Home > Gene Browser > COL4A6

COL4A6

Synonyms
CXDELq22.3, DELXq22.3, DFNX6
External resources
Summary
This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Alternative splicing results in multiple transcript variants encoding different isoforms.

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
20
Likely pathogenic
1
VUS
7,925
Likely benign
15,602
Benign
2,881

Patient phenotypes

Proportions of phenotypes among 16 patients carrying pathogenic or likely pathogenic variants on COL4A6 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
56.3%
Abnormality of the eye
25%
Abnormality of head or neck
18.8%
Abnormality of the musculoskeletal system
18.8%
Abnormality of blood and blood-forming tissues
6.3%
Abnormality of the ear
6.3%
Abnormality of the genitourinary system
6.3%
Abnormality of the integument
6.3%
Constitutional symptom
6.3%
Growth abnormality
6.3%
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 cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
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