Home > Gene Browser > LPIN2

LPIN2

Synonyms
-
External resources
Summary
Mouse studies suggest that this gene functions during normal adipose tissue development and may play a role in human triglyceride metabolism. This gene represents a candidate gene for human lipodystrophy, characterized by loss of body fat, fatty liver, hypertriglyceridemia, and insulin resistance.

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
7
Likely pathogenic
0
VUS
3,274
Likely benign
1,331
Benign
461

Patient Phenotypes

Proportions of phenotypes among 7 patients carrying pathogenic or likely pathogenic variants on LPIN2 gene are displayed below. The following symptoms were found in patients with a variant in LPIN2. However, patients may have been diagnosed with a different variant.

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

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.