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] |