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LINS1

Synonyms
LINS, MRT27, WINS1
External resources
Summary
The Drosophila segment polarity gene lin encodes a protein, lines, which plays important roles in development of the epidermis and hindgut. This gene encodes a protein containing a lines-like domain. This gene is located on chromosome 15 and clustered with the gene encoding ankyrin repeat and SOCS box-containing protein 7. 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
13
Likely pathogenic
3
VUS
1,051
Likely benign
372
Benign
35

Patient phenotypes

Proportions of phenotypes among 16 patients carrying pathogenic or likely pathogenic variants on LINS1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
43.8%
Abnormality of head or neck
37.5%
Abnormality of the eye
31.3%
Abnormality of the musculoskeletal system
31.3%
Abnormality of the integument
25%
Abnormality of the cardiovascular system
18.8%
Abnormality of limbs
12.5%
Abnormality of blood and blood-forming tissues
6.3%
Abnormality of the breast
6.3%
Abnormality of the digestive system
6.3%
Abnormality of the ear
6.3%
Abnormality of the endocrine system
6.3%
Abnormality of the genitourinary system
6.3%
Abnormality of the immune system
6.3%
Growth abnormality
6.3%
Neoplasm
6.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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