Table 3.
Genetic variants, phenotype and family history of 3 patients with enzyme deficiency
| Patient | Diagnosis | Phenotype | Genes | Variants | Alleles | ID dbSNP/ HGMD Accession | Annotation | Intervar/CAAD score | α-LELY (Y/N) |
Family evaluation |
|---|---|---|---|---|---|---|---|---|---|---|
| 34 | ED | Severe |
PKLR (exon 8; 7) |
NM_000298:c.1117_1118insCATGGGGGACA (p.M373fs); c.C993A (p.D331E) | HT | New; rs138476691 CM950949 | Frameshift insertion; missense | Unc Sig/21.7 | N | No family history. Parental sample not available |
| 17 | ED | Severe |
PKLR (exon 10) |
NM_000298:c.G1532A (p.G511E) | HO | CM1615474 | Missense | Unc Sig/26.1 | Y | No Family history. Parental sample not available |
| 36 | ED | NA | G6PD (exon 5) | NM_000402: c.C496T (p.R166C) | XL | CM1111163 | Missense | Likely pathog 21.7 | N | No Family history. Parental sample not available |
ED enzymatic disease, HT heterozygosis, HO homozygosis, XL monoallelic X-linked inheritance