Congenital adrenal hypoplasia
Gene: NR5A1As 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.
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.
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
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.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for NR5A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
NR5A1 was added to Congenital adrenal hypoplasiapanel. Sources: Expert list