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Possible mitochondrial disorder - nuclear genes

Gene: NADK2

Green List (high evidence)

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

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • ?2,4-dienoyl-CoA reductase deficiency, 616034
OMIM
615787
Clinvar variants
Variants in NADK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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