Pituitary hormone deficiency (Version 3.12)

The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

Description

This panel is used for clinical indication 'R159 Pituitary hormone deficiency', and can also be applied as a virtual panel in the analysis of genome or exome data in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R159 Pituitary hormone deficiency'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

Panel Activity

9 reviewers

Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other
Suzanne Page (Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab

64 Entities

56 reviewed, 29 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 64 Entitiess
Green Green List (high evidence)	BRAF	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert review Expert Review Green NHS GMS Phenotypes Cardiofaciocutaneous syndrome, OMIM:115150 cardiofaciocutaneous syndrome, MONDO:0015280 Tags
Green Green List (high evidence)	BTK	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Isolated growth hormone deficiency, type III, with agammaglobulinemia (307200) Tags
Green Green List (high evidence)	CHD7	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center Phenotypes CHARGE syndrome (214800) Hypogonadotropic hypogonadism 5 with or without anosmia (612370) Tags
Green Green List (high evidence)	FGF8	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center Phenotypes Hypogonadotropic hypogonadism 6 with or without anosmia (612702) Tags
Green Green List (high evidence)	FGFR1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center Phenotypes Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950 Hartsfield syndrome, OMIM:615465 Pfeiffer syndrome, OMIM:101600 Jackson-Weiss syndrome, OMIM:123150 Tags
Green Green List (high evidence)	FOXA2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes No OMIM number Congenital hypopituitarism Congenital hyperinsulinism Tags gene-checked
Green Green List (high evidence)	GH1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Phenotypes Growth hormone deficiency, isolated, type II (173100) Growth hormone deficiency, isolated, type IA (262400) Growth hormone deficiency, isolated, type IB (612781) Tags
Green Green List (high evidence)	GHR	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Phenotypes Laron dwarfism, OMIM:262500 Growth hormone insensitivity, partial, OMIM:604271 Increased responsiveness to growth hormone, OMIM:604271 Tags
Green Green List (high evidence)	GHRHR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Phenotypes Growth hormone deficiency, isolated, type IV (618157) Tags
Green Green List (high evidence)	GHSR	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Phenotypes Growth hormone deficiency, isolated partial (615925) Tags
Green Green List (high evidence)	GLI2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center UKGTN Phenotypes Culler-Jones syndrome (615849) Holoprosencephaly 9 (610829) Tags
Green Green List (high evidence)	GLI3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center Phenotypes Greig cephalopolysyndactyly syndrome, OMIM:175700 Pallister-Hall syndrome, OMIM:146510 Tags
Green Green List (high evidence)	GNRHR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Phenotypes Hypogonadotropic hypogonadism 7 without anosmia (146110) Tags
Green Green List (high evidence)	HESX1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Growth hormone deficiency with pituitary anomalies, OMIM:182230 Pituitary hormone deficiency, combined, 5, OMIM:182230 Septooptic dysplasia, OMIM:182230 Tags
Green Green List (high evidence)	HID1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Syndromic infantile encephalopathy Hypopituitarism Developmental and epileptic encephalopathy 105 with hypopituitarism, OMIM:619983 Tags
Green Green List (high evidence)	IGSF1	3 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 Green NHS GMS Radboud University Medical Center Phenotypes Hypothyroidism, central, and testicular enlargement, OMIM:300888 Tags
Green Green List (high evidence)	LHX3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Pituitary hormone deficiency, combined, 3 (221750) Tags
Green Green List (high evidence)	LHX4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Pituitary hormone deficiency, combined, 4 (262700) Tags
Green Green List (high evidence)	OTX2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Pituitary hormone deficiency, combined, 6 (613986) Microphthalmia, syndromic 5 (610125) Tags
Green Green List (high evidence)	PITX2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Phenotypes Axenfeld-Rieger syndrome, type 1 (180500) Anterior segment dysgenesis 4 (137600) Tags
Green Green List (high evidence)	PNPLA6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center Phenotypes Boucher-Neuhauser syndrome (215470) Oliver-McFarlane syndrome (275400) Spastic paraplegia 39, autosomal recessive (612020) Tags
Green Green List (high evidence)	POU1F1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038 Tags
Green Green List (high evidence)	PROKR2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center Phenotypes Hypogonadotropic hypogonadism 3 with or without anosmia (244200) Tags
Green Green List (high evidence)	PROP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Pituitary hormone deficiency, combined, 2 (262600) Tags
Green Green List (high evidence)	RNPC3	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature NHS GMS Phenotypes Pituitary hormone deficiency, combined or isolated 7, OMIM:618160 isolated growth hormone deficiency, type 5, MONDO:0032569 Tags gene-checked
Green Green List (high evidence)	SOX2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center Phenotypes Microphthalmia, syndromic 3, OMIM:206900 anophthalmia/microphthalmia-esophageal atresia syndrome, MONDO:0008799 Tags
Green Green List (high evidence)	SOX3	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center Phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123 Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252 Panhypopituitarism, X-linked, OMIM:312000 Panhypopituitarism, X-linked, MONDO:0010712 Tags
Green Green List (high evidence)	TBC1D32	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert review Expert Review Green NHS GMS Phenotypes Syndromic Hypopituitarism orofaciodigital syndrome Tags gene-checked
Green Green List (high evidence)	TBX19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Phenotypes Adrenocorticotropic hormone deficiency (201400) Tags
Amber Amber List (moderate evidence)	BMP4	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center Phenotypes Microphthalmia, syndromic 6, OMIM:607932 Tags
Amber Amber List (moderate evidence)	CDON	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center Phenotypes Holoprosencephaly 11 (614226) Tags watchlist
Amber Amber List (moderate evidence)	DCHS2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert review Expert Review Amber Phenotypes pituitary stalk interruption syndrome, MONDO:0019828 Tags watchlist
Amber Amber List (moderate evidence)	EIF2S3	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert review Expert Review Amber Phenotypes hypopituitarism, MONDO:0005152 glucose intolerance, MONDO:0001076 MEHMO syndrome, OMIM:300148 MEHMO syndrome, MONDO:0010258 Tags watchlist
Amber Amber List (moderate evidence)	FAT2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert review Expert Review Amber Phenotypes Spinocerebellar ataxia 45, OMIM:617769 spinocerebellar ataxia 45, MONDO:0033480 Tags watchlist
Amber Amber List (moderate evidence)	KCNQ1	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Amber Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Phenotypes Long QT syndrome 1 (192500) Pituitary hormone deficiency Tags Q1_24_expert_review Q1_24_NHS_review Q1_24_promote_green watchlist
Amber Amber List (moderate evidence)	PCSK1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert review Expert Review Amber NHS GMS Phenotypes Obesity with impaired prohormone processing, OMIM:600955 obesity due to prohormone convertase I deficiency, MONDO:0010961 {Obesity, susceptibility to, BMIQ12},OMIM:612362 Tags
Amber Amber List (moderate evidence)	RAX	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert review Expert Review Amber Phenotypes Microphthalmia, isolated 3, OMIM:611038 isolated microphthalmia 3, MONDO:0012604 Tags watchlist
Amber Amber List (moderate evidence)	ROBO1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert review Expert Review Amber NHS GMS Phenotypes Pituitary hormone deficiency, combined or isolated, 8, OMIM:620303 Tags watchlist
Amber Amber List (moderate evidence)	SHH	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Radboud University Medical Center UKGTN Phenotypes Microphthalmia with coloboma 5 (611638) Holoprosencephaly 3 (142945) Tags watchlist
Amber Amber List (moderate evidence)	TCF7L1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes No OMIM number pituitary hormone deficiency Tags
Amber Amber List (moderate evidence)	TGIF1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center UKGTN Phenotypes Holoprosencephaly 4,OMIM:142946 holoprosencephaly 4, MONDO:0007734 Tags
Red Red List (low evidence)	ARNT2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center Phenotypes ?Webb-Dattani syndrome, OMIM:615926 Tags
Red Red List (low evidence)	BMP2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Radboud University Medical Center, Nijmegen Phenotypes Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (617877) Tags
Red Red List (low evidence)	FOXH1	0 reviews	Unknown	Sources Illumina TruGenome Clinical Sequencing Services Phenotypes Holoprosencephaly No OMIM number Tags
Red Red List (low evidence)	GHRH	1 review	Unknown	Sources Illumina TruGenome Clinical Sequencing Services Literature Phenotypes ?Isolated growth hormone deficiency due to defect in GHRF No OMIM number Tags
Red Red List (low evidence)	GPR161	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes pituitary stalk interruption syndrome, MONDO:0019828 Tags
Red Red List (low evidence)	HHIP	0 reviews	Unknown	Sources Literature Phenotypes No OMIM number Tags
Red Red List (low evidence)	HNRNPU	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Radboud University Medical Center Phenotypes Epileptic encephalopathy, early infantile, 54 (617391) Tags
Red Red List (low evidence)	IFT172	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert review Phenotypes retinopathy, metaphyseal dysplasia Tags
Red Red List (low evidence)	L1CAM	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert review Phenotypes CRASH syndrome, OMIM:303350 MASA syndrome, OMIM:303350 Tags
Red Red List (low evidence)	MAGEL2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert review Expert Review Red NHS GMS Phenotypes Schaaf-Yang syndrome, OMIM:615547 Schaaf-Yang syndrome, MONDO:0014243 Tags
Red Red List (low evidence)	NKX2-1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert review Expert Review Red Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978 brain-lung-thyroid syndrome, MONDO:0012593 Tags
Red Red List (low evidence)	NODAL	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Holoprosencephaly Heterotaxy, visceral, 5 (270100) Tags
Red Red List (low evidence)	PAX6	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center Phenotypes Aniridia (106210) Tags
Red Red List (low evidence)	POLR3A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (607694) Tags
Red Red List (low evidence)	PSTPIP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416 Tags
Red Red List (low evidence)	PTCH1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Holoprosencephaly 7, OMIM:610828 Tags
Red Red List (low evidence)	RBM28	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center Phenotypes ?Alopecia, neurologic defects, and endocrinopathy syndrome (612079) ANE syndrome Tags
Red Red List (low evidence)	SIX3	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Holoprosencephaly 2, OMIM:157170 alobar holoprosencephaly, MONDO:0019757 Tags
Red Red List (low evidence)	SLC15A4	0 reviews	Unknown	Sources Literature Phenotypes No OMIM number Tags
Red Red List (low evidence)	SLC20A1	0 reviews	Unknown	Sources Literature Phenotypes No OMIM number Tags gene-checked
Red Red List (low evidence)	WDR11	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Radboud University Medical Center Phenotypes Hypogonadotropic hypogonadism 14 with or without anosmia, OMIM:614858 hypogonadotropic hypogonadism 14 with or without anosmia, MONDO:0013926 Tags
Red Red List (low evidence)	ZIC2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Holoprosencephaly 5 (609637) Tags
Red Red List (low evidence)	ZSWIM6	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Radboud University Medical Center Phenotypes Acromelic frontonasal dysostosis (603671) Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (617865) Tags

Major version comments

2023-03-22 17:10 Sarah Leigh (Genomics England Curator) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2019-07-31 14:30 Ivone Leong (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.0) was signed off under NHS Genomic Medicine Service governance on (31/07/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

2019-01-30 11:29 Ivone Leong (Genomics England Curator) promoted panel to 1.0
Reviewed externally and revised with further curation. Ready to promote to version 1.

Pituitary hormone deficiency (Version 3.12)

9 reviewers

64 Entities

56 reviewed, 29 green

2 reviews

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1 review

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1 review

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1 review

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2 reviews

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1 review

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3 reviews

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1 review

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1 review

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1 review

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1 review

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1 review

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4 reviews

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3 reviews

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1 review

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1 review

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2 reviews

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