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Inborn errors of metabolism

Gene: NNT

Green List (high evidence)

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

2 reviews

Catherine Snow (Genomics England)

Green List (high evidence)

Relevant phenotype in OMIM but not in Gene2Phenotype. Sufficient cases in OMIM to classify NNT as Green
Created: 23 Oct 2019, 11:09 a.m. | Last Modified: 23 Oct 2019, 11:09 a.m.
Panel Version: 1.376

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736

Publications

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736
OMIM
607878
Clinvar variants
Variants in NNT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Oct 2019, Gel status: 3

Set publications

Catherine Snow (Genomics England)

Publications for gene: NNT were set to

23 Oct 2019, Gel status: 3

Set Phenotypes

Catherine Snow (Genomics England)

Phenotypes for gene: NNT were changed from to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736

23 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: nnt has been classified as Green List (High Evidence).

23 Oct 2019, Gel status: 1

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene: NNT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: NNT was added gene: NNT was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NNT was set to Unknown