Ataxia-Telangiectasia-Like Disorder 1 (MRE11)

Ataxia-telangiectasia-like disorder 1 (ATLD1) is an autosomal recessive disorder caused by pathogenic variants in the gene MRE11. The age of onset is early childhood. This disorder is characterized by susceptibility to radiation and progressive cerebellar degeneration with ataxia (loss of control of body movements) and abnormal eye movements. Life expectancy is unknown. No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):