Possible mitochondrial disorder - nuclear genes
Gene: NADK2

NADK2 (NAD kinase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000152620
EnsemblGeneIds (GRCh37): ENSG00000152620
OMIM: 615787, Gene2Phenotype
NADK2 is in 6 panels

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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
?2,4-dienoyl-CoA reductase deficiency, 616034

Publications

29388319

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

NHS GMS
Expert Review Green

Phenotypes

2,4-dienoyl-CoA reductase deficiency, OMIM:616034

OMIM

615787

Clinvar variants

Variants in NADK2

Penetrance

None

Publications

29388319

Panels with this gene

History Filter Activity

13 Apr 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: NADK2 were changed from ?2,4-dienoyl-CoA reductase deficiency, 616034 to 2,4-dienoyl-CoA reductase deficiency, OMIM:616034

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: NADK2 was added gene: NADK2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NADK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NADK2 were set to 29388319 Phenotypes for gene: NADK2 were set to ?2,4-dienoyl-CoA reductase deficiency, 616034

Possible mitochondrial disorder - nuclear genes Gene: NADK2