Table 3.

List of potentially diagnostic genetic variants

The table shows the list of 78 patients in whom a potentially diagnostic genetic variant may be present Asterisks indicate the family segregation studies that were carried out. When more than one variant is present, the ones potentially explaining the clinical phenotype are highlighted in blue

MoI mode of inheritance, All. Freq allele frequency, Ref Seq reference sequence, AD autosomal dominant, AR autosomal recessive, XL X-linked, Het heterozygous, Hom homozygous, Hem hemizygous, CNV copy number variation, Indel insertion/deletion, HUS haemolytic uraemic syndrome