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Inborn errors of metabolism

Gene: NADK2

Green List (high evidence)

NADK2 (NAD kinase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000152620
EnsemblGeneIds (GRCh37): ENSG00000152620
OMIM: 615787, Gene2Phenotype
NADK2 is in 5 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Added the 'treatable' tag, as PMID: 27940755 reports clinical improvement in a child treated with lysine-restricted diet together with cofactors (such as ubidecarenone, idebenone, vitamin E, and creatine) and pyridoxal phosphate administration.
Created: 5 Jun 2019, 11:23 a.m.

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 3 biallelic variants reported in 3 unrelated cases, with supportive functional studies.
Created: 16 Apr 2019, 3:51 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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

6 Aug 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to NADK2. Mode of inheritance for gene NADK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?2,4-dienoyl-CoA reductase deficiency 616034 for gene: NADK2 Publications for gene NADK2 were changed from to 24847004; 29388319; 27940755 Rating Changed from Red List (low evidence) to Green List (high evidence)

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: NADK2 was added gene: NADK2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NADK2 was set to Unknown