Table 1. Identified Pathogenic Genes and New Disease Entities by Japanese Researchers.(Reported by Yoichi Matsubara in ICHG 2016 (6). Reproduced with Permission.)

From: Clinical Genetics in Japan: Efforts of Human Genetics Societies and Related Organizations

Amyotrophic lateral sclerosis (OPTN)
Argininemia (ARG1)
AR Spinocerebellar ataxia (SYT14)
Axial spondylometaphyseal dysplasia (C21orf2)
Beta ketothiolase deficiency (ACAT1)
BH4-responsive phenylketonuria (PAH)
Camurati-Engelmann disease (TGFB1)
Charcot-Marie-Tooth disease type 1B (MPZ)
Chediak-Higashi syndrome (LYST)
Citrin deficiency (SLC25A13)
Coffin-Siris syndrome (SWI/SNF genes, SOX11)
Congenital insensitivity to pain with anhidrosis (NTRK1)
Ehlers-Danlos syndrome, Kosho type (CHST14)
Familial polyposis/colon cancer (APC)
Fukuyama congenital muscular dystrophy (FKTN)
Glycosylation disorder (COG2, PIGG)
Hypospadias (MAMLD1 (CXorf6) )
Hypothalamic hamartomas (OFD1, GLI3)
Kabuki syndrome (KDM6A)
Kagami-Ogata syndrome (UPD(14)pat)
Leigh syndrome (GYG2)
Mabry syndrome (PIGL)
Machado-Joseph disease (ATNX3)
Marfan syndrome type 2 (TGFBR2)
MELAS syndrome (MT-TL1)
Microphthalmia syndrome (SMOC1)
Morquio syndrome (GALNS)
Moyamoya disease (RNF213)
Multiple carboxylase deficiency (HLCS)
Nemaline myopathy (KLHL40)
Nijmegen breakage syndrome (NBS1)
Non-ketotic hyperglycinemia (GLDC, AMT, GCSH)
Ohtahara syndrome (STXBP1, KCNQ2, CASK, GNAO1)
Peroxisomal disorders
Porencephaly (COL4A2)
Primary systemic carnitine deficiency (SLC22A5)
Prolidase deficiency (PEPD)
Radioulnar synostosis with amegakaryocytic thrombocytopenia (MECOM)
Costello syndrome (HRAS)
CFC syndrome (KRAS, BRAF)
Noonan syndrome (RIT1)
Schizencephaly (COL4A1)
Segawa syndrome (TH)
Sotos syndrome (NSD1)
Spinal extradural arachnoid cyst (HOXD4)
Steroid-resistant nephrotic syndrome (NUP107)
Takenouchi-Kosaki syndrome (CDC42)
Tarui disease (glycogen storage disease, type VII)(PFKM)
Tyrosinemia type III (HPD)
Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL)
West syndrome (SPTAN1)
Xeroderma pigmentosum, group A (XPA)