We're missing a number of diagnoses where an inactivated healthy X allele in females is failing to rescue a Heterozygous variant
Proposed Changes
Adds a new MOI test - XDominantFemaleInactivation
This only considers female het samples, and will be run whenever a gene on chrX has the associated MOI Hemi_Bi_in_Females.
Female Het variants will be evaluated under this lenient mode, and if successful, the variants will be flagged with 'Lenient inactivated consideration - may show dominant effect'
Family checks are still in place - both het males and females will be used when determining if this is a good fit for the family
Fixes
Proposed Changes
Hemi_Bi_in_Females.'Lenient inactivated consideration - may show dominant effect'Checklist