Table 1.
Alleles Included in Clinical Ashkenazi Jewish Testing Panels
| Disorder | Gene | Alleles on clinical AJ panels | Allele frequency in affected AJ population | AJ heterozygote frequency (all alleles) | Allele frequency in affected non-AJ population | Allele found in DNA samples studied |
|---|---|---|---|---|---|---|
| BS | BLM | 2281del6/ins7 | >99%7 | 1:107,7 111,13 1578 | Yes | |
| NM_000057.2:c.2340delATCTGA. insTAGATTC | ||||||
| CD | ASPA | E285A | 82.9%9 | 1:37,8 38,11 6510 | 2.5%9 | Yes |
| NM_000049.2:c.854A>C | ||||||
| CD | ASPA | Y231X | 14.8%9 | 0.0%9 | Yes | |
| NM_000049.2:c.693C>A | ||||||
| CD | ASPA | A305E | 0%9 | 60%9 | Yes | |
| NM_000049.2:c.914C>A | ||||||
| CD | ASPA | 433(−2)A>G (IVS2-2) | 1.1%9 | 0.0%9 | No | |
| NM_000049.2:c.433–2A>G | ||||||
| FA | FACC | IVS4(+4)A>T | >99%12 | 1:77,8 89,12 9213 | Yes | |
| NG_011707.1:g.82053A>T | ||||||
| FA | FACC | 322delG | Yes | |||
| NM_000136:c.67delG | ||||||
| FD | IKBKAP | IVS20+6T>C (2507+6T>C) | 98%8 | 1:29,8 316 | Yes | |
| NG_008788.1:g.40664T>C | ||||||
| FD | IKBKAP | R696P | 2%8 | No | ||
| NP_03631.2:p.R696P | ||||||
| GD | GBA | N370S | 85%5 | 1:17,8 1810 | Yes | |
| NM_000157.2:c.1226A>C | ||||||
| GD | GBA | 84GG (1035insG) | 6%5 | Yes | ||
| NM_000157.2:c,93_94insG | ||||||
| GD | GBA | L444P | 3.5%5 | Yes | ||
| NM_000157.2:c.1448T>C | ||||||
| GD | GBA | IVS2+1G>A | 1%5 | Yes | ||
| NM_000157.2:c.27+1G>A | ||||||
| GD | GBA | R496H | No | |||
| NM_000157.2:c.1604G>A | ||||||
| GD | GBA | D409H | No | |||
| NM_000157.2:c.1343A>T | ||||||
| GD | GBA | V394L | Yes | |||
| NM_000157.2:c.1297G>T | ||||||
| GD | GBA | del55bp | No | |||
| NM_000157.2:c.1263del55 | ||||||
| MLIV | MCOLN1 | IVS3-2A>G | 66%14 | 1:67,8 100,15 12714 | Yes | |
| NM_020533.1:c.406-2A>G | ||||||
| MLIV | MCOLN1 | del6434(ex1-7) | 30%14 | Yes | ||
| AF_287270:g.511-6943del | ||||||
| NP | SMPD1 | R496L | 97%16,10 | 1:90,16 103,8 12510 | Yes | |
| NP_000534.3:R496L | ||||||
| NP | SMPD1 | fsP330 | Yes | |||
| NM_00543.2:c.990delC | ||||||
| NP | SMPD1 | L302P | Yes | |||
| NP_000534.3:L302P | ||||||
| NP | SMPD1 | delR608 | Yes | |||
| NP_000534.3:R608del | ||||||
| TSD | HEXA | 1278+TATC | 81%17 | 1:3117 | 32%17 | Yes |
| M_16411:c.1278.insTATC | ||||||
| TSD | HEXA | IVS12+1G>C | 15%17 | Yes | ||
| M_16421:g.200G>C | ||||||
| TSD | HEXA | G269S | 2%17 | Yes | ||
| M_16411:c.805G>A | ||||||
| TSD | HEXA | IVS9(+1)G>A | 0%17 | 14%17 | Yes | |
| M_16417:g.149G>A | ||||||
| TSD | HEXA | R247W (pseudo) | 0%17 | Yes | ||
| M_16411:c.739C>T | ||||||
| TSD | HEXA | R249W (pseudo) | 0%17 | No | ||
| M_16411:c.745C>T | ||||||
| TSD | HEXA | del7.6kb | No | |||
| NT_010194:g.del70457939-70449986 | ||||||
| TSD | HEXA | IVS7+1G>A | No | |||
| M_16417:g.149G>A | ||||||
| GSD | G6PC | R83C | ∼100%18 | 1:7118 | Yes | |
| NM_000151.2:c.247C>T | ||||||
| GSD | G6PC | Q347X | ||||
| NM_000151.2:c:1039C>T | Yes |
AJ, Ashkenazi Jewish; BS, Bloom Syndrome; CD, Canavan Disease; FA, Fanconi Anemia; FD, familial dysautonomia; GD, Gaucher disease; MLIV, mucolipidosis type IV; NP, NP disease type A; TSD, Tay-Sachs disease; GSD, glycogen storage disorder type la.