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 |