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Table 1 Examples of diseases caused by non-allelic HR.

From: How homologous recombination generates a mutable genome

Disease Inheritance Type of NAHR Size OMIM
Velocardiofacial syndrome Autosomal dominant Deletion 3 Mb 192430
Haemophilia A X-linked recessive Inversion 500 kb 306700
Charcot-Marie-Tooth type 1A Autosomal dominant Duplication 1.5 Mb 118220
AZFa Y-linked Deletion 800 kb 400042
Congenital adrenal hyperplasia Autosomal recessive Gene conversion N/A 201910
Gaucher disease Autosomal recessive Gene conversion N/A 230800
Hunter syndrome X-linked recessive Inversion 20 kb 309900
Prader-Willi Syndrome Autosomal dominant Deletion 3.5 Mb 176270
Alpha-thalassaemia Autosomal recessive Deletion 3.7 kb* 141800
  1. NAHR, non-allelic homologous recombination; OMIM, database of online Mendelian inheritance in Man; Mb, megabases; kb, kilobases.
  2. * There are alpha-globin deletions of varying sizes, this is one of the smallest.