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Possible mitochondrial disorder - nuclear genes

Gene: NNT

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

4 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene was demoted from Amber to Red, due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Created: 10 May 2019, 2:02 p.m.
Created: 10 May 2019, 2:02 p.m.

Panel version: 0.164

Carl Fratter (Oxford University Hospitals NHS Trust)

Red List (low evidence)

Updated information and Red review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: Not considered pimary mitochondrial disease, so classified as red
Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 10 May 2019, 1:02 p.m.

Panel version: 0.134

Ivone Leong (Genomics England Curator)

I don't know

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:34 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
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

10 May 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: nnt has been classified as Red List (Low Evidence).

10 May 2019, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: NNT were set to

10 May 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: nnt has been classified as Red List (Low Evidence).

4 Feb 2019, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: NNT was added gene: NNT was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NNT were set to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736