Congenital adrenal hypoplasia
Gene: NR0B1As 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.
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.
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
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.
Publications for NR0B1 were set to 7990958; 26303087; 19320032; 19320031; 19320029;19320028; 19309798
Publications for NR0B1 were set to 7990958; 26303087; 19320032; 19320031;19320029
Publications for NR0B1 were set to 7990958; 26303087; 19320032;19320031
Publications for NR0B1 were set to 7990958; 26303087;19320032
This gene has been classified as Green List (High Evidence).
Publications for NR0B1 were set to 7990958; 26303087
Mode of inheritance for NR0B1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
NR0B1 was added to Congenital adrenal hypoplasiapanel. Sources: Eligibility statement prior genetic testing
NR0B1 was added to Congenital adrenal hypoplasiapanel. Sources: Expert list
NR0B1 was added to Congenital adrenal hypoplasiapanel. Sources: UKGTN
NR0B1 was added to Congenital adrenal hypoplasiapanel. Sources: Radboud University Medical Center, Nijmegen