Table 3.

Genetic testing results from panel testing, 100,000 Genomes Project whole genome sequencing, clinical history and PCD diagnostic test results for each proband 1–21 in the Wessex PCD cohort

ACMG variant classification for each variant is given in bold

The table provides case ID, gene and variant details (with GRCh38 genomic coordinates) and classification (following ACMG guidelines) and final diagnosis. Clinical information provided includes clinical history, nasal nitric oxide levels (nNO (nL/min)), high-speed video (HSV) microscopy analysis from fresh nasal brushings and afterculture of these cells at air–liquid interface (ALI) transmission electron microscopy (TEM) and immunofluorescence (IF) microscopy findings. SI = Situs inversus, NRDS = neonatal respiratory distress syndrome, ODA = outer dynein arm defect, IDA = inner dynein arm defect, MTD = Microtubular disorganisation