Table 3.

The three genotype severity classifications described by Fujinami et al. and the proportion of patients with each of these severities [104,154].

	Description	Proportion of ProgStar cohort	Proportion in Adult Cohort with Age of Onset >17 Years [154]	Proportion in Paediatric Cohort with Age of Onset <17 years [154]
A	Two or more severe or null variants	5.7%	1.6%	20.6%
B	One severe/null variant and at least one missense or in frame deletion insertion	44.4%	40.6%	44.1%
C	Two or more missense or in frame insertion/deletion variants	49.8%	54.7%	35.2%