Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

Table 1 Clinical sensitivities

Gene panel type	Total patients run	Overall clinical sensitivity	Selected subgroup clinical sensitivity
Cardiovascular	243	28 %	Cardiomyopathy	32 %
			Congenital heart disease	10 %
			Arrhythmias	31 %
			Aneurysms	29 %
Deafness	147	54 %	Hearing loss	-
Dermatology	68	62 %	Various dermatological features	-
Dysmorphology-Dysplasia	354	38 %	Skeletal dysplasia	45 %
Dysmorphology-Dysplasia	354	38 %	Dysmorphism	32 %
Endocrinology	36	61 %	Pituitary and thyroid disorders	-
Gastroenterology	73	29 %	Persistent jaundice	-
Hematology	33	24 %	Aplastic anemia	-
Inborn errors of metabolism	122	59 %	Metabolic disorders	-
Neurology	524	40 %	Syndromic DD/ID (recognizable syndromes)	47 %
			Syndromic DD/ID NYD (not yet determined, unrecognizable syndrome)	25 %
			Structural brain (cerebral/cerebellar/brain stem) and spinal malformations/anomalies^a	34 %
			Non-syndromic DD/ID NYD (not yet determined, unrecognizable)^b	11 %
			Neurodegenerative disorders	42 %
			Coordination^c/movement disorders	69 %
			Peripheral neuropathy	33 %
			Myopathies/joint abnormalities^d	56 %
PID	196	37 %	Primary immunodeficiency disorders	-
Pulmonology	36	36 %	Chronic lung infection suspected cystic fibrosis	-
Renal	107	57 %	Glomerular/tubular disorders	41 %
			Cystic kidney disease	63 %
			Kidney malformation	69 %
Vision	418	52 %	Retinal dystrophy (syndromic, non-syndromic, RP, CRD, macular dystrophy, FEVR, GFS)	65 %
			Cataract (syndromic and non-syndromic)	34 %
			Aniridia	33 %
			Microphthalmia/anophthalmia (with and without coloboma)	30 %
			Corneal dystrophy (CHED and all other subtypes)	40 %
			Others	23 %

^aPrimary microcephaly cases are included in this group
^bNon-syndromic cases of autism/mental disorder and epilepsy are included under this group
^cAtaxia cases secondary to cerebellar hypoplasia are included under the structural brain abnormalities group
^dCases with arthrogryposis multiplex syndromes are included under the myopathies group
CHED corneal hereditary endothelial dystrophy, CRD cone-rod dystrophy, DD developmental delay, FEVR familial exudative vitreoretinopathy, GFS Goldmann-Favre syndrome, ID intellectual disability, NYD not yet determined, PID primary immunodeficiency, RP retinitis pigmentosa

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