Congenital adrenal hypoplasia

Gene: NR0B1

Green List (high evidence)

NR0B1 (nuclear receptor subfamily 0 group B member 1)
EnsemblGeneIds (GRCh38): ENSG00000169297
EnsemblGeneIds (GRCh37): ENSG00000169297
OMIM: 300473, Gene2Phenotype
NR0B1 is in 5 panels

3 reviews

Ivone Leong (Genomics England Curator)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 5 Feb 2019, 1:48 p.m.

Damian Smedley (Genomics England Curator)

Comment on list classification: Eligibility statement, expert review and 2 sources as well as good evidence from OMIM
Created: 7 Jun 2016, 8:35 a.m.

John Achermann (UCL Institute of Child Health)

Green List (high evidence)

Classic X-linked adrenal hypoplasia congenita (AHC) due to hemizygous mutations in NR0B1 (formerly known as DAX-1). Associated with hypogonadotropic hypogonadism and infertility in males. Usually presents in early infancy or childhood with salt-wasting adrenal insufficiency, but may have isolated mineralocorticoid or glucocorticoid insufficiency initially. Rarely, early puberty or macrophallia may occur. Late-onset forms can first present in adulthood. Very unusually female carriers may display features due to skewed X-inactivation. Mostly due to point mutations in NR0B1 but a proportion of boys have an isolated deletion of the gene or a contiguous gene deletion syndrome with glycerol kinase deficiency and sometimes Duchenne Muscular Dystrophy.
Created: 26 Oct 2015, 5:04 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Adrenal hypoplasia; hypogonadotropic hypogonadism; infertility

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • UKGTN
  • Radboud University Medical Center, Nijmegen
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
OMIM
300473
Clinvar variants
Variants in NR0B1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Feb 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

06/02/2016: Panel revised according to expert review, further curation and discussion with Clinical Geneticists at Genomics England. Ready to promote to version 1.

2 Feb 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for NR0B1 were set to 7990958; 26303087; 19320032; 19320031; 19320029;19320028; 19309798

2 Feb 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for NR0B1 were set to 7990958; 26303087; 19320032; 19320031;19320029

2 Feb 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for NR0B1 were set to 7990958; 26303087; 19320032;19320031

2 Feb 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for NR0B1 were set to 7990958; 26303087;19320032

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Jun 2016, Gel status: 4

Set publications

Damian Smedley (Genomics England Curator)

Publications for NR0B1 were set to 7990958; 26303087

7 Jun 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for NR0B1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

NR0B1 was added to Congenital adrenal hypoplasiapanel. Sources: Eligibility statement prior genetic testing

3 Aug 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

NR0B1 was added to Congenital adrenal hypoplasiapanel. Sources: Expert list

3 Aug 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

NR0B1 was added to Congenital adrenal hypoplasiapanel. Sources: UKGTN

3 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

NR0B1 was added to Congenital adrenal hypoplasiapanel. Sources: Radboud University Medical Center, Nijmegen