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  2. Pituitary hormone deficiency

Pituitary hormone deficiency (Version 0.35)

Level 2: Endocrine disorders

Relevant disorders: Hypopituitarism, HP:0040075
Panel types: Victorian Clinical Genetics Services, Rare Disease
Description
This panel is maintained by VCGS. With thanks to Genomics England PanelApp for the original content of the panel.
Panel Activity

6 reviewers

  • Natasha Brown (Victorian Clinical Genetics Services)

  • Belinda Chong (Victorian Clinical Genetics Services)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Michelle Torres (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

56 Entities

15 reviewed, 28 green

List Entity Reviews Mode of inheritance Details
56 Entitiess
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 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 List (high evidence)
FGF8
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hypogonadotropic hypogonadism 6 with or without anosmia (612702)
Tags
Green List (high evidence)
FGFR1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Jackson-Weiss syndrome (123150)
  • Pfeiffer syndrome (101600)
  • Hypogonadotropic hypogonadism 2 with or without anosmia (147950)
  • Hartsfield syndrome (615465)
Tags
Green List (high evidence)
FOXA2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • No OMIM number
  • Congenital hyperinsulinism
  • Congenital hypopituitarism
Tags
Green List (high evidence)
GH1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Growth hormone deficiency, isolated, type IA (262400)
  • Growth hormone deficiency, isolated, type IB (612781)
  • Growth hormone deficiency, isolated, type II (173100)
Tags
Green List (high evidence)
GHR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Growth hormone insensitivity, partial (604271)
  • Increased responsiveness to growth hormone (604271)
  • Laron dwarfism (262500)
Tags
Green List (high evidence)
GHRHR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Growth hormone deficiency, isolated, type IV (618157)
Tags
Green List (high evidence)
GLI2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Culler-Jones syndrome (615849)
  • Holoprosencephaly 9 (610829)
Tags
Green List (high evidence)
GLI3
0 reviews
 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 List (high evidence)
GNRHR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hypogonadotropic hypogonadism 7 without anosmia (146110)
Tags
Green List (high evidence)
HESX1
0 reviews
 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 List (high evidence)
HID1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic infantile encephalopathy
  • Hypopituitarism
Tags
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 List (high evidence)
LHX3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Pituitary hormone deficiency, combined, 3 (221750)
Tags
  • treatable
Green List (high evidence)
LHX4
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Pituitary hormone deficiency, combined, 4 (262700)
Tags
  • treatable
Green List (high evidence)
OTX2
0 reviews
 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 List (high evidence)
PITX2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Anterior segment dysgenesis 4 (137600)
  • Axenfeld-Rieger syndrome, type 1 (180500)
Tags
Green List (high evidence)
PNPLA6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Oliver-McFarlane syndrome (275400)
  • Spastic paraplegia 39, autosomal recessive (612020)
  • Boucher-Neuhauser syndrome (215470)
Tags
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 List (high evidence)
PROKR2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hypogonadotropic hypogonadism 3 with or without anosmia (244200)
Tags
Green List (high evidence)
PROP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Pituitary hormone deficiency, combined, 2 (262600)
Tags
Green List (high evidence)
RNPC3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Growth hormone deficiency
  • Intellectual disability
Tags
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 List (high evidence)
SOX2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Microphthalmia, syndromic 3 (206900)
Tags
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 List (high evidence)
TBX19
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Adrenocorticotropic hormone deficiency (201400)
Tags
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 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 List (moderate evidence)
GHSR
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Growth hormone deficiency, isolated partial (615925)
Tags
Amber List (moderate evidence)
KCNQ1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Pituitary hormone deficiency
  • Long QT syndrome 1 (192500)
Tags
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 List (moderate evidence)
SHH
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Microphthalmia with coloboma 5 (611638)
  • Holoprosencephaly 3 (142945)
Tags
Amber List (moderate evidence)
SOX3
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Panhypopituitarism, X-linked (312000)
  • Mental retardation, X-linked, with isolated growth hormone deficiency (300123)
Tags
  • SV/CNV
Amber List (moderate evidence)
TBC1D32
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Syndromic hypopituitarism
Tags
Amber List (moderate evidence)
TCF7L1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • No OMIM number
  • pituitary hormone deficiency
Tags
Red List (low evidence)
ARNT2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • ?Webb-Dattani syndrome (615926)
Tags
Red List (low evidence)
BMP2
0 reviews
 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 List (low evidence)
BMP4
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Microphthalmia, syndromic 6 (607932)
Tags
Red List (low evidence)
FOXH1
0 reviews
 Unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Holoprosencephaly
  • No OMIM number
Tags
Red List (low evidence)
GHRH
0 reviews
 Unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • No OMIM number
  • ?Isolated growth hormone deficiency due to defect in GHRF
Tags
Red List (low evidence)
GPR161
0 reviews
 Unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • No OMIM number
  • pituitary stalk interruption syndrome
Tags
Red List (low evidence)
HHIP
0 reviews
 Unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • No OMIM number
Tags
Red List (low evidence)
HNRNPU
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Epileptic encephalopathy, early infantile, 54 (617391)
Tags
Red List (low evidence)
NODAL
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Holoprosencephaly
  • Heterotaxy, visceral, 5 (270100)
Tags
Red List (low evidence)
PAX6
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Aniridia (106210)
Tags
Red List (low evidence)
POLR3A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (607694)
Tags
Red List (low evidence)
PSTPIP1
0 reviews
 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 List (low evidence)
PTCH1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Holoprosencephaly 7 (610828)
Tags
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 List (low evidence)
SLC15A4
0 reviews
 Unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • No OMIM number
Tags
Red List (low evidence)
SLC20A1
0 reviews
 Unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • No OMIM number
Tags
Red List (low evidence)
TGIF1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Holoprosencephaly 4 (142946)
Tags
Red List (low evidence)
WDR11
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Hypogonadotropic hypogonadism 14 with or without anosmia (614858)
Tags
Red List (low evidence)
ZIC2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Holoprosencephaly 5 (609637)
Tags
Red List (low evidence)
ZSWIM6
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (617865)
  • Acromelic frontonasal dysostosis (603671)
Tags

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