Remarks |
Unaffected carrier; affected child is GM27448 (fibro) and GM27857 (stem cell); whole genome sequencing (WES) revealed an X-linked hemizygous mutation in SLC6A8 ChrX:152959835-152960127 novel variant in child and for which mother is likely mosaic; the following are variants of uncertain significance (VUS) in the child for which the mother is heterozygous: C3ORF20 Chr3:14768516, rs13939744; GNL2 Chr1:38034840, rs371807683; KRBA1 Chr7:149419915; SSPO Chr7:149528253, rs202079585; TAF5 Chr10:105139477, rs1424510902 |