Mitochondrial/Metabolic Oligonucleotide Array CGH Analysis

Home , AARS2, BCS1L, COQ2, Fumarase, MRPL15, MRPL19

MitoMet® oligo aCGH Disorder List

One Baylor Plaza, Nab 2015, Houston, Texas 77030 One Baylor Plaza, Nab 2015, Houston, Texas713-798-6555 77030 • 713-798-6555 • 1-800-411-gene • 1-800-411-gene (4363) (4363) • www.bcmgeneticlabs.org B a y l o r C ollege of Medicine

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Medical Genetic Laboratories Genetic Medical Medicine of College Baylor

he MitoMet® array contains Indications for Testing: muscle and liver are recommended. 1. MitoMet® aCGH analysis is Analysis on MitoMet® array will 60,000 oligonucleotide recommended for autosomal detect heteroplasmic mtDNA probes targeted to both mitochondrial recessive cases with one identified deletions. The analysis will also point mutation or apparent reveal approximate breakpoints and nuclear genes involved in homozygote. and copy number. mitochondrial and metabolic related 2. For autosomal dominant cases, Limitation of Testing: diseases. Approximately 3200 probes MitoMet® aCGH analysis of samples This analysis will not detect point negative on full gene sequence mutations or small deletion/duplication cover the entire 16.6 kb mitochondrial will detect heterozygous intragenic mutations. For mtDNA, the deletion of genome in the forward direction. In deletion or duplication. less than 200 bp and for nuclear genes deletion less than 300 kb may not be addition, the current array includes an 3. MitoMet® aCGH analysis is detected. Heteroplasmy of less than average exon coverage of about 6/exon recommended for cases where 15% may not be detected. PCR fails to amplify regions for oligo probes targeted to approximately sequence analysis. Testing Methodology: The data are analyzed using quantitative 4. MitoMet® aCGH analysis is imaging methods and analytical recommended for cases where software to assist in identifying each intragenic or multigenic compound targeted-DNA sequence as loss of heterozygous deletions or copy number (deletion in nuclear gene duplications are suspected. and depletion in mtDNA), gain of copy number (duplication in nuclear gene or 5. Quick screening for mitochondrial over-amplification in mtDNA) or normal DNA deletions and depletions. copy number. The relevant tissues such as

350 genes that are involved in mtDNA Specimen Requirements: Blood: EDTA (purple-top) tubes: Adult: 14 cc; Child/Infant: 6 cc biogenesis, maintenance of mitochondrial deoxynucleotide pools, mitochondrial Turnaround Time: transcription and translation factors, Turnaround times are available on our web site: www.bcmgeneticlabs.org respiratory chain complex assembly E-mail: [email protected] • Phone: (713) 798-5849 • Fax: (713) 798-4187 Baylor College of Medicine Medical Genetic Laboratories and complex subunits, urea cycle Shipping Information disorders, fatty acid oxidation, amino Forms: acid metabolism, creatine pathway, Mitochondrial Requisition - Mitochondrial Diagnostic Checklist is included progressive familial intrahepatic Test Code: cholestasis, newborn screening diseases, Index: 3500 plus many more. This array detects Known Familial Mutation: 3501 Prenatal: 3502 intragenic nuclear gene deletions/ duplications larger than 1 kb and mtDNA deletions larger than 200 bp. MitoMet® oligo aCGH V2.8 1 Disorder List Baylor College of Medicine Medical Genetic Laboratories

Disorder Gene Disorder GENE COORDINATES OMIM# OMIM* AARS2 *612035 Chr. 6: 44,374,441-44,389,041 Progressive Familial Intrahepatic Cholestasis 2 (PFIC2) #601847 ABCB11 *603201 Chr. 2: 169,487,694-169,596,079 Progressive Familial Intrahepatic Cholestasis 3 (PFIC3) #602347 ABCB4 *171060 Chr. 7: 86,869,302-86,942,991 X-Linked Sideroblastic Anemia and Spinocerebellar Ataxia #301310 ABCB7 *300135 Chr. X: 74,189,834-74,292,857 Long Chain Acyl-CoA Dehydrogenase Dificiency (LCAD) #201460 ACADL *609576 Chr. 2: 210,760,963-210,798,405 Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) #201450 ACADM *607008 Chr. 1: 75,962,982-76,001,763 Short Chain Acyl-CoA Dehydrogenase Deficiency (SCAD) #201470 ACADS *606885 Chr. 12: 119,648,025-119,662,193 Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency #610006 ACADSB *600301 Chr. 10: 124,758,419-124,807,796 (SBCAD) Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) #201475 ACADVL *609575 Chr. 17: 7,063,877-7,069,308 Mitochondrial Adenylate Kinase-2 AK2 *103020 Chr. 1: 33,246,173-33,275,079 Hereditary Fructose Intolerance #229600 ALDOB *612724 Chr. 9: 103,223,480-103,237,926 Ataxia with Oculomotor Apraxia 1 (AOA1) #208920 APTX *606350 Chr. 9: 32,962,609-32,991,626 Arginase Deficiency #207800 ARG1 *608313 Chr. 6: 131,936,058-131,947,161 Argininosuccinic Aciduria #207900 ASL *608310 Chr. 7: 65,178,249-65,195,375 Citrullinemia Type 1 #215700 ASS1 *603470 Chr. 9: 132,310,170-132,366,482 ATP12A *182360 Chr. 13: 24,152,695-24,183,918 Progressive Familial Intrahepatic Cholestasis 1 (PFIC1) #211600 ATP8B1 *602397 Chr. 18: 53,464,656-53,550,037 Mitochondrial Respiratory Chain Deficiency, Complex V #604273 ATPAF2 *608918 Chr. 17: 17,862,059-17,883,205 3-Methylglutaconic Aciduria (MGA) Type I #250950 AUH *600529 Chr. 9: 93,015,926-93,163,996 Maple Syrup Urine Disease, Type 1a #248600 BCKDHA *608348 Chr. 19: 46,595,544-46,622,749 Gracile Syndrome #603358 BCS1L *603647 Chr. 2: 219,232,676-219,236,410 Leigh Syndrome (nuclear genes) #256000 BCS1L *603647 Chr. 2: 219,232,676-219,236,410 Mitochondrial Respiratory Chain Complex III Deficiency, #124000 BCS1L *603647 Chr. 2: 219,232,676-219,236,410 BCS1L Related Biotinidase Deficiency #253260 BTD *609019 Chr. 3: 15,618,259-15,662,328 Mitochondrial Complex I Deficiency #252010 C6orf66 *611776 Chr. 6: 97,445,612-97,452,476 C11orf79 Hereditary Paragangliomas 2 #601650 *613019 Chr. 11: 60,954,173-60,970,801 (SDH5) C12orf65 Chr. 12: 122,283,416-122,308,459 C14orf156 *610211 Chr. 14: 77,244,188-77,253,690 C18orf22 Chr. 18: 75,895,346-75,907,373 CARS2 *612800 Chr. 13: 110,091,760-110,156,464 Homocystinuria, Cystathionine Beta-Synthase Deficiency CBS *236200 Chr. 21: 43,346,370-43,369,541 CCDC44 Leigh Syndrome (nuclear genes) #256000 *612958 Chr. 17: 59,031,973-59,039,456 (TACO1) Cardiomyopathy-associated protein 5 CMYA5 *612193 Chr. 5: 79,021,415-79,131,804 Coenzyme Q10 Deficiency #607426 COQ2 *609825 Chr. 4: 84,404,003-84,425,091 Coenzyme Q10 Deficiency (CABC1) #607426 COQ8 *606980 Chr. 1: 225,194,561-225,241,869 Spinocerebellar Ataxia (CABC1) #612016 COQ8 *606980 Chr. 1: 225,194,561-225,241,869 Coenzyme Q10 Deficiency #607426 COQ9 *612837 Chr. 16: 56,038,903-56,052,679 COX4I1 *123864 Chr. 16: 84,390,697-84,398,109 Exocrine Pancreatic Insufficiency #612714 COX4I2 *607976 Chr. 20: 29,689,352-29,696,461

One Baylor Plaza, Nab 2015, Houston, Texas 77030 • 713-798-6555 • 1-800-411-gene (4363) • www.bcmgeneticlabs.org MitoMet® oligo aCGH V2.8 2 Disorder List Baylor College of Medicine Medical Genetic Laboratories

Disorder Gene Disorder GENE COORDINATES OMIM# OMIM* COX5A *603773 Chr. 15: 72,999,672-73,017,438 COX5B *123866 Chr. 2: 97,628,953-97,631,086 COX6A1 *602072 Chr. 12: 119,360,287-119,362,915 COX6A2 *602009 Chr. 16: 31,346,556-31,347,222 Mitochondrial Respiratory Chain Complex IV #220110 COX6B1 *124089 Chr. 19: 40,830,995-40,841,523 Deficiency (nuclear genes) COX6B2 Chr. 19: 60,552,888-60,557,994 COX6C *124090 Chr. 8: 100,959,548-100,975,071 COX7A1 *123995 Chr. 19: 41,333,664-41,335,611 COX7A2 *123996 Chr. 6: 76,004,223-76,010,245 COX7A2L *605771 Chr. 2: 42,431,146-42,441,860 COX7B *603792 Chr. X: 77,041,627-77,047,537 COX7B2 *609811 Chr. 4: 46,431,606-46,606,009 COX7C *603774 Chr. 5: 85,949,540-85,952,337 COX8A *123870 Chr. 11: 63,498,655-63,500,590 (COX8) COX8C Chr. 14: 92,883,290-92,884,453 Leigh Syndrome (nuclear genes) #256000 COX10 *602125 Chr. 17: 13,913,444-14,052,712 Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear #220110 COX10 *602125 Chr. 17: 13,913,444-14,052,712 genes) COX11 *603648 Chr. 17: 50,384,266-50,401,053 Leigh Syndrome (nuclear genes) #256000 COX15 *603646 Chr. 10: 101,461,596-101,481,890 Mitochondrial Respiratory Chain Complex IV Deficiency #220110 COX15 *603646 Chr. 10: 101,461,596-101,481,890 (nuclear genes) COX17 *604813 Chr. 3: 120,871,062-120,878,933 COX18 *610428 Chr. 4: 74,139,280-74,154,336 COX19 *610429 Chr. 7: 971,012-981,761 Carbamoyl-phosphate Synthetase I Deficiency #237300 CPS1 *608307 Chr. 2: 211,129,583-211,252,074 Carnitine Palmitoyltransferase IA Deficiency #255120 CPT1A *600528 Chr. 11: 68,278,666-68,365,850 CPT1B *601987 Chr. 22: 49,354,156-49,363,744 Carnitine Palmitoyltransferase II Deficiency, Late Onset #255110 CPT2 *600650 Chr. 1: 53,434,689-53,452,455 Carnitine Palmitoyltransferase II Deficiency, Infantile #600649 CPT2 *600650 Chr. 1: 53,434,689-53,452,455 Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal #608836 CPT2 *600650 Chr. 1: 53,434,689-53,452,455 Thrombocytopenia; autosomal dominant, 4 #612004 CYCS *123970 Chr. 7: 25,124,802-25,131,480 DAP3 *602074 Chr. 1: 153,925,506-153,974,941 (MRPS29) Leukoencephalopathy with Brainstem and Spinal Cord Involvement #611105 DARS2 *610956 Chr. 1: 172,060,581-172,094,305 and Lactate Elevation Maple Syrup Urine Disease, Type II #248600 DBT *248610 Chr. 1: 100,425,072-100,487,997 Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form #251880 DGUOK *601465 Chr. 2: 74,007,461-74,039,596 Maple Syrup Urine Disease, Type III #248600 DLD *238331 Chr. 7: 107,318,822-107,348,879 Leigh Syndrome (nuclear genes) #256000 DLD *238331 Chr. 7: 107,318,822-107,348,879 DNA2 *601810 Chr. 10: 69,843,827-69,901,885

One Baylor Plaza, Nab 2015, Houston, Texas 77030 • 713-798-6555 • 1-800-411-gene (4363) • www.bcmgeneticlabs.org MitoMet® oligo aCGH V2.8 3 Disorder List Baylor College of Medicine Medical Genetic Laboratories

Disorder Gene Disorder GENE COORDINATES OMIM# OMIM* 3-Methylglutaconic Aciduria (MGA) Type V #610198 DNAJC19 *608977 Chr. 3: 182,184,200-182,190,224 EARS2 *612799 Chr. 16: 23,440,836-23,476,197

Mitochondrial Neurogastrointestinal Encephalomyopathy ECGF1 #603041 *131222 Chr. 22: 49,311,047-49,315,321 (MNGIE) Disease (TYMP)

Stargardt disease 3 (STGD3) #600110 ELOVL4 *605512 Chr. 6: 80,681,255-80,713,941 Multiple Acyl-CoA Dehydrogenase Deficiency #231680 ETFA *608053 Chr. 15: 74,295,646-74,390,865 Multiple Acyl-CoA Dehydrogenase Deficiency #231680 ETFB *130410 Chr. 19: 56,540,222-56,561,484 Multiple Acyl-CoA Dehydrogenase Deficiency #231680 ETFDH *231675 Chr. 4: 159,812,727-159,849,292 Ethylmalonic Encephalopathy #602473 ETHE1 *608451 Chr. 19: 48,702,712-48,723,236 Tyrosinemia, Type I FAH *276700 Chr. 15: 78,232,396-78,265,737 Mitochondrial Respiratory Chain Complex IV Deficiency #220110 FASTKD2 *612322 Chr. 2: 207,338,577-207,365,478 (nuclear genes) Fumarase Deficiency #606812 FH *136850 Chr. 1: 239,727,526-239,749,677 Multiple Cutaneous and Uterine Leiomyomata #150800 FH *136850 Chr. 1: 239,727,526-239,749,677 Leiomyomatosis and Renal Cell Cancer #605839 FH *136850 Chr. 1: 239,727,526-239,749,677 G6PC Glycogen Storage Disease Type I 232200 Chr. 17: 38,306,341-38,318,912 (GSD1a) Glycogen Storage Disease Type II (Pompe Disease) #232300 GAA *606800 Chr. 17: 75,689,950-75,708,273 GABPA *600609 Chr. 21: 26,028,752-26,066,642 GABPB1 *600610 Chr. 15: 48,356,681-48,434,687 Galactosemia #230400 GALT *606999 Chr. 9: 34,636,635-34,640,571 Guanidinoacetate Methyltransferase Deficiency #612736 GAMT *601240 Chr. 19: 1,348,089-1,352,552 Arginine:Glycine Amidinotransferase Deficiency #612718 GATM *602360 Chr. 15: 43,440,616-43,458,272 GCK-Related Hyperinsulinism #602485 GCK *138079 Chr. 7: 44,150,395-44,195,563 GCK-Related Permanent Neonatal Diabetes Mellitus #606176 GCK *138079 Chr. 7: 44,150,395-44,195,563 Maturity-Onset Diabetes of the young, Type II (MODY2) #125851 GCK *138079 Chr. 7: 44,150,395-44,195,563 GCKR *600842 Chr. 2: 27,573,210-27,600,052 GCSH-Related Glycine Encephalopathy #605899 GCSH *238330 Chr. 16: 79,673,430-79,687,481 GCST-Related Glycine Encephalopathy #605899 GCST (AMT) *238310 Chr. 3: 49,429,216-49,435,016 Combined Oxidative Phosphorylation Deficiency 1 (COXPD1) #609060 GFM1 *606639 Chr. 3: 159,845,011-159,893,055 GFM2 *606544 Chr. 5: 74,052,790-74,098,798 Glycerol Kinase Deficiency #307030 GK *300474 Chr. X: 30,581,397-30,658,645 GLDC-Related Glycine Encephalopathy #605899 GLDC *238300 Chr. 9: 6,522,469-6,635,692 GPD1 *138420 Chr. 12: 48,784,068-48,791,358 Gylcogen Storage Disease, Type 0, muscle #611556 GYS1 *138570 Chr. 19: 54,163,195-54,188,361 Glycogen Storage Disease, Type 0, liver #240600 GYS2 *138571 Chr. 12: 21,580,390-21,649,048 Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency #609016 HADHA *600890 Chr. 2: 26,267,009-26,321,098 (LCHAD) Mitochondrial Trifunctional Protein (MTP) Deficiency #609015 HADHA *600890 Chr. 2: 26,267,009-26,321,098 Mitochondrial Trifunctional Protein (MTP) Deficiency #609015 HADHB *143450 Chr. 2: 26,321,120-26,366,836 HARS2 *600783 Chr. 5: 140,051,202-140,059,073 Holocarboxylase Synthetase Deficiency #253270 HLCS *609018 Chr. 21: 37,045,066-37,284,373

One Baylor Plaza, Nab 2015, Houston, Texas 77030 • 713-798-6555 • 1-800-411-gene (4363) • www.bcmgeneticlabs.org MitoMet® oligo aCGH V2.8 4 Disorder List Baylor College of Medicine Medical Genetic Laboratories

Disorder Gene Disorder GENE COORDINATES OMIM# OMIM* IARS2 *612801 Chr. 1: 218,334,067-218,388,003 Myopathy with Exercise Intolerance, Swedish type #255125 ISCU *611911 Chr. 12: 107,480,529-107,487,272 JAG1-Related Alagille Syndrome #118450 JAG1 *601920 Chr. 20: 10,566,334-10,602,636 KARS *601421 Chr. 16: 74,219,131-74,239,078 LARS2 *604544 Chr. 3: 45,405,072-45,565,332 Leigh Syndrome, French-Canadian Type (LSFC) #220111 LRPPRC *607544 Chr. 2: 43,968,391-44,076,648 MARS2 *609728 Chr. 2: 198,278,332-198,281,358 3-Methylcrotonyl CoA Carboxylase 1 Deficiency (MCCA) #210200 MCCC1 *609010 Chr. 3: 184,215,702-184,300,059 3-Methylcrotonyl CoA Carboxylase 2 Deficiency (MCCB) #210210 MCCC2 *609014 Chr. 5: 70,918,910-70,988,981 MECP2-Rett Syndrome #312750 MECP2 *300005 Chr. X: 152,940,218-153,016,406 MECP2 Mutations - Neonatal Severe Encephalopathy #300673 MECP2 *300005 Chr. X: 152,940,218-153,016,406 MECP2 Duplication Syndrome #300260 MECP2 *300005 Chr. X: 152,940,218-153,016,406 Multiple Endocrine Neoplasia Type I #131100 MEN1 131100 Chr. 11: 64,327,572-64,335,342 Hyperparathyroidism 1 #145000 MEN1 131100 Chr. 11: 64,327,572-64,335,342 MFN1 *608506 Chr. 3: 180,548,174-180,593,700 Charcot-Marie-Tooth disease, type 2A2; CMT2A2 #609260 MFN2 *608507 Chr. 1: 11,962,956-11,996,152 Hereditary Motorand Sensory Neuropathy Type VI #601152 MFN2 *608507 Chr. 1: 11,962,956-11,996,152 MMAA-Related Methylmalonic Acidemia, cb1A Type #251100 MMAA *607481 Chr. 4: 146,759,990-146,799,293 MMAB-Related Methylmalonic Acidemia, cb1B Type #251110 MMAB *607568 Chr. 12: 108,475,908-108,495,741 Methylmalonic Aciduria and Homocystinuria, cblC Type #277400 MMACHC *609831 Chr. 1: 45,738,312-45,749,326 MMADHC Methylmalonic Aciduria and Homocystinuria, cblD Type #277410 *611935 Chr. 2: 150,134,399-150,152,486 (C2ORF25) Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form #251880 MPV17 *137960 Chr. 2: 27,385,866-27,399,473 MRP63 *611997 Chr. 13: 20,648,372-20,651,203 MRPL1 *611821 Chr. 4: 79,003,016-79,092,961 MRPL2 *611822 Chr. 6: 43,129,745-43,135,220 MRPL3 *607118 Chr. 3: 132,663,736-132,704,519 MRPL4 *611823 Chr. 19: 10,223,640-10,231,719 MRPL9 *611824 Chr. 1: 149,998,749-150,002,664 MRPL10 *611825 Chr. 17: 43,255,638-43,263,902 MRPL11 *611826 Chr. 11: 65,959,882-65,962,880 MRPL12 *602375 Chr. 17: 77,280,812-77,284,951 MRPL13 *610200 Chr. 8: 121,477,264-121,526,828 MRPL14 *611827 Chr. 6: 44,189,353-44,203,169 MRPL15 *611828 Chr. 8: 55,210,334-55,223,009 MRPL16 *611829 Chr. 11: 59,330,190-59,334,921 MRPL17 *611830 Chr. 11: 6,659,456-6,661,150 MRPL18 *611831 Chr. 6: 160,131,488-160,139,450 MRPL19 *611832 Chr. 2: 75,727,417-75,742,842 MRPL21 *611834 Chr. 11: 68,415,323-68,427,879 MRPL22 *611835 Chr. 5: 154,300,856-154,326,721

One Baylor Plaza, Nab 2015, Houston, Texas 77030 • 713-798-6555 • 1-800-411-gene (4363) • www.bcmgeneticlabs.org MitoMet® oligo aCGH V2.8 5 Disorder List Baylor College of Medicine Medical Genetic Laboratories

Disorder Gene Disorder GENE COORDINATES OMIM# OMIM* MRPL23 *600789 Chr. 11: 1,925,163-1,934,401 MRPL24 *611836 Chr. 1: 154,973,718-154,977,547 MRPL27 *611837 Chr. 17: 45,800,230-45,805,561 MRPL28 *604853 Chr. 16: 357,397-360,541 MRPL30 *611838 Chr. 2: 99,164,010-99,180,521 MRPL32 *611839 Chr. 7: 42,938,464-42,943,976 MRPL33 *610059 Chr. 2: 27,848,088-27,856,112 MRPL34 *611840 Chr. 19: 17,277,477-17,278,652 MRPL35 *611841 Chr. 2: 86,280,091-86,293,480 MRPL36 *611842 Chr. 5: 1,851,499-1,852,946 MRPL37 *611843 Chr. 1: 54,438,428-54,456,638 MRPL38 *611844 Chr. 17: 71,406,319-71,413,069 MRPL39 *611845 Chr. 21: 25,879,839-25,901,672 MRPL40 *605089 Chr. 22: 17,800,036-17,803,594 (NLVCF) MRPL41 *611846 Chr. 9: 139,566,165-139,566,827 MRPL42 *611847 Chr. 12: 92,385,401-92,420,562 MRPL43 *611848 Chr. 10: 102,727,569-102,737,262 MRPL44 *611849 Chr. 2: 224,530,378-224,540,668 MRPL45 *611850 Chr. 17: 33,706,517-33,732,627 MRPL46 *611851 Chr. 15: 86,803,713-86,811,623 MRPL47 *611852 Chr. 3: 180,788,951-180,805,128 MRPL48 *611853 Chr. 11: 73,176,572-73,253,297 MRPL49 *606866 Chr. 11: 64,646,304-64,651,417 MRPL50 *611854 Chr. 9: 103,192,070-103,200,717 MRPL51 *611855 Chr. 12: 6,471,579-6,472,718 MRPL52 *611856 Chr. 14: 22,368,936-22,374,079 MRPL53 *611857 Chr. 2: 74,552,621-74,553,435 MRPL54 *611858 Chr. 19: 3,713,665-3,718,562 MRPL55 *611859 Chr. 1: 226,361,004-226,363,627 MRPS2 *611971 Chr. 9: 137,532,375-137,536,340 MRPS5 *611972 Chr. 2: 95,116,680-95,151,481 MRPS6 *611973 Chr. 21: 34,367,687-34,437,198 MRPS7 *611974 Chr. 17: 70,769,385-70,774,049 MRPS9 *611975 Chr. 2: 105,020,938-105,082,849 MRPS10 *611976 Chr. 6: 42,282,517-42,293,581 MRPS11 *611977 Chr. 15: 86,811,688-86,822,499 MRPS12 *603021 Chr. 19: 44,113,188-44,115,497 MRPS14 *611978 Chr. 1: 173,249,751-173,259,184 MRPS15 *611979 Chr. 1: 36,693,960-36,702,556 Combined Oxidative Phosphorylation Deficiency 2 (COXPD2) #610498 MRPS16 *609204 Chr. 10: 74,678,609-74,682,457

One Baylor Plaza, Nab 2015, Houston, Texas 77030 • 713-798-6555 • 1-800-411-gene (4363) • www.bcmgeneticlabs.org MitoMet® oligo aCGH V2.8 6 Disorder List Baylor College of Medicine Medical Genetic Laboratories

Disorder Gene Disorder GENE COORDINATES OMIM# OMIM* MRPS17 *611980 Chr. 7: 55,987,105-55,990,523 MRPS18A *611981 Chr. 6: 43,747,020-43,763,506 MRPS18C *611983 Chr. 4: 84,596,196-84,601,900 MRPS21 *611984 Chr. 1: 148,532,893-148,547,405 Combined Oxidative Phosphorylation Deficiency 5 (COXPD5) #611719 MRPS22 *605810 Chr. 3: 140,545,551-140,558,575 MRPS23 *611985 Chr. 17: 53,271,847-53,282,407 MRPS24 *611986 Chr. 7: 43,872,682-43,875,670 MRPS25 *611987 Chr. 3: 15,065,024-15,081,820 MRPS26 *611988 Chr. 20: 2,974,675-2,976,893 MRPS27 *611989 Chr. 5: 71,551,112-71,651,811 MRPS28 *611990 Chr. 8: 80,993,653-81,105,061 MRPS30 *611991 Chr. 5: 44,844,784-44,851,371 MRPS31 *611992 Chr. 13: 40,201,440-40,243,309 MRPS33 *611993 Chr. 7: 140,348,665-140,361,218 MRPS34 *611994 Chr. 16: 1,761,898-1,763,141 MRPS35 *611995 Chr. 12: 27,754,996-27,800,494 MRPS36 *611996 Chr. 5: 68,549,329-68,561,741 MRRF *604602 Chr. 9: 124,066,756-124,125,564 MTERFD3 Chr. 12: 105,895,199-105,905,059 MTIF2 *603766 Chr. 2: 55,317,262-55,349,888 MTIF3 Chr. 13: 26,907,785-26,922,325 MTRF1 *604601 Chr. 13: 40,688,516-40,735,713 MTRF1L Chr. 6: 153,351,363-153,365,553 MUT-Related Methylmalonic Acidemia (MMA) #251000 MUT *609058 Chr. 6: 49,506,958-49,538,990 Methylcobalamin Deficiency, cblG Type #250940 MTR *156570 Chr. 1: 235,025,341-235,130,585 Homocystinuria-megaloblastic anemia, cblE Type #236270 MTRR *602568 Chr. 5: 7,922,217-7,954,233 Gaucher Disease Type 1 #230800 MTX1 *600605 Chr. 1: 153,445,114-153,450,238 N-Acetylglutamate Synthase Deficiency #237310 NAGS *608300 Chr. 17: 39,437,558-39,441,959 NARS2 *612803 Chr. 11: 77,824,895-77,963,474 Mitochondrial Respiratory Chain Complex I Deficiency #252010 NDUFA1 *300078 Chr. X: 118,889,762-118,894,624 (nuclear genes) Leigh Syndrome (nuclear genes) #256000 NDUFA2 *602137 Chr. 5: 140,005,143-140,007,424 Mitochondrial Respiratory Chain Complex I Deficiency #252010 NDUFA2 *602137 Chr. 5: 140,005,143-140,007,424 (nuclear genes) NDUFA3 *603832 Chr. 19: 59,297,975-59,302,078 NDUFA4 *603833 Chr. 7: 10,939,609-10,946,305 NDUFA5 *601677 Chr. 7: 122,968,319-122,985,194 NDUFA6 *602138 Chr. 22: 40,811,477-40,816,834 NDUFA7 *602139 Chr. 19: 8,282,234-8,292,280 NDUFA8 *603359 Chr. 9: 123,946,161-123,961,919 NDUFA9 *603834 Chr. 12: 4,628,544-4,666,658

One Baylor Plaza, Nab 2015, Houston, Texas 77030 • 713-798-6555 • 1-800-411-gene (4363) • www.bcmgeneticlabs.org MitoMet® oligo aCGH V2.8 7 Disorder List Baylor College of Medicine Medical Genetic Laboratories

Disorder Gene Disorder GENE COORDINATES OMIM# OMIM* NDUFA10 *603835 Chr. 2: 240,548,831-240,613,471 Mitochondrial Respiratory Chain Complex I Deficiency (nuclear #252010 NDUFA11 *612638 Chr. 19: 5,845,686-5,855,025 genes) NDUFA12 Chr. 12: 93,889,240-93,921,642 Hurthle cell carcinoma of the thyroid #607464 NDUFA13 *609435 Chr. 19: 19,487,799-19,500,007 NDUFAF1 *606934 Chr. 15: 39,466,845-39,481,934 Mitochondrial Respiratory Chain Complex I Deficiency NDUFAF2 #252010 *609653 Chr. 5: 60,276,791-60,484,609 (nuclear genes) (NDUFA12L) NFE2L2 *600492 Chr. 2: 177,803,759-177,837,550 (NRF2) NDUFA4L2 Chr. 12: 55,914,961-55,920,794 NDUFB1 *603837 Chr. 14: 91,652,223-91,657,906 NDUFB2 *603838 Chr. 7: 140,042,979-140,052,911 NDUFB3 *603839 Chr. 2: 201,644,759-201,658,716 NDUFB5 *603841 Chr. 3: 180,805,269-180,824,981 NDUFB6 *603322 Chr. 9: 32,543,523-32,563,182 NDUFB7 *603842 Chr. 19: 14,537,892-14,543,886 NDUFB8 *602140 Chr. 10: 102,273,487-102,279,626 NDUFB9 *601445 Chr. 8: 125,620,524-125,631,407 NDUFB10 *603843 Chr. 16: 1,949,520-1,951,977 NDUFB11 *300403 Chr. X: 46,886,563-46,889,381 NDUFC1 *603844 Chr. 4: 140,430,542-140,436,440 NDUFC2 *603845 Chr. 11: 77,457,051-77,468,579 Leigh Syndrome (nuclear genes) #256000 NDUFS1 *157655 Chr. 2: 206,696,080-206,732,432 Mitochondrial Respiratory Chain Complex I Deficiency #252010 NDUFS1 *157655 Chr. 2: 206,696,080-206,732,432 (nuclear genes) Mitochondrial Respiratory Chain Complex I Deficiency #252010 NDUFS2 *602985 Chr. 1: 159,435,729-159,450,806 (nuclear genes) Leigh Syndrome (nuclear genes) #256000 NDUFS3 *603846 Chr. 11: 47,557,208-47,562,689 Mitochondrial Respiratory Chain Complex I Deficiency #252010 NDUFS3 *603846 Chr. 11: 47,557,208-47,562,689 (nuclear genes) Leigh Syndrome (nuclear genes) #256000 NDUFS4 *602694 Chr. 5: 52,892,242-53,014,922 Mitochondrial Respiratory Chain Complex I Deficiency #252010 NDUFS4 *602694 Chr. 5: 52,892,242-53,014,922 (nuclear genes) NDUFS5 *603847 Chr. 1: 39,264,593-39,272,873 Mitochondrial Respiratory Chain Complex I Deficiency #252010 NDUFS6 *603848 Chr. 5: 1,854,509-1,869,161 (nuclear genes) Leigh Syndrome (nuclear genes) #256000 NDUFS7 *601825 Chr. 19: 1,334,906-1,346,583 Mitochondrial Respiratory Chain Complex I Deficiency #252010 NDUFS7 *601825 Chr. 19: 1,334,906-1,346,583 (nuclear genes) Leigh Syndrome (nuclear genes) #256000 NDUFS8 *602141 Chr. 11: 67,554,670-67,560,686 Mitochondrial Respiratory Chain Complex I Deficiency #252010 NDUFS8 *602141 Chr. 11: 67,554,670-67,560,686 (nuclear genes) Leigh Syndrome (nuclear genes) #256000 NDUFV1 *161015 Chr. 11: 67,130,983-67,136,581 Mitochondrial Respiratory Chain Complex I Deficiency #252010 NDUFV1 *161015 Chr. 11: 67,130,983-67,136,581 (nuclear genes)

One Baylor Plaza, Nab 2015, Houston, Texas 77030 • 713-798-6555 • 1-800-411-gene (4363) • www.bcmgeneticlabs.org MitoMet® oligo aCGH V2.8 8 Disorder List Baylor College of Medicine Medical Genetic Laboratories

Disorder Gene Disorder GENE COORDINATES OMIM# OMIM* Mitochondrial Respiratory Chain Complex I Deficiency #252010 NDUFV2 *600532 Chr. 18: 9,092,725-9,124,336 (nuclear genes) NDUFV3 *602184 Chr. 21: 43,186,447-43,202,841 Maturity-Onset Diabetes of the Young Type VI (MODY6) #606394 NEUROD1 *601724 Chr. 2: 182,249,440-182,253,626 Alagille Syndrome 2 (ALGS2) #610205 NOTCH2 *600275 Chr. 1: 120,255,701-120,413,799 NRF1 *600879 Chr. 7: 129,038,791-129,184,156 NT5C *191720 Chr. 17: 70,637,919-70,639,472 NT5M *605292 Chr. 17: 17,147,374-17,191,702 Ornithine Aminotransferase Deficiency OAT *258870 Chr. 10: 126,075,862-126,097,450 Oculocutaneous Albinism Type IA, Tyrosinase Negative #203100 OCA1A (TYR) *606933 Chr. 11: 88,550,688-88,668,574 Alpha-ketoglutarate Dehydrogenase Deficiency #203740 OGDH *613022 Chr. 7: 44,612,696-44,715,193 Optic Atrophy, Type 1 (OPA1) #165500 OPA1 *605290 Chr. 3: 194,793,806-194,898,009 3-Methylglutaconic Aciduria Type III #258501 OPA3 *606580 Chr. 19: 50,722,867-50,779,962 Ornithine Transcarbamylase Deficiency #311250 OTC *300461 Chr. X: 38,096,680-38,165,650 OXA1L *601066 Chr. 14: 22,305,571-22,310,832 Phenylalanine Hydorxylase Deficiency #261600 PAH *612349 Chr. 12: 101,756,234-101,835,511 PARS2 *612036 Chr. 1: 54,995,161-55,002,775 Pyruvate Carboxylase Deficiency #266150 PC *608786 Chr. 11: 66,372,573-66,482,423 Propionic Acidemia, Alpha Subunit #606054 PCCA *232000 Chr. 13: 99,539,338-99,980,687 Propionic Acidemia, Beta Subunit #606054 PCCB *232050 Chr. 3: 137,451,857-137,531,701 Pyruvate Dehydrogenase E1-Alpha Deficiency #312170 PDHA1 *300502 Chr. X: 19,271,997-19,287,886 Leigh Syndrome, X-Linked #308930 PDHA1 *300502 Chr. X: 19,271,997-19,287,886 Pyruvate Dehydrogenase E1-Beta Deficiency PDHB *179060 Chr. 3: 58,388,398-58,394,594 Pyruvate Degydrogenase E3-Binding Protien Deficiency #245349 PDHX *608769 Chr. 11: 34,894,695-34,974,092 Coenzyme Q10 Deficiency #607426 PDSS1 *607429 Chr. 10: 27,026,601-27,075,730 Coenzyme Q10 Deficiency #607426 PDSS2 *610564 Chr. 6: 107,580,456-107,887,448 Progressive External Opthalmoplegia with mtDNA Deletions, PEO1 #609286 *606075 Chr.10: 102,737,302-102,744,148 Autosomal Dominant 3 (C10ORF2) Spinocerebellar Ataxia Neuropathy, Dysarthria, and PEO1 #607459 *606075 Chr.10: 102,737,302-102,744,148 Ophthalmoparesis; SANDO (C10ORF2) PEO1 Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form #251880 *606075 Chr.10: 102,737,302-102,744,148 (C10ORF2) PET112L *603645 Chr. 4: 152,811,462-152,901,609 PGC *169740 Chr. 6: 41,812,428-41,823,099 PMPCB *603131 Chr. 7: 102,725,109-102,742,368 Progressive External Opthalmoplegia with mtDNA Deletions, #157640 POLG *174763 Chr. 15: 87,660,577-87,679,030 Autosomal Dominant 1 (adPEO) Alpers Syndrome #203700 POLG *174763 Chr. 15: 87,660,577-87,679,030 Spinocerebellar Ataxia Neuropathy, Dysarthria, and #607459 POLG *174763 Chr. 15: 87,660,577-87,679,030 Ophthalmoparesis; SANDO Progressive External Opthalmoplegia with mtDNA Deletions, #610131 POLG2 *604983 Chr. 17: 59,904,366-59,923,631 Autosomal Dominant 4 (adPEO4) Familial Partial Lipodystrophy, Type 3 (FPLD3) #604367 PPARG *601487 Chr. 3: 12,304,349-12,450,855 Mitochondrial Myopathy and Siderblastic Anemia (MLASA) #600462 PUS1 *608109 Chr. 12: 130,979,742-130,994,355

One Baylor Plaza, Nab 2015, Houston, Texas 77030 • 713-798-6555 • 1-800-411-gene (4363) • www.bcmgeneticlabs.org MitoMet® oligo aCGH V2.8 9 Disorder List Baylor College of Medicine Medical Genetic Laboratories

Disorder Gene Disorder GENE COORDINATES OMIM# OMIM*

Glycogen Storage Disease Type V; McArdle Disease #232600 PYGM *608455 Chr. 11: 64,270,606-64,284,763

Pontocerebellar Hypoplasia Type 6 #611523 RARS2 *611524 Chr. 6: 88,280,824-88,356,424 Multiple Endocrine Neoplasia Type IIA #171400 RET 164761 Chr. 10: 42,892,523-42,945,799 Multiple Endocrine Neoplasia Type IIB #162300 RET 164761 Chr. 10: 42,892,523-42,945,799 Hirschsprung Disease #142623 RET 164761 Chr. 10: 42,892,523-42,945,799 Familial Medullary Thyroid Carcinoma #155240 RET 164761 Chr. 10: 42,892,523-42,945,799 Mitochondrial DNA Depletion, Encephalomyopathic Form with #612075 RRM2B *604712 Chr. 8: 103,285,908-103,320,522 Renal Tubulopathy SARS2 *612804 Chr. 19: 44,097,751-44,113,376 Mitochondrial Complex IV Deficiency #220110 SCO1 *603644 Chr. 17: 10,524,380-10,541,570 Mitochondrial Complex IV Deficiency #220110 SCO2 *604272 Chr. 22: 49,308,865-49,310,900 Fatal Infantile Cardioencephalomyopathy #604377 SCO2 *604272 Chr. 22: 49,308,865-49,310,900 Leigh Syndrome (nuclear genes) #256000 SDHA *600857 Chr. 5: 271,439-309,794 Mitochondrial Respiratory Chain Complex II Deficiency #252011 SDHA *600857 Chr. 5: 271,439-309,794 SDHB-Related Hereditary Paraganglioma-Pheochromocytoma #115310 SDHB *185470 Chr. 1: 17,217,817-17,253,252 Syndrome SDHB-Related Cowden-like Syndrome #612359 SDHB *185470 Chr. 1: 17,217,817-17,253,252 Mitochondrial Respiratory Chain Complex II Deficiency #252011 SDHB *185470 Chr. 1: 17,217,817-17,253,252 SDHC-Related Hereditary Paraganglioma-Pheochromocytoma #605373 SDHC *602413 Chr. 1: 159,550,790-159,601,154 Syndrome Mitochondrial Respiratory Chain Complex II Deficiency #252011 SDHC *602413 Chr. 1: 159,550,790-159,601,154 SDHD-Related Hereditary Paraganglioma-Pheochromocytoma #168000 SDHD *602690 Chr. 11: 111,462,832-111,471,727 Syndrome SDHD-Related Cowden-like Syndrome #612359 SDHD *602690 Chr. 11: 111,462,832-111,471,727 Mitochondrial Respiratory Chain Complex II Deficiency #252011 SDHD *602690 Chr. 11: 111,462,832-111,471,727 SIRT3 *604481 Chr. 11: 205,031-226,362 SLC22A5 Carnitine Deficiency, Systemic #212140 *603377 Chr 5: 131,733,343-131,759,204 (OCTN2) Adult Onset Citrullinemia Deficiency, Type 2 #603471 SLC25A13 *603859 Chr. 7: 95,587,469-95,789,341 Neonatal Onset Citrullinemia Deficiency, Type 2 #605814 SLC25A13 *603859 Chr. 7: 95,587,469-95,789,341 Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) SLC25A15 #238970 *603861 Chr. 13: 40,261,597-40,282,246 Syndrome (HHH) SLC25A19 Amish Lethal Microcephaly #607196 *606521 Chr. 17: 70,780,669-70,797,109 (DNC) SLC25A20 Carnitine-Acylcarnitine Translocase Deficiency *212138 Chr. 3: 48,869,370-48,911,333 (CACT) SLC25A3 Mitochondrial Phosphate Carrier Deficiency #610773 *600370 Chr. 12: 97,511,534-97,519,906 (PHC) Progressive External Ophthalmoplegia with mtDNA Deletions, SLC25A4 #609283 *103220 Chr. 4: 186,301,392-186,305,418 Autosomal Dominant 2 (ad-PEO2) (ANT1) SLC25A28 *609767 Chr. 10: 101,360,272-101,370,158 (MRS4) Pendred Syndrome/DFNB4 #274600 SLC26A4 *605646 Chr. 7: 107,088,316-107,145,490 Enlarged Vestivular Aqueduct Syndrome #600791 SLC26A4 *605646 Chr. 7: 107,088,316-107,145,490

One Baylor Plaza, Nab 2015, Houston, Texas 77030 • 713-798-6555 • 1-800-411-gene (4363) • www.bcmgeneticlabs.org MitoMet® oligo aCGH V2.8 10 Disorder List Baylor College of Medicine Medical Genetic Laboratories

Disorder Gene Disorder GENE COORDINATES OMIM# OMIM* SLC6A8 X-Linked Creatine Transporter Deficiency #300352 *300036 Chr. X: 152,606,586-152,615,234 (CRTR) SOD2 *147460 Chr. 6: 160,020,141-160,034,343 Leber Congenital Amaurosis 3 #604232 SPATA7 609868 Chr. 14: 87,921,796-87,974,519 Juvenile Autosomal Recessive form of Retinitis Pigmentosa #268000 SPATA7 609868 Chr. 14: 87,921,796-87,974,519 Spastic Paraplegia 7 #607259 SPG7 *602783 Chr. 16: 88,102,306-88,151,674 Paget Disease of Bone #602080 SQSTM1 *601530 Chr. 5: 179,180,503-179,197,681 SSBP1 *600439 Chr. 7: 141,084,645-141,096,726 Atypical MycobacterialInfection, Familial Disseminated #209950 STAT1 600555 Chr. 2: 191,542,121-191,587,181 Hyper-IgE Recurrent Infection Syndrome #147060 STAT3 *102582 Chr. 17: 37,718,869-37,794,039 Mitochondrial DNA Depletion Syndrome, Myopathic Form, #612073 SUCLA2 *603921 Chr. 13: 47,414,793-47,473,463 with Methylmalonic Aciduria Fatal Infantile Lactic Acidosis #245400 SUCLG1 *611224 Chr. 2: 84,504,165-84,540,097 SUCLG2 *603922 Chr. 3: 67,507,835-67,787,728 Leigh Syndrome (nuclear genes) #256000 SURF1 *185620 Chr. 9: 135,208,487-135,213,182 Mitochondrial Complex IV Deficiency #220110 SURF1 *185620 Chr. 9: 135,208,487-135,213,182 Sulfite oxidase Deficiency #272300 SUOX *606887 Chr. 12: 54,677,310-54,685,572 TARS2 *612805 Chr. 1: 148,726,517-148,746,369 3-Methylglutaconic Aciduria type II, Barth Syndrome #302060 TAZ *300394 Chr. X: 153,293,071-153,303,259 Endocardial Fibroelastosis #305300 TAZ *300394 Chr. X: 153,293,071-153,303,259 Familial Isolated Noncompaction of Left Ventricular Myocardium #300183 TAZ *300394 Chr. X: 153,293,071-153,303,259 TAZ-Related Dilated Cardiomyopathy #300069 TAZ *300394 Chr. X: 153,293,071-153,303,259 Maturity-Onset Diabetes of the Young Type III (MODY3) #600496 TCF1 (HNF1A) *142410 Chr. 12: 119,900,932-119,924,695 Maturity-Onset Diabetes of the Young Type V (MODY5) #137920 TCF2 (HNF1B) *189907 Chr. 17: 33,120,548-33,179,209 Mitochondrial Transcription Factor A TFAM *600438 Chr. 10: 59,815,182-59,825,903 Mitochondrial Transcription Factor B1 TFB1M *607033 Chr. 6: 155,620,488-155,677,311 TFB2M *607055 Chr. 1: 244,770,495-244,796,186 Mitochondrial Transcription FactorCP2-like 1 TFCP2L1 *609785 Chr. 2: 121,695,003-121,759,248 Deafness-Dystonia-Optic Neuropathy (DDP1) Syndrome #304700 TIMM8A *300356 Chr. X: 100,487,308-100,490,365 TIMM10 *602251 Chr. 11: 57,052,514-57,054,808 TIMM13 *607383 Chr. 19: 2,376,630-2,378,875 (TIM13) TIMM17A *605057 Chr. 1: 200,191,271-200,206,410 TIMM17B *300249 Chr. X: 48,635,676-48,640,370 TIMM23 *605034 Chr. 10: 51,262,096-51,293,344 TIMM44 *605058 Chr. 19: 7,897,604-7,914,538 Mitochondrial DNA Depletion Syndrome, Myopathic Form #609560 TK2 *188250 Chr. 16: 65,100,853-65,141,816 Encephalocardiomyopathy, Neonatal, Mitochondrial, due to ATP #604273 TMEM70 *612418 Chr. 8: 75,050,984-75,057,565 Synthasedeficiency Osteolysis, Familial Expansile #174810 TNFRSF11A *603499 Chr. 18: 58,143,528-58,204,482 Paget Disease of Bone #602080 TNFRSF11A *603499 Chr. 18: 58,143,528-58,204,482 Osteopetrosis, Autosomal Recessive 7 #612301 TNFRSF11A *603499 Chr. 18: 58,143,528-58,204,482

One Baylor Plaza, Nab 2015, Houston, Texas 77030 • 713-798-6555 • 1-800-411-gene (4363) • www.bcmgeneticlabs.org MitoMet® oligo aCGH V2.8 11 Disorder List Baylor College of Medicine Medical Genetic Laboratories

Disorder Gene Disorder GENE COORDINATES OMIM# OMIM* Paget Disease, Juvenile #239000 TNFRSF11B *602643 Chr. 8: 120,004,978-120,033,564 TOMM5 Chr. 9: 37,578,417-37,582,594 (C9orf105) TOMM6 (C6orf49 or *611389 Chr. 6: 41,863,378-41,865,614 OBTP) TOMM7 *607980 Chr. 7: 22,819,118-22,828,989 (TOM7) TOMM20 *601848 Chr. 1: 233,339,283-233,358,754 TOMM22 *607046 Chr. 22: 37,407,900-37,410,709 TOMM40 *608061 Chr. 19: 50,086,334-50,098,775 TOMM70A *606081 Chr. 3: 101,564,999-101,602,915 Combined Oxidative Phosphorylation Deficiency-3 (COXPD3) #610505 TSFM *604723 Chr. 12: 56,462,826-56,476,784 Combined Oxidative Phosphorylation Deficiency-4 (COXPD4) #610678 TUFM *602389 Chr. 16: 28,761,615-28,765,144 Angelman Syndrome #105830 UBE3A *601623 Chr. 15: 23,133,489-23,235,221 Mitochondrial Respiratory Chain Complex III Deficiency #124000 UQCRQ *612080 Chr. 5: 132,230,218-132,232,435 VARS2 *612802 Chr. 6: 30,989,961-31,002,212 Inclusion Body Myopathy with Early-Onset Paget Disease #167320 VCP *601023 Chr. 9: 35,046,904-35,062,598 and Frontotemporal Dementia VDAC Deficiency, Anion Channel 1 VDAC1 *604492 Chr. 5: 133,335,542-133,368,432 VDAC Deficiency, Anion Channel 2 VDAC2 *193245 Chr. 10: 76,640,569-76,661,208 VDAC Deficiency, Anion Channel 3 VDAC3 *610029 Chr. 8: 42,368,547-42,382,568 WARS2 *604733 Chr. 1: 119,375,362-119,484,818 YARS2 *610957 Chr. 12: 32,790,746-32,800,141

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Mitochondrial/Metabolic Oligonucleotide Array CGH Analysis

MitoMet® oligo aCGH Disorder List

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