Table 2.

Putative Patients Associated With the Expanded NOTCH2NLC Alleles Identified in the Korea Biobank Cohort

Patient	Sex	Age	NOTCH2NLC GGC repeatsa	Clinical information	Phenotypic association with NOTCH2NLC-related disorders
KBB1	Male	17	105 (109)b	Neurology and neurodevelopmental disorders Motor and sensory disorders of the peripheral nervous system Hereditary neuropathy (including Charcot-Marie-Tooth disease)	Yes
KBB2	Female	48	85	Neurology and neurodevelopmental disorders Motor and sensory disorders of the peripheral nervous system Charcot-Marie-Tooth disease	Yes
KBB3	Male	3	82	Metabolic disorders Specific metabolic abnormalities	Unknown
KBB4	Male	54	77	Ophthalmologic disorders Posterior segment abnormalities Retinal disorders, retinitis pigmentosa	Yes
KBB5	Female	64	77	Neurology and neurodevelopmental disorders Motor and sensory disorders of the peripheral nervous system Charcot-Marie-Tooth disease	Yes
KBB6	Male	68	75	Neurology and neurodevelopmental disorders Adult-onset leukodystrophy	Yes

^aThe repeat counts were estimated using short-read whole-genome sequencing.

^bThe calculated repeat counts using nanopore long-read sequencing in the parenthesis.