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'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects regarding the assay(s) available.

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

2 reviewers

  • 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

50 Entities

41 reviewed, 25 green

List Entity Reviews Mode of inheritance Details
50 Entitiess
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 (182230)
  • Pituitary hormone deficiency, combined, 5 (182230)
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)
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, 1 (613038)
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)
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
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
  • Hypogonadotropic hypogonadism 2 with or without anosmia (147950)
  • Hartsfield syndrome (615465)
  • Pfeiffer syndrome (101600)
  • Jackson-Weiss syndrome (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
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • Laron dwarfism (262500)
  • Increased responsiveness to growth hormone (604271)
  • Growth hormone insensitivity, partial (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 (175700)
  • Pallister-Hall syndrome (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)
IGSF1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Radboud University Medical Center
Phenotypes
  • Hypothyroidism, central, and testicular enlargement (300888)
Tags
Green Green List (high evidence)
OTX2
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
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)
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)
SOX2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center
Phenotypes
  • Microphthalmia, syndromic 3 (206900)
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
  • Panhypopituitarism, X-linked (312000)
  • Mental retardation, X-linked, with isolated growth hormone deficiency (300123)
Tags
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)
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)
KCNQ1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
  • 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
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • No OMIM number
  • pituitary hormone deficiency
Tags
Red Red List (low evidence)
ARNT2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center
Phenotypes
  • ?Webb-Dattani syndrome (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)
BMP4
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center
Phenotypes
  • Microphthalmia, syndromic 6 (607932)
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
1 review
Unknown
Sources
  • Literature
Phenotypes
  • No OMIM number
  • pituitary stalk interruption syndrome
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)
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
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • 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 (604416)
  • Holoprosencephaly
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 (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
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Holoprosencephaly 2 (157170)
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
Red Red List (low evidence)
TGIF1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center
  • UKGTN
Phenotypes
  • Holoprosencephaly 4 (142946)
Tags
Red Red List (low evidence)
WDR11
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center
Phenotypes
  • Hypogonadotropic hypogonadism 14 with or without anosmia (614858)
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

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