Pituitary hormone deficiency (Version 0.226)

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

22 reviewers

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

129 Entities

129 reviewed, 74 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 129 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Hypothyroidism, central, and testicular enlargement, MIM# 300888 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Holoprosencephaly 11 (614226) Tags
Amber Amber List (moderate evidence)	CLPP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Hypogonadotropic hypogonadism, MONDO:0018555 Tags
Amber Amber List (moderate evidence)	PRDM13	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Holoprosencephaly No OMIM number Tags
Red Red List (low evidence)	GHRH	1 review 1 red	Unknown	Sources Expert Review Red Genomics England PanelApp Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Haemochromatosis, MIM# 235200 Tags
Red Red List (low evidence)	HFE2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hemochromatosis, type 2A, MIM# 602390 Tags new gene name
Red Red List (low evidence)	HHIP	1 review 1 red	Unknown	Sources Expert Review Red Genomics England PanelApp Phenotypes No OMIM number Tags
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 Phenotypes 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 Phenotypes {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Holoprosencephaly 7 (610828) Tags
Red Red List (low evidence)	SEMA3E	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes ?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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Haemochromatosis, type 3 (MIM#604250) Tags
Red Red List (low evidence)	TTC26	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes biliary, renal, neurologic, and skeletal syndrome, MONDO:0859191 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 Phenotypes 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 Phenotypes Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (617865) Acromelic frontonasal dysostosis (603671) Tags

Pituitary hormone deficiency (Version 0.226)

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