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ELOVL3

Synonyms
CIG-30, CIG30
External resources
Summary
This gene encodes a protein that belongs to the GNS1/SUR4 family. Members of this family play a role in elongation of long chain fatty acids to provide precursors for synthesis of sphingolipids and ceramides.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
8
Likely pathogenic
0
VUS
447
Likely benign
112
Benign
0

Patient Phenotypes

Proportions of phenotypes among 8 patients carrying pathogenic or likely pathogenic variants on ELOVL3 gene are displayed below. The following symptoms were found in patients with a variant in ELOVL3. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
50%
Abnormality of the nervous system
37.5%
Abnormality of metabolism homeostasis
25%
Abnormality of the musculoskeletal system
25%
Abnormality of the cardiovascular system
12.5%
Abnormality of the digestive system
12.5%
Abnormality of the genitourinary system
12.5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of limbs
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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