PanelApp
  1. Panels
  2. Adrenal insufficiency
Description
This panel contains genes associated with adrenal insufficiency.

It includes genes from the Genomics England PanelApp 'congenital adrenal hypoplasia' panel V4.5.
Panel Activity

14 reviewers

  • Natasha Brown (Victorian Clinical Genetics Services)

  • Lauren Rogers (Victorian Clinical Genetics Services)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Danielle Ariti (University of Melbourne)

  • Manny Jacobs (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Michelle Torres (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Seb Lunke (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • Krithika Murali (Victorian Clinical Genetics Services)

50 Entities

50 reviewed, 38 green

List Entity Reviews Mode of inheritance Details
50 Entitiess
Green Green List (high evidence)
AAAS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Achalasia-addisonianism-alacrimia syndrome, 231550 (3)
Tags
Green Green List (high evidence)
ABCD1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Adrenoleukodystrophy MIM#300100
Tags
Green Green List (high evidence)
AIRE
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300
Tags
Green Green List (high evidence)
CDKN1C
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • IMAGe syndrome, MIM# 614732
Tags
Green Green List (high evidence)
CYP11A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743
Tags
Green Green List (high evidence)
CYP11B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010
Tags
  • treatable
Green Green List (high evidence)
CYP11B2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600).
Tags
  • treatable
Green Green List (high evidence)
CYP17A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110
Tags
Green Green List (high evidence)
CYP21A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910
  • Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910
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)
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)
HSD3B2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810
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)
LIPA
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cholesteryl ester storage disease, MIM# 278000
  • Wolman disease, MIM# 278000
  • Lysosomal acid lipase deficiency, MONDO:0010204
Tags
  • treatable
Green Green List (high evidence)
MC2R
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200
Tags
  • treatable
Green Green List (high evidence)
MRAP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glucocorticoid deficiency 2, MIM# 607398
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)
NNT
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency - MIM#614736
Tags
Green Green List (high evidence)
NR0B1
2 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)
  • 46XY sex reversal 2, dosage-sensitive, MIM# 300018
Tags
  • SV/CNV
Green Green List (high evidence)
NR5A1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Adrenocortical insufficiency, (MIM#612964)
  • 46, XX sex reversal 4, (MIM# 617480)
  • Premature ovarian failure 7, (MIM#612964)
  • Spermatogenic failure 8, (MIM#613957)
  • 46XY sex reversal 3, (MIM#612965)
Tags
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)
PEX1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 1A (Zellweger) MIM#214100
Tags
Green Green List (high evidence)
POLE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • IMAGE-I syndrome, MONDO:0032684
Tags
Green Green List (high evidence)
POMC
1 review
1 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)
POR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750
  • Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571
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)
SAMD9
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • MIRAGE syndrome (MIM#617053)
Tags
Green Green List (high evidence)
SGPL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • RENI syndrome (MIM#617575)
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)
STAR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lipoid adrenal hyperplasia (MIM#201710)
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)
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)
TXNRD2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glucocorticoid deficiency 5 (GCCD5), MIM#617825
  • MONDO:0040502
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)
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)
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)
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)
KCNQ1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Hypopituitarism, MONDO:0005152
  • Long QT syndrome 1 (192500)
Tags
Amber Amber List (moderate evidence)
MCM4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 54 MIM# 609981
  • Decreased NK cell number and function
  • Viral infections (EBV, HSV, VZV)
  • Short stature
  • B cell lymphoma
  • Adrenal failure
  • Failure to thrive
  • Microcephaly
  • Increased chromosomal breakage
  • Hyperpigmentation
  • Lymphadenopathy
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)
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)
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)
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)
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)
WNT4
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Red
Phenotypes
  • SERKAL syndrome, OMIM #611812
Tags

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