Congenital adrenal hypoplasia
Gene: NR0B1EnsemblGeneIds (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 OMIMCreated: 7 Jun 2016, 8:35 a.m.
John Achermann (UCL Institute of Child Health)
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
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.
Set publications
Ellen McDonagh (Genomics England Curator)Publications for NR0B1 were set to 7990958; 26303087; 19320032; 19320031; 19320029;19320028; 19309798
Set publications
Ellen McDonagh (Genomics England Curator)Publications for NR0B1 were set to 7990958; 26303087; 19320032; 19320031;19320029
Set publications
Ellen McDonagh (Genomics England Curator)Publications for NR0B1 were set to 7990958; 26303087; 19320032;19320031
Set publications
Ellen McDonagh (Genomics England Curator)Publications for NR0B1 were set to 7990958; 26303087;19320032
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Damian Smedley (Genomics England Curator)Publications for NR0B1 were set to 7990958; 26303087
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
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)NR0B1 was added to Congenital adrenal hypoplasiapanel. Sources: Eligibility statement prior genetic testing
Added New Source
Eik Haraldsdottir (Genomics England)NR0B1 was added to Congenital adrenal hypoplasiapanel. Sources: Expert list
Added New Source
Eik Haraldsdottir (Genomics England)NR0B1 was added to Congenital adrenal hypoplasiapanel. Sources: UKGTN
Added New Source
Eik Haraldsdottir (Genomics England)NR0B1 was added to Congenital adrenal hypoplasiapanel. Sources: Radboud University Medical Center, Nijmegen