1. Panels
  2. Newborns main panel
  3. NNT
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

Gene: NNT

Green List (high evidence)
NNT (nicotinamide nucleotide transhydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000112992
EnsemblGeneIds (GRCh37): ENSG00000112992
OMIM: 607878, Gene2Phenotype
NNT is in 5 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 26548497 - 27 NNT disease-causing mutations in 23 patients
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency
OMIM
607878
Clinvar variants
Variants in NNT
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency for gene: NNT

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency for gene: NNT

31 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to NNT. Added phenotypes Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency for gene: NNT Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to NNT. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency for gene: NNT

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: NNT was added gene: NNT was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal