Summary of patient characteristics, n = 52
| Age at investigation | |
| Median, y (range) | 18 (2-65) |
| Sex, n (%) | |
| Female | 32 (62) |
| Male | 20 (38) |
| Ethnicity, n (%) | |
| British Indian | 1 (2) |
| British Pakistani | 4 (8) |
| Druze | 1 (2) |
| East African | 3 (6) |
| Fijian Indian | 1 (2) |
| Finnish | 23 (44) |
| North African | 1 (2) |
| Puerto Rican | 1 (2) |
| Swedish | 2 (4) |
| White (not specified) | 15 (28) |
| Initial condition, n (%) | |
| Sibling with biallelic ERCC6L2 mutation without diagnosis of BMF, MDS, or AML | 5 (10) |
| BMF | 32 (62) |
| MDS | 9 (17) |
| MDS/AML∗ | 2 (4) |
| AML | 3 (6) |
| Other HM (ALL) | 1 (2) |
| ERCC6L2 genotype, n (%) | |
| Homozygous | 39 (75) |
| Compound heterozygous | 13 (25) |
| Individuals by ERCC6L2 mutation type, n (%) | |
| Biallelic frameshift | 29 (55) |
| Biallelic nonsense | 5 (10) |
| Biallelic splicing | 1 (2) |
| Biallelic exon deletion | 4 (8) |
| Biallelic missense | 4 (8) |
| Mixed | 9 (17) |
| Age at investigation | |
| Median, y (range) | 18 (2-65) |
| Sex, n (%) | |
| Female | 32 (62) |
| Male | 20 (38) |
| Ethnicity, n (%) | |
| British Indian | 1 (2) |
| British Pakistani | 4 (8) |
| Druze | 1 (2) |
| East African | 3 (6) |
| Fijian Indian | 1 (2) |
| Finnish | 23 (44) |
| North African | 1 (2) |
| Puerto Rican | 1 (2) |
| Swedish | 2 (4) |
| White (not specified) | 15 (28) |
| Initial condition, n (%) | |
| Sibling with biallelic ERCC6L2 mutation without diagnosis of BMF, MDS, or AML | 5 (10) |
| BMF | 32 (62) |
| MDS | 9 (17) |
| MDS/AML∗ | 2 (4) |
| AML | 3 (6) |
| Other HM (ALL) | 1 (2) |
| ERCC6L2 genotype, n (%) | |
| Homozygous | 39 (75) |
| Compound heterozygous | 13 (25) |
| Individuals by ERCC6L2 mutation type, n (%) | |
| Biallelic frameshift | 29 (55) |
| Biallelic nonsense | 5 (10) |
| Biallelic splicing | 1 (2) |
| Biallelic exon deletion | 4 (8) |
| Biallelic missense | 4 (8) |
| Mixed | 9 (17) |
Per the ELN2022 classification.21