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  2. Fatty Acid Oxidation Defects
  3. NADK2
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Fatty Acid Oxidation Defects

Gene: NADK2

Green List (high evidence)
NADK2 (NAD kinase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000152620
EnsemblGeneIds (GRCh37): ENSG00000152620
OMIM: 615787, Gene2Phenotype
NADK2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least three families reported, rated as 'moderate' by ClinGen but only two families considered at time of assessment.
Sources: Expert list
Created: 29 Jul 2020, 11:08 a.m. | Last Modified: 29 Jul 2020, 11:10 a.m.
Panel Version: 0.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
2,4-dienoyl-CoA reductase deficiency, MIM# 616034

Publications

Created: 29 Jul 2020, 11:08 a.m.
Last Modified: 29 Jul 2020, 11:10 a.m.
Panel version: 0.25

Details

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

History Filter Activity

29 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nadk2 has been classified as Green List (High Evidence).

29 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nadk2 has been classified as Amber List (Moderate Evidence).

29 Jul 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NADK2 were set to 24847004; 27940755; 23212377; 28923496

29 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nadk2 has been classified as Amber List (Moderate Evidence).

29 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NADK2 was added gene: NADK2 was added to Fatty Acid Oxidation Defects. Sources: Expert list Mode of inheritance for gene: NADK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NADK2 were set to 24847004; 27940755; 23212377; 28923496 Phenotypes for gene: NADK2 were set to 2,4-dienoyl-CoA reductase deficiency, MIM# 616034 Review for gene: NADK2 was set to AMBER