Congenital adrenal hypoplasia
Gene: NNTAs 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: Robust association with phenotype.Created: 28 Jun 2016, 2:12 p.m.
Usually presents with cortisol insufficiency ("familial glucocorticoid deficiency"). Sometimes can have salt loss at presentation, leading to a diagnosis of congenital adrenal hypoplasia.Created: 7 Dec 2015, 1:54 p.m.
Mode of inheritance
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.
Publications for NNT were set to 26548497;23474776
Publications for NNT were set to 26548497
Phenotypes for NNT were set to Ideopathic Primary Adrenal Failure; Congenital Adrenal Hypoplasia; Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency 614736
This gene has been classified as Green List (High Evidence).
Mode of inheritance for NNT was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
NNT was added to Congenital adrenal hypoplasiapanel. Sources: Expert list