Definition

The RPL5 gene encodes the large ribosomal subunit protein uL18; haploinsufficiency impairs ribosome assembly and erythroid protein synthesis. It accounts for 7 to 12% of DBA cases, and craniofacial, congenital heart and thumb defects are markedly more severe than in other subtypes; cleft lip/palate is seen in about 45 to 50%.

Gene/region analyzed

RPL5 - Exon 1, RPL5 - Exon 2, RPL5 - Exon 3, RPL5 - Exon 4, RPL5 - Exon 5, RPL5 - Exon 6, RPL5 - Exon 7, RPL5 - Exon 8

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Hereditary, autosomal dominant.

Related Tests

Inheritance Patterns

Describes how a genetic condition is passed on within a family. There are five main patterns

Go to term →

Carrier (Heterozygous / Homozygous)

Why it matters: In autosomal recessive inheritance, when each parent is a carrier (while both appear healthy), the chance of their child being born with the disease is 25% in each

Go to term →

VUS (Variant of Uncertain Significance)

This is the situation where the test has detected a change in the DNA, but the role of this change in the development of disease is unconfirmed.

Go to term →

How to Read a Genetic Test Result (Positive / Negative / VUS)

A genetic test result falls into three main categories

Go to term →

Types of Genetic Tests

A genetic test is a type of medical test that detects changes in genes, chromosomes or proteins. Today there are more than 77,000 genetic tests available.

Go to term →