Congenital adrenal hypoplasia
Gene: NNTEnsemblGeneIds (GRCh38): ENSG00000112992
EnsemblGeneIds (GRCh37): ENSG00000112992
OMIM: 607878, Gene2Phenotype
NNT 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.
Ellen Thomas (Genomics England Curator)
Comment on list classification: Robust association with phenotype.Created: 28 Jun 2016, 2:12 p.m.
John Achermann (UCL Institute of Child Health)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Ideopathic Primary Adrenal Failure
- Congenital Adrenal Hypoplasia
- Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency 614736
- OMIM
- 607878
- Clinvar variants
- Variants in NNT
- 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 NNT were set to 26548497;23474776
Set publications
Ellen McDonagh (Genomics England Curator)Publications for NNT were set to 26548497
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for NNT were set to Ideopathic Primary Adrenal Failure; Congenital Adrenal Hypoplasia; Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency 614736
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for NNT was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)NNT was added to Congenital adrenal hypoplasiapanel. Sources: Expert list