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Intellectual disability

Gene: NADK2

Red List (low evidence)

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

1 review

Ellen McDonagh (Genomics England Curator)

PMID: 24847004 - a terminating variant in this gene was identified in a boy who presented in early infancy with a severe encephalopathy, developmental delay, movement abnormalities, and lactic acidosis. NAD kinase is crucial NADP biosynthesis evidenced by decreased mitochondrial NADP(H) levels in patient fibroblasts > DECR and the first step in lysine degradation are performed by NADP-dependent oxidoreductases explaining their in vivo deficiency. The authors conclude that DECR deficiency with hyperlysinemia is caused by mitochondrial NADP(H) deficiency due to a mutation in NADK2.
Created: 19 Dec 2017, 1:48 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

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

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NADK2 was added to Intellectual disability panel. Sources: Literature

12 Mar 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

NADK2 was created by Ellen McDonagh