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NADK2

Synonyms
C5orf33, DECRD, MNADK, NADKD1
External resources
Summary
This gene encodes a mitochondrial kinase that catalyzes the phosphorylation of NAD to yield NADP. Mutations in this gene result in 2,4-dienoyl-CoA reductase deficiency. Alternative splicing results in multiple transcript variants.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
14
Likely pathogenic
0
VUS
2,191
Likely benign
16,074
Benign
0

Patient phenotypes

Proportions of phenotypes among 14 patients carrying pathogenic or likely pathogenic variants on NADK2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
78.6%
Abnormality of head or neck
64.3%
Abnormality of the musculoskeletal system
64.3%
Abnormality of the eye
50%
Abnormality of limbs
42.9%
Abnormality of the integument
42.9%
Abnormality of the ear
35.7%
Growth abnormality
35.7%
Abnormality of the cardiovascular system
28.6%
Abnormality of the digestive system
21.4%
Abnormality of the immune system
21.4%
Abnormality of blood and blood-forming tissues
14.3%
Abnormality of the respiratory system
14.3%
Abnormality of prenatal development or birth
7.1%
Abnormality of the breast
7.1%
Abnormality of the endocrine system
7.1%
Abnormality of the genitourinary system
7.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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