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COL4A1

Synonyms
BSVD, BSVD1, COL4A1s, PADMAL, RATOR
External resources
Summary
This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. 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
1
VUS
5,024
Likely benign
22,690
Benign
771

Patient phenotypes

Proportions of phenotypes among 11 patients carrying pathogenic or likely pathogenic variants on COL4A1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
45.5%
Abnormality of the eye
45.5%
Abnormality of the nervous system
45.5%
Abnormality of blood and blood-forming tissues
18.2%
Abnormality of the digestive system
18.2%
Abnormality of the ear
18.2%
Abnormality of the integument
18.2%
Abnormality of the musculoskeletal system
18.2%
Growth abnormality
18.2%
Abnormality of limbs
9.1%
Abnormality of prenatal development or birth
9.1%
Abnormality of the cardiovascular system
9.1%
Abnormality of the genitourinary system
9.1%
Abnormality of the immune system
9.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
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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