Table 1: Phenotype, gene, variant and variant classification details of all 10 PGT-M cases. | ||
---|---|---|
Phenotype | Gene | Variant classification |
Cholestasis, progressive familial intrahepatic 3 | ABCB4 | Class 3 |
Hypophosphatasia, childhood Hypophosphatasia, infantile |
ALPL | Class 2 |
Epidermolysis bullosa dystrophica | COL7A1 | Class 2 |
Cardiomyopathy, dilated, with woolly hair and keratoderma Epidermolysis bullosa, lethal acantholytic Skin fragility-woolly hair syndrome |
DSP | Class 2 |
Ellis-van Creveld syndrome | EVC2 | Class 1 |
Fumarase deficiency | FH | Class 1 |
Spondylocarpotarsal synostosis syndrome | FLNB | Class 2 |
Glanzmann thrombasthenia | ITGA2B | Class 3 |
Mucopolysaccharidosis type IIIB | NAGLU | Class 3 |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | NALCN | Class 3 |