- Jewish diaspora communities are generally described to have coalesced into three major ethnic subdivisions according to where their ancestors settled:
- Ashkenazi (initially in the Rhineland and France)
- Sephardic (initially in the Iberian Peninsula),
- Mizrahi (Middle East and North Africa)
Clinical Sensitivity for Individuals of Ashkenazi Jewish Descent
| Disease (and Associated Gene) | Carrier Risk After Negative Test for Ashkenazi Jewish Individuals |
|---|---|
| ABCC8-related hyperinsulinism (ABCC8) | 1/1,700 |
| Bloom syndrome (BLM) | 1/3,300 |
| Canavan disease (ASPA) | 1/4,900 |
| Familial dysautonomia (ELP1) | 1/3,100 |
| Fanconi anemia group C (FANCC) | 1/8,800 |
| Gaucher disease (GBA) | 1/140 |
| Glycogen storage disease type 1A (G6PC) | 1/7,000 |
| Joubert syndrome type 2 (TMEM216) | 1/9,100 |
| Lipoamide dehydrogenase deficiency (DLD) | 1/9,300 |
| Maple syrup urine disease type 1B (BCKDHB) | 1/11,000 |
| Mucolipidosis type IV (MCOLN1) | 1/2,500 |
| NEB-related nemaline myopathy (NEB) | 1/10,700 |
| Niemann-Pick disease type A (SMPD1) | 1/900 |
| Tay-Sachs disease (HEXA)a | 1/480 |
| Usher syndrome type 1F (PCDH15) | 1/190 |
| Usher syndrome type 3 (CLRN1) | 1/7,000 |
| Cystic fibrosis |