Fig. 2

Number of available cases per condition as of December 1, 2010, sorted in descending order. The split scale on the Y-axis and the darker color are used to highlight those conditions with at least 50 cases, the initial goal of the collaborative project. Panels A–C: primary targets of the ACMG uniform panel; panels D–F: secondary targets; and panels G–I: other conditions, including carriers and maternal conditions. Left column: amino acid disorders; middle column: fatty acid oxidation disorders; and right column: organic acid disorder. Abbreviations (in alphabetical order): 2M3HBA, 2-methyl 3-hydroxybutyryl-CoA dehydrogenase deficiency (OMIM number 300438); 2MBG, 2-short/branched chain acyl-CoA dehydrogenase deficiency (610006); 3MCC, 3-methylcrotonyl-CoA carboxylase deficiency (210200,210210); 3MGA, 3-methylglutaconyl-CoA hydratase deficiency (250950); ARG, argininemia (207800); ASA, argininosuccinic acidemia (207900); B12 def, vitamin B12 deficiency; BIOPT (Reg), disorders of biopterin regeneration (261630); BIOPT (BS), disorders of biopterin biosynthesis (261640); BKT, β-ketothiolase deficiency (203750); CACT, carnitine:acylcarnitine translocase deficiency (212138); Cbl, cobalamin (complementation group); CIT-I, citrullinemia type I (215700); CIT-II, citrullinemia type II (605814,603471); CPT-I, carnitine palmitoyltransferase Ia deficiency (255120); CPT-II, carnitine palmitoyltransferase II deficiency (255110); CPS, carbamylphosphate synthase deficiency (237300); CUD, carnitine uptake defect (212140); EE, ethylmalonic encephalopathy (602473); FIGLU, formiminoglutamic acidemia (229100); GA-II, glutaric acidemia type II (608053, 130410, 231675); GA-I, glutaric acidemia type I (231670); H-PHE, hyperphenylalaninemia (261600); HCY, homocystinuria (236200); het, heterozygote (carrier status); HMG, 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (300438); IBG, isobutyryl-CoA dehydrogenase deficiency (611283); IVA, isovaleryl-CoA dehydrogenase deficiency (243500); LCHAD, long-chain L-3-Hydroxy dehydrogenase deficiency (609016); M/SCHAD, medium/short-chain L-3-hydroxy acyl-CoA dehydrogenase def. (601609); MAL, malonyl-CoA decarboxylase deficiency (248360); (mat), maternal; MCAD, medium-chain acyl-CoA dehydrogenase deficiency (607008); MCD, holocarboxylase synthetase deficiency (253270); MCKAT, medium-chain ketoacyl-CoA thiolase deficiency (602199); MET, hypermethioninemias (250850); MSUD, maple syrup urine disease (248600); MTHFR, methylene tetrahydrofolate reductase deficiency (607093); MUT, methylmalonic acidemia (251000, 251100, 251110); NKHG, nonketotic hyperglycinemia (605899); OTC, ornithine transcarbamylase deficiency (300461); PA, propionic acidemia (606054); PC, pyruvate carboxylase deficiency (266150); PKU, phenylketonuria (261600); RED, 2,4-dienoyl-CoA reductase deficiency (222745); SCAD, short-chain acyl-CoA dehydrogenase deficiency (201470); TFP, trifunctional protein deficiency (609015); TYR-I, tyrosinemia type I (276700); TYR-II, tyrosinemia type II (276600); TYR-III, tyrosinemia type III (276710); TYR (trans), transient tyrosinemia; VLCAD, very long-chain acyl-CoA dehydrogenase deficiency (201475). Condition codes are according to Watson et al.¹