::: Clinical Pediatric Hematology-Oncology :::

Table. 1. Table 1

Summary of genetic information

Gene (isoform)	Phenotype/MIM number	Mode of inheritance	Variant	Zygosity	Classification
SPOP (NM_001007226.1)	Nabais Sa-de Vries syndrome 618828 618829	Autosomal dominant	c.977A>G p. (Asn326Ser) chr17:47679230	Heterozygous	Variant of uncertain significance
HBB (NM_000518.5)	β-Thalassemia 613985	Autosomal recessive	c.93-22_59del p.?	Heterozygous	Pathogenic
HBA	α-Thalassemia	Autosomal recessive	Common deletion (−α^3.7/αα)	Heterozygous	Pathogenic

MIM, Mendelian Inheritance in Man; SPOP, speckle-type pox virus and zinc finger protein; HBB, hemoglobin subunit beta; HBA, hemoglobin subunit alpha.

Clin Pediatr Hematol Oncol 2024;31:14-9