Mitochondrial disorders
Gene: NADK2
NADK2 (NAD kinase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000152620
EnsemblGeneIds (GRCh37): ENSG00000152620
OMIM: 615787, Gene2Phenotype
NADK2 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000152620
EnsemblGeneIds (GRCh37): ENSG00000152620
OMIM: 615787, Gene2Phenotype
NADK2 is in 6 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)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Phenotypes
-
- 2,4-dienoyl-CoA reductase deficiency, OMIM:616034
- Tags
- OMIM
- 615787
- Clinvar variants
- Variants in NADK2
- Penetrance
- Complete
- Publications
- 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
5 Jun 2019, Gel status: 3
Added Tag
Ellen McDonagh (Genomics England Curator)Tag treatable tag was added to gene: NADK2.
16 Apr 2019, Gel status: 3
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: nadk2 has been classified as Green List (High Evidence).
16 Apr 2019, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: NADK2 were set to
16 Apr 2019, Gel status: 1
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: NADK2 was changed from to BIALLELIC, autosomal or pseudoautosomal
16 Apr 2019, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: NADK2 were changed from to ?2,4-dienoyl-CoA reductase deficiency 616034
30 Jun 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)NADK2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert