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Mitochondrial disease

Gene: NNT

Amber List (moderate evidence)
NNT (nicotinamide nucleotide transhydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000112992
EnsemblGeneIds (GRCh37): ENSG00000112992
OMIM: 607878, Gene2Phenotype
NNT is in 7 panels

3 reviews

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-established gene disease association.
Created: 23 Mar 2022, 9:25 p.m. | Last Modified: 23 Mar 2022, 9:25 p.m.
Panel Version: 0.11860

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency - MIM#614736

Publications

Created: 23 Mar 2022, 9:25 p.m.
Last Modified: 23 Mar 2022, 9:25 p.m.
Panel version: Imported from Mendeliome panel version 0.11860

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Not classically considered a mitochondrial disorder.
Created: 22 Mar 2020, 11:29 p.m. | Last Modified: 22 Mar 2020, 11:29 p.m.
Panel Version: 0.310

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 22 Mar 2020, 11:29 p.m.
Last Modified: 22 Mar 2020, 11:29 p.m.
Panel version: 0.310

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 cases reported and a mouse model. A protein of the inner mitochondrial membrane with a key role in mitochondrial redox balance.
Sources: NHS GMS
Created: 22 Mar 2020, 5:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 22 Mar 2020, 5:28 a.m.

Panel version: 0.301

Details

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

History Filter Activity

22 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nnt has been classified as Amber List (Moderate Evidence).

22 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nnt has been classified as Amber List (Moderate Evidence).

22 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

22 Mar 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: NNT was added gene: NNT was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NNT were set to 26309815; 22634753 Phenotypes for gene: NNT were set to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736 Review for gene: NNT was set to GREEN