Genetic disorders common in Ashkenazi Jews[1] Disease Mode of inheritance Gene Carrier frequency Favism X-linked G6PD Bloom syndrome Autosomal recessive BLM 1/100 Breast cancer and ovarian cancer Autosomal dominant BRCA1 or BRCA2 1/100 and 1/75, respectively Canavan disease Autosomal recessive ASPA 1/60 Congenital deafness Autosomal recessive GJB2 or GJB6 1/25 Cystic fibrosis Autosomal recessive CFTR 1/25 Haemophilia C Autosomal recessive F11 1/12 Familial dysautonomia Autosomal recessive IKBKAP 1/30 Familial hypercholesterolemia Autosomal dominant LDLR 1/69 Familial hyperinsulinism Autosomal recessive ABCC8 1/125–1/160 Fanconi anemia C Autosomal recessive FACC 1/100 Gaucher disease Autosomal recessive GBA 1/7–1/18 Glycogen Storage Disease type 1a Autosomal recessive G6PC 1/71 Mucolipidosis IV Autosomal recessive MCOLN1 1/110 Niemann–Pick (type A) Autosomal recessive SMPD1 1/90 Nonclassical 21 OHase deficiency Autosomal recessive CPY21 1/6 Parkinson's disease Autosomal dominant LRRK2 1/42[16] Tay–Sachs Autosomal recessive HEXA 1/25–1/30 Torsion dystonia Autosomal dominant DYT1 1/4000 Usher syndrome Autosomal recessive PCDH15 1/72