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LGALS12

Synonyms
GAL12, GRIP1
External resources
Summary
This gene encodes a member of the galectin superfamily, a group of beta-galactoside-binding proteins with conserved carbohydrate recognition domains. The related mouse protein is a primary regulator of the early stages of adipose tissue development. Alternatively spliced transcript variants encoding different isoforms have been described.

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
16
Likely pathogenic
6
VUS
987
Likely benign
331
Benign
0

Patient phenotypes

Proportions of phenotypes among 22 patients carring pathogenic or likely pathogenic variants on LGALS12 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the eye
40.9%
Abnormality of head or neck
27.3%
Abnormality of the musculoskeletal system
22.7%
Abnormality of the ear
18.2%
Abnormality of the genitourinary system
18.2%
Abnormality of the integument
18.2%
Growth abnormality
18.2%
Abnormality of the cardiovascular system
13.6%
Abnormality of the immune system
9.1%
Abnormality of limbs
4.5%
Abnormality of prenatal development or birth
4.5%
Abnormality of the digestive system
4.5%
Abnormality of the endocrine system
4.5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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