Table 1 Genetic findings in the AGBL5 cohort.
Region of Origin | Family ID | Patient ID | Sex | Age | Genotype | Allele 1 | Allele 2 | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Nucleotide# | Protein | ACMG class$ | Nucleotide# | Protein | ACMG class$ | ||||||
Italy | F1 | P1 - IT | Female | 55 | Hom | c.323C>G | p.(Pro108Arg) | Likely Pathogenic | c.323C>G | p.(Pro108Arg) | Likely Pathogenic |
Italy | F2 | P2 - IT | Male | 42 | Hom | c.184_185del | p.(Ala63Ter) | Likely Pathogenic | c.184_185del | p.(Ala63Ter) | Likely Pathogenic |
Spain | F3 | P3 - ES | Female | 65 | Comp. Het | c.908G>A | p.(Arg303His) | Likely Pathogenic | c.1565del | p.(Gly522AspfsTer4) | Likely Pathogenic |
Spain | F3 | P4 - ES | Male | 69 | Comp. Het | c.908G>A | p.(Arg303His) | Likely Pathogenic | c.1565del | p.(Gly522AspfsTer4) | Likely Pathogenic |
Spain | F3 | P5 - ES | Male | 51 | Comp. Het | c.908G>A | p.(Arg303His) | Likely Pathogenic | c.1565del | p.(Gly522AspfsTer4) | Likely Pathogenic |
Palestine | F4 | P6 - PS | Male | 27 | Hom | c.170G>A | p.(Trp57Ter) | Likely Pathogenic | c.170G>A | p.(Trp57Ter) | Likely Pathogenic |
Palestine | F5 | P7 - PS | Male | 28 | Hom | c.170G>A | p.(Trp57Ter) | Likely Pathogenic | c.170G>A | p.(Trp57Ter) | Likely Pathogenic |
Switzerland | F6 | P8 - CH | Female | 36 | Hom | c.908G>A | p.(Arg303His) | Likely Pathogenic | c.908G>A | p.(Arg303His) | Likely Pathogenic |
Switzerland | F7 | P9 - CH | Male | 39 | Hom | c.908G>A | p.(Arg303His) | Likely Pathogenic | c.908G>A | p.(Arg303His) | Likely Pathogenic |
Greece | F8 | P10 - GR | Female | 63 | Comp. Het | c.883G>A | p.(Asp295Asn) | Likely Pathogenic | c.316A>G | p.(Met106Val) | VUS |
