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COL11A1

Synonyms
CO11A1, COLL6, DFNA37, STL2
External resources
Summary
This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene.

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
35
Likely pathogenic
11
VUS
18,590
Likely benign
14,727
Benign
8,337

Patient phenotypes

Proportions of phenotypes among 39 patients carrying pathogenic or likely pathogenic variants on COL11A1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.5%
Abnormality of the cardiovascular system
25.6%
Abnormality of head or neck
23.1%
Abnormality of the musculoskeletal system
20.5%
Abnormality of the ear
17.9%
Growth abnormality
17.9%
Abnormality of the eye
15.4%
Abnormality of the digestive system
12.8%
Abnormality of the genitourinary system
12.8%
Abnormality of the integument
10.3%
Neoplasm
7.7%
Abnormality of blood and blood-forming tissues
5.1%
Abnormality of limbs
5.1%
Abnormality of prenatal development or birth
5.1%
Abnormality of the respiratory system
2.6%
Constitutional symptom
2.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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