Table 2 Summary table outlining the number of samples harbouring likely causal variants.
Group No. | Cohort sub-group | Samples | Samples with assumed pathogenic diagnostic variants | Samples with assumed likely pathogenic diagnostic variants | Samples with TYR tri-allelic genotype | % Samples with likely causal variants | Likely causal genes reported |
|---|---|---|---|---|---|---|---|
1 | Idiopathic nystagmus (with complete phenotyping) | 18 | 4 | 3 | 0 | 38.9 | CACNA1A, CACNA1F, FRMD7, HPS5, TYR |
2 | Idiopathic nystagmus (with incomplete phenotyping) | 15 | 2 | 3 | 0 | 50.0 | CACNA1A, CACNA1F, FRMD7, OCA2, SACS |
3 | Albinism/PAX6 disease diagnosis (with complete phenotyping) | 20 | 2 | 2 | 6 | 50.0 | OCA2, TYR, TYRP1 |
4 | Albinism/PAX6 disease diagnosis (with incomplete phenotyping) | 28 | 9 | 1 | 3 | 46.4 | CACNA1A, CACNA1F, HPS5, OCA2, PAX6, TYR |
81 | 17 | 9 | 9 | 43.2 |
