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MAKE SURE TO REVIEW THE GENE SOP FOR INTERPRETATION
All conditions meet at least moderate
LOF in NM_004321.6 is a clear mechanism for disease for AD hereditary spastic paraplegia w/o cognitive deficits. HOWEVER, please note there is an alternately spliced exon present only in NM_001244008, no truncating variants in this exon have been described in AD HSP.
AR HSAN - LOF suspected, a truncating variant reported in several families by Riviere 2011 is located in an alternately spliced exon (exon 27 in NM_00244088.2).
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