ARUP Online Scientific Resource

ALPORT Syndrome and COL4A5

Alport Syndrome is a progressive renal disease with cochlear and ocular involvement. The most common form (~80%) is inherited in an X-linked pattern. X-linked Alport Syndrome (OMIM #301050) is caused by mutations in the type IV collagen alpha chain 5 (COL4A5).

The aim of this database is to record all known variants in the COL4A5 gene and their clinical significance. The GenBank sequence NC_000023.9 is used as the reference sequence. The Human Genome Variation Society nomenclature has been used to describe COL4A5 mutations, as well as original nomenclature described by Zhou et al (1994), which includes 202 nucleotides of 5' UTR.

ARUP offers full gene sequencing analysis (test 0051786) for classic X-linked Alport syndrome (80% of mutations) and targeted testing for p.C1564S (c.4692G>A), p.L1649R (c.4946T>G), p.R1677Q (c.5232G>A) mutations for adult type Alport syndrome (test 0051710).

Recently, testing has also been added for full gene analysis (sequencing and detection of deletions and duplication (test 2002398). And test 2002394 for detection of deletions/duplications only.

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Submissions to the database can be made from the submissions tab above.