Table 2

Mendelian disease gene identifications by exome or genome sequencing

Disorder

Inheritance

Gene identified

Scope

References

Congenital chloride diarrhea

Recessive

SLC26A3

Exome

Choi et al. [16]

Miller syndrome

Recessive

DHODH

Exome

Ng et al. [14]

Charcot-Marie-Tooth neuropathy

Recessive

SH3TC2

Genome

Lupski et al. [20]

Metachondromatosis

Dominant

PTPN11

Genome

Sobreira et al. [23]

Schinzel-Giedion syndrome

Dominant

SETBP1

Exome

Hoischen et al. [29]

Nonsyndromic hearing loss

Recessive

GPSM2

Exome

Walsh et al. [69]

Perrault syndrome

Recessive

HSD17B4

Exome

Pierce et al. [25]

Hyperphosphatasia mental retardation syndrome

Recessive

PIGV

Exome

Krawitz et al. [68]

Sensenbrenner syndrome

Recessive

WDR35

Exome

Gilissen et al. [26]

Cerebral cortical malformations

Recessive

WDR62

Exome

Bilguvar et al. [70]

Kaposi sarcoma

Recessive

STIM1

Exome

Byun et al. [71]

Spinocerebellar ataxia

Dominant

TGM6

Exome

Wang et al. [72]

Combined hypolipidemia

Recessive

ANGPTL3

Exome

Musunuru et al. [40]

Complex I deficiency

Recessive

ACAD9

Exome

Haack et al. [52]

Autoimmune lymphoproliferative syndrome

Recessive

FADD

Exome

Bolze et al. [73]

Amyotrophic lateral sclerosis

Dominant

VCP

Exome

Johnson et al. [74]

Nonsyndromic mental retardation

Dominant

Various

Exome

Vissers et al. [31]

Kabuki syndrome

Dominant

MLL2

Exome

Ng et al. [30]

Inflammatory bowel disease

Dominant

XIAP

Exome

Worthey et al. [18]

Nonsyndromic mental retardation

Recessive

TECR

Exome

Caliskan et al. [75]

Retinitis pigmentosa

Recessive

DHDDS

Exome

Züchner et al. [56]

Osteogenesis imperfecta

Recessive

SERPINF1

Exome

Becker et al. [53]

Dilated cardiomyopathy

Dominant

BAG3

Exome

Norton et al. [24]

Hajdu-Cheney syndrome

Dominant

NOTCH2

Exome

Simpson et al. [76]

Hajdu-Cheney syndrome

Dominant

NOTCH2

Exome

Isidor et al. [77]

Skeletal dysplasia

Recessive

POP1

Exome

Glazov et al. [78]

Amelogenesis

Recessive

FAM20A

Exome

O'Sullivan et al. [80]

Chondrodysplasia and abnormal joint development

Recessive

IMPAD1

Exome

Vissers et al. [80]

Progeroid syndrome

Recessive

BANF1

Exome

Puente et al. [81]

Infantile mitochondrial cardiomyopathy

Recessive

AARS2

Exome

Götz et al. [82]

Sensory neuropathy with dementia and hearing loss

Dominant

DNMT1

Exome

Klein et al. [49]

Autism

Dominant

Various

Exome

O'Roak et al. [32]

Gilissen et al. Genome Biology 2011 12:228   doi:10.1186/gb-2011-12-9-228