)	SHH	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Genomics England PanelApp Disease associations Hypopituitarism, MONDO:0005152 Microphthalmia with coloboma 5 (611638) Holoprosencephaly 3 (142945) 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
Amber Amber List (moderate evidence)	TGIF1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Genomics England PanelApp Disease associations Holoprosencephaly 4, MONDO:0007734 Tags
Red Red List (low evidence)	AKT3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283 Tags
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)	BMP2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Genomics England PanelApp Disease associations Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (617877) Tags
Red Red List (low evidence)	DUSP6	1 review 1 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)	FOXH1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Disease associations Holoprosencephaly No OMIM number Tags
Red Red List (low evidence)	GHRH	1 review 1 red	Unknown	Sources Expert Review Red Genomics England PanelApp Disease associations No OMIM number ?Isolated growth hormone deficiency due to defect in GHRF Tags
Red Red List (low evidence)	GPR161	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Disease associations Pituitary stalk interruption syndrome MONDO:0019828, GPR161-related 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)	HHIP	1 review 1 red	Unknown	Sources Expert Review Red Genomics England PanelApp Disease associations No OMIM number Tags
Red Red List (low evidence)	HJV	2 reviews 1 green 1 red	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)	HNRNPU	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Disease associations Epileptic encephalopathy, early infantile, 54 (617391) Tags
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)	NODAL	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Genomics England PanelApp Victorian Clinical Genetics Services Disease associations Heterotaxy, visceral, 5 (270100) 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)	PAX6	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Genomics England PanelApp Disease associations Aniridia (106210) Tags
Red Red List (low evidence)	PSTPIP1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Genomics England PanelApp Disease associations Holoprosencephaly Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (604416) Tags
Red Red List (low evidence)	PTCH1	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Genomics England PanelApp Victorian Clinical Genetics Services Disease associations Holoprosencephaly 7 (610828) 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)	SIX3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Genomics England PanelApp Disease associations Holoprosencephaly 2 (157170) Non-acquired combined pituitary hormone deficiency MONDO:0018762 Tags
Red Red List (low evidence)	SLC15A4	1 review 1 red	Unknown	Sources Expert Review Red Genomics England PanelApp Disease associations No OMIM number Tags
Red Red List (low evidence)	SLC20A1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Victorian Clinical Genetics Services Disease associations Bladder-Exstrophy-Epispadias Complex (BEEC) 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)	TCF7L1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Genomics England PanelApp Disease associations Combined pituitary deficiencies, genetic form, MONDO:0013099, TCF7L1-related 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
Red Red List (low evidence)	ZIC2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Genomics England PanelApp Victorian Clinical Genetics Services Disease associations Holoprosencephaly 5 (609637) Tags
Red Red List (low evidence)	ZSWIM6	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Red Genomics England PanelApp Victorian Clinical Genetics Services Disease associations Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (617865) Acromelic frontonasal dysostosis (603671) Tags

Pituitary hormone deficiency (Version 1.0)

23 reviewers

131 Entities

131 reviewed, 76 green

1 review

Sources

Disease associations

Tags

2 reviews

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

2 reviews

Sources

Disease associations

Tags

3 reviews

Sources

Disease associations

Tags

2 reviews

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags