TABLE 2.

Two variants were identified in RECQL4 (GenBank NM_004260.3) associated with RTS.

Gene	Mode of inheritance	Phenotype	Transcript	Variants	Amino acid change	Function	Type	ACMG evidences	Pathogenicity
RECQL4	AR	Baller–Gerold syndrome (MIM#:218600) RAPADILINO syndrome (MIM#:266280) Rothmund–Thomson syndrome, type 2 (MIM#:268400)	NM_004260.3	c.1547dupC	p.Leu517AlafsTer23	Frameshift	Het	PVS1 + PM2 + PM3 + PP3	Pathogenic
RECQL4	AR		NM_004260.3	c.2752G>T	p.Glu918Ter	Nonsense	Het	PVS1 + PM2 + PM3 + PP3 + PP5	Pathogenic

Note: ACMG evidences (Adzhubei et al., 2010): The American College of Medical Genetics and Genomics (ACMG) has established classification criteria for determining pathogenicity, with each criterion assigned a weight as follows: very strong (PVS1), strong (PS1‐4), moderate (PM1‐6), or supporting (PP1‐5).

Abbreviations: AR, autosomal recessive; Het, heterozygous.