Congenital adrenal hypoplasia

Gene: NR5A1

Green List (high evidence)

NR5A1 (nuclear receptor subfamily 5 group A member 1)
EnsemblGeneIds (GRCh38): ENSG00000136931
EnsemblGeneIds (GRCh37): ENSG00000136931
OMIM: 184757, Gene2Phenotype
NR5A1 is in 6 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, 1:51 p.m.

Ellen Thomas (Genomics England Curator)

Comment on mode of inheritance: Mainly monoallelic in OMIM but biallelic relevant according to expert review.
Created: 11 Sep 2016, 8:34 a.m.
Comment on list classification: Expert review plus OMIM - can cause early adrenal failure.
Created: 11 Sep 2016, 8:32 a.m.

John Achermann (UCL Institute of Child Health)

Green List (high evidence)

Rarely can be associated with adrenal insufficiency in 46,XX girls or in 46,XY individuals with female appearance. More often causes 46,XY differences in sex development or 46,XX primary ovarian insufficiency with normal adrenal function.
Created: 7 Dec 2015, 1:57 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ideopathic Primary Adrenal Failure
  • Congenital Adrenal Hypoplasia
OMIM
184757
Clinvar variants
Variants in NR5A1
Penetrance
Complete
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.

11 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

11 Sep 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for NR5A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

11 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

3 Aug 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

NR5A1 was added to Congenital adrenal hypoplasiapanel. Sources: Expert list