TABLE 3.

Genotype–phenotype correlation.

Group of KAT6B according to Radvanszky et al. (2017); Turkyilmaz and Ozden (2021); Vlckova et al. (2015)	Affected codons	Preducted effect	Phenotype	Polish genotype, number of patient	Polish phenotype, number of patient
1–2	1–1205	NMD	SBBYSS/mild	4	4 (SBBYSS)
3	1205–1350	Truncated protein	GPS	1 and 2	1 (SBBYSS) and 2 (GPS/SBBYSS)
4	1350–1520	Truncated protein	GPS/SBBYSS/intermediate	5	5 (SBBYSS)
5	1520–1935	Truncated protein	SBBYSS	6	6 (GPS/SBBYSS)
6 (hypothesized)	Distal to p.1935	Truncated protein	Unknown (SBBYSS/asymptomatic)	3	3 (mild SBBYSS)

Abbreviation: NMD, non‐mediated mRNA decay.