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Table 2 Mendelian disease gene identifications by exome or genome sequencing

From: Unlocking Mendelian disease using exome 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]