Table 2.

Disease Categories among the Probands in the 100,000 Genomes Project Pilot Study.^*

Disease Category	All Family Structures (2183 Probands)	Singleton (881 Probands)	Family Duo (343 Probands)	Family Trio (797 Probands)	Larger Family Structure (162 Probands)
	number of probands (percent)
Cardiovascular disorder	147 (7)	56 (6)	24 (7)	49 (6)	18 (11)
Ciliopathy	69 (3)	34 (4)	14 (4)	16 (2)	5 (3)
Dermatologic disorder	38 (2)	9 (1)	5 (1)	22 (3)	2 (1)
Dysmorphic or congenital abnormality	20 (1)	10 (1)	2 (1)	7 (1)	1 (1)
Endocrine disorder	87 (4)	57 (6)	14 (4)	12 (2)	4 (2)
Gastroenterologic disorder	32 (1)	0	0	18 (2)	14 (9)
Growth disorder	3 (<1)	3 (<1)	0	0	0
Hematologic or immunologic disorder	5 (<1)	2 (<1)	3 (1)	0	0
Hematologic disorder	7 (<1)	0	3 (1)	2 (<1)	2 (1)
Hearing or ear disorder	35 (2)	6 (1)	5 (1)	17 (2)	7 (4)
Metabolic disorder	93 (4)	24 (3)	12 (3)	48 (6)	9 (6)
Intellectual disability	130 (6)	10 (1)	24 (7)	78 (10)	18 (11)
Neurologic or neurodevelopmental disorder†	521 (24)	193 (22)	93 (27)	194 (24)	41 (25)
Ophthalmologic disorder	348 (16)	74 (8)	62 (18)	199 (25)	13 (8)
Renal and urinary tract disorder	176 (8)	125 (14)	21 (6)	26 (3)	4 (2)
Respiratory disorder	2 (<1)	1 (<1)	0	1 (<1)	0
Rheumatologic disorder	48 (2)	14 (2)	6 (2)	25 (3)	3 (2)
Skeletal disorder	62 (3)	15 (2)	11 (3)	23 (3)	13 (8)
Tumor syndrome	293 (13)	231 (26)	31 (9)	27 (3)	4 (2)
Other	67 (3)	17 (2)	12 (3)	34 (4)	4 (2)
Total	2183 (100)	881 (100)	343 (100)	797 (100)	162 (100)

^*Singleton refers to a proband for whom no other family member was recruited, family duo to a parent–proband pair, family trio to both parents and a proband, and family quad to a proband, sibling, and parents.

^†Neurologic and neurodevelopmental symptoms excluded intellectual disability.