Table 2.
Lifetime risk of 13 autosomal recessive NBIA disorders (including 95% confidence intervals).
| Disease name | Gene | Number of disease-causing variants in gnomAD dataset | Number of disease-causing alleles in gnomAD dataset (worldwide)* | Number of disease-causing alleles in gnomAD dataset (European, Non-Finnish population)⁎⁎ | Number of disease-causing variants In-house database | Number of disease-causing alleles In-house database⁎⁎⁎ | Lifetime risk in worldwide population per 100,000 (gnomAD dataset; 95% CI) | Lifetime risk in European, non-Finnish population per 100,000 (gnomAD dataset; 95% CI) | Lifetime risk per 100,000 (in-house database) |
|---|---|---|---|---|---|---|---|---|---|
| PLAN | PLA2G6 | 108 | 288 | 124 | 34 | 75 | 0.26 (0.21–0.31) | 0.30 (0.23–0.39) | 0.29 (0.18–0.45) |
| PKAN | PANK2 | 79 | 343 | 121 | 25 | 54 | 0.24 (0.20–0.29) | 0.15 (0.10–0.20) | 0.15 (0.08–0.25) |
| CoPAN | COASY | 44 | 306 | 152 | 12 | 41 | 0.15 (0.12–0.19) | 0.19 (0.14–0.26) | 0.09 (0.04–0.16) |
| KRS | ATP13A2 | 63 | 171 | 82 | 18 | 27 | 0.07 (0.06–0.09) | 0.07 (0.05–0.10) | 0.04 (0.02–0.08) |
| ACP | CP | 57 | 110 | 53 | 19 | 34 | 0.04 (0.03–0.05) | 0.06 (0.04–0.08) | 0.06 (0.03–0.11) |
| SPG 50 | AP4M1 | 40 | 101 | 61 | 14 | 23 | 0.02 (0.016–0.031) | 0.05 (0.03–0.07) | 0.03 (0.01–0.06) |
| FAHN | FA2H | 27 | 69 | 43 | 11 | 11 | 0.02 (0.015–0.031) | 0.03 (0.02–0.04) | 0.006 (0.002–0.020) |
| NBIA 8 | CRAT | 42 | 90 | 33 | 14 | 28 | 0.02 (0.01–0.03) | 0.01 (0.008–0.03) | 0.04 (0.02–0.08) |
| LKDMN | SCP2 | 33 | 80 | 46 | 10 | 25 | 0.02 (0.012–0.025) | 0.02 (0.01–0.04) | 0.03 (0.01–0.07) |
| MPAN | C19orf12 | 21 | 84 | 55 | 10 | 33 | 0.01 (0.008–0.018) | 0.03 (0.02–0.04) | 0.06 (0.03–0.11) |
| WSS | DCAF17 | 29 | 49 | 33 | 9 | 47 | 0.01 (0.006–0.015) | 0.02 (0.01–0.03) | 0.11 (0.06–0.20) |
| JES | GTPBP2 | 14 | 31 | 13 | 2 | 10 | 0.003 (0.002–0.006) | 0.003 (0.001–0.007) | 0.005 (0.001–0.017) |
| NBIA 7 | REPS1 | 14 | 14 | 5 | 1 | 5 | 0.0003 (0.0001–0.0008) | 0.0009 (0.0002–0.0026) | 0.001 (0.0001–0.007) |
Total allele number was 282,912
Total allele number was 129,206
Total allele number was 44,324
ACP, Aceruloplasminemia; CI, confidence interval; CoPAN, COASY protein-associated neurodegeneration; FAHN, Fatty acid hydroxylase-associated neurodegeneration; gnomAD, genome Aggregation Database; JES, Jaberi-Elahi syndrome; KRS, Kufor-Rakeb syndrome; LKDMN, Leukoencephalopathy with dystonia and motor neuropathy; MPAN, Mitochondrial membrane protein-associated neurodegeneration; NBIA, Neurodegeneration with brain iron accumulation; NBIA 7, Neurodegeneration with brain iron accumulation 7; NBIA 8, Neurodegeneration with brain iron accumulation 8; PKAN, Panthothenate kinase-associated neurodegeneration; PLAN, Phospholipase A2-associated neurodegeneration; SPG 50, Spastic paraplegia 50, autosomal recessive; WSS, Woodhouse-Sakati syndrome.