Description
This panel is used for clinical indication 'R150 Congenital adrenal hypoplasia', 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 'R150 Congenital adrenal hypoplasia'.

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.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K
Panel Activity

12 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • John Achermann (UCL Institute of Child Health)

    Group: GeCIP domain
    Workplace: Research lab

  • Damian Smedley (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Abhijit Dixit (Nottingham University Hospitals NHS Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Lauma Freimane (Children's Clinical University Hospital)

    Group: Other
    Workplace: Other diagnostic lab

23 Entities

23 reviewed, 14 green

List Entity Reviews Mode of inheritance Details
23 Entitiess
Green Green List (high evidence)
AAAS
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Achalasia-addisonianism-alacrimia syndrome, OMIM:231550
  • Triple-A syndrome, MONDO:0009279
Tags
Green Green List (high evidence)
AIRE
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ideopathic Primary Adrenal Failure
  • Congenital Adrenal Hypoplasia
Tags
Green Green List (high evidence)
CDKN1C
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies (IMAGe syndrome), 614732
Tags
Green Green List (high evidence)
CYP11A1
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM:613743
Tags
Green Green List (high evidence)
MC2R
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ideopathic Primary Adrenal Failure
  • Congenital Adrenal Hypoplasia
  • Glucocorticoid deficiency, due to ACTH unresponsiveness 202200
Tags
Green Green List (high evidence)
MRAP
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ideopathic Primary Adrenal Failure
  • Congenital Adrenal Hypoplasia
  • Glucocorticoid deficiency 2 607398
Tags
Green Green List (high evidence)
NNT
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ideopathic Primary Adrenal Failure
  • Congenital Adrenal Hypoplasia
  • Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency 614736
Tags
Green Green List (high evidence)
NR0B1
3 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • 46XY sex reversal 2, dosage-sensitive, 300018
  • Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism, 300200
  • Adrenal Hypoplasia, Congenital
  • AHC
  • Ideopathic Primary Adrenal Failure
  • Congenital Adrenal Hypoplasia
  • males with combined glucocorticoid and mineralocorticoid insufficiency with a family history consistent with an X-linked disorder
Tags
Green Green List (high evidence)
NR5A1
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ideopathic Primary Adrenal Failure
  • Congenital Adrenal Hypoplasia
Tags
Green Green List (high evidence)
POLE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • IMAGE-I syndrome, OMIM:618336
Tags
Green Green List (high evidence)
SAMD9
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • MIRAGE syndrome, 617053
Tags
  • missense
Green Green List (high evidence)
SGPL1
4 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Adrenal insufficiency
  • steroid resistant nephrotic syndrome
  • neurological deficit
  • ichthyosis
Tags
Green Green List (high evidence)
STAR
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ideopathic Primary Adrenal Failure
  • Congenital Adrenal Hypoplasia
  • Lipoid adrenal hyperplasia, 201710
Tags
Green Green List (high evidence)
TBX19
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Isolated ACTH insufficiency
  • Adrenocorticotropic hormone deficiency 201400
Tags
Amber Amber List (moderate evidence)
CYP11B2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypoaldosteronism, congenital, due to CMO I deficiency, OMIM:203400
  • Hypoaldosteronism, congenital, due to CMO II deficiency, OMIM:610600
  • Aldosterone to renin ratio raised
Tags
  • Q1_23_promote_green
  • treatable
Amber Amber List (moderate evidence)
MCM4
3 reviews
1 green 		Not set
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Ideopathic Primary Adrenal Failure
  • Congenital Adrenal Hypoplasia
  • autosomal recessive growth retardation, adrenal insufficiency, and a selective NK cell deficiency
Tags
  • founder-effect
Red Red List (low evidence)
ABCD1
2 reviews
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
Phenotypes
  • X-linked adrenoleukodystrophy
Tags
  • gene-therapy-trial
Red Red List (low evidence)
CYP17A1
1 review
1 red 		Not set
Sources
  • UKGTN
Phenotypes
  • Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
  • hypergonadotropic hypogonadism, adrenal insufficiency and mineralocorticoid excess
Tags
Red Red List (low evidence)
CYP21A2
1 review
1 red 		Not set
Sources
  • UKGTN
Phenotypes
  • Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Tags
Red Red List (low evidence)
HSD3B2
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Adrenal hyperplasia, Congenital, Due To 3-beta-Hydroxysteroid Dehydrogenase Deficiency type 2 with or without salt-loss
  • variabe effects on sex steroid synthesis
  • Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency 201810
Tags
Red Red List (low evidence)
KDM1A
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728
  • congenital adrenal hyperplasia, MONDO:0018479
Tags
Red Red List (low evidence)
POMC
1 review
1 red 		Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734
  • {Obesity, early-onset, susceptibility to}, 601665
Tags
Red Red List (low evidence)
TXNRD2
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Familial glucocorticoid deficiency
Tags

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