Screening #0000000004

Individual ID 00000008
Date -
Template DNA
Technique SEQ-NG-I
Tissue -
Description NuclearMitome – Comprehensive Sequence Analysis of 448 Nuclear Mitochondrial Genes

http://www.transgenomic.com/labs/neurology/nuclearmitome

Technical Details
Methods and Limitations

The Transgenomic NuclearMitome test is a comprehensive gene panel for variants in 448 nuclear genes important for mitochondrial function. Solution-based hybrid capture of the targeted genes coupled to next-generation sequencing on the Illumina® Genome Analyzer platform was used to identify DNA variants. All variants in dominant genes and all homozygous or compound heterozygous variants in recessive genes were confirmed by Sanger sequencing. Large deletions and duplications cannot be effectively characterized by this method. In addition, some regions of targeted genes cannot be effectively amplified and sequenced as a result of technical limitations of the assay. This report includes any detected variants categorized as deleterious or predicted deleterious mutations and variants of unknown significance. Benign variants are not reported. Rare sequence variants, regions of GC-rich structure or repetitive sequences may interfere with analysis. These results should be interpreted in the context of family history, clinical findings, and other laboratory data as appropriate. Interpretation and classification of variants are subject to change in light of new evidence.
Variants found? Not yet submitted
Owner name Lishuang Shen


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
AARS2 alanyl-tRNA synthetase 2, mitochondrial 6 p21.1 3 11 8 2013-11-13 COXPD8
AASS aminoadipate-semialdehyde synthase 7 q31.3 1 0 0 N/A -
ABAT 4-aminobutyrate aminotransferase 16 p13.2 3 0 0 N/A -
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7 X q13.3 5 0 0 N/A -
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1 X q28 1 0 0 N/A -
ABHD5 abhydrolase domain containing 5 3 p21.33 1 0 0 N/A -
ACAD8 acyl-CoA dehydrogenase family, member 8 11 q25 7 0 0 N/A -
ACAD9 acyl-CoA dehydrogenase family, member 9 3 q21.3 2 67 60 N/A 611126
ACADL acyl-CoA dehydrogenase, long chain 2 q34 2 22 21 N/A -
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain 1 p31 2 173 161 N/A ACADMD
ACADSB acyl-CoA dehydrogenase, short/branched chain 10 q25-q26 1 0 0 N/A -
ACADVL acyl-CoA dehydrogenase, very long chain 17 p13.1 4 219 181 N/A 201460, ACADVLD
ACAT1 acetyl-CoA acetyltransferase 1 11 q22.3 1 91 81 N/A 203750
ACSF3 acyl-CoA synthetase family member 3 16 q24.3 6 0 0 N/A -
ACSL4 acyl-CoA synthetase long-chain family member 4 X q22.3-q23 2 0 0 N/A -
ADCK3 aarF domain containing kinase 3 1 q42.11 8 50 42 N/A COQ10D4
AFG3L2 AFG3-like AAA ATPase 2 18 p11.21 1 12 12 N/A SCA28
AGXT alanine-glyoxylate aminotransferase 2 q37.3 1 0 0 N/A -
AIFM2 apoptosis-inducing factor, mitochondrion-associated, 2 10 q22.2 7 0 0 N/A -
AK2 adenylate kinase 2 1 p35.1 5 30 23 N/A 267500
AKR1D1 aldo-keto reductase family 1, member D1 7 q32-q33 3 0 0 N/A -
ALAS2 aminolevulinate, delta-, synthase 2 X p11.21 3 0 0 N/A -
ALDH18A1 aldehyde dehydrogenase 18 family, member A1 10 q24.3-q24.6 4 0 0 N/A -
ALDH4A1 aldehyde dehydrogenase 4 family, member A1 1 p36 3 0 0 N/A -
ALDH5A1 aldehyde dehydrogenase 5 family, member A1 6 p22 2 0 0 N/A -
ALDH6A1 aldehyde dehydrogenase 6 family, member A1 14 q24 4 0 0 N/A -
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase 16 p13.3 1 0 0 N/A -
ALG12 ALG12, alpha-1,6-mannosyltransferase 22 q13.33 1 0 0 N/A -
ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase 9 q31.1 2 0 0 N/A -
ALG3 ALG3, alpha-1,3- mannosyltransferase 3 q27.3 4 0 0 N/A -
ALG6 ALG6, alpha-1,3-glucosyltransferase 1 p31.3 1 0 0 N/A -
ALG8 ALG8, alpha-1,3-glucosyltransferase 11 q14.1 2 0 0 N/A -
ALG9 ALG9, alpha-1,2-mannosyltransferase 11 q23 4 0 0 N/A -
AMACR alpha-methylacyl-CoA racemase 5 p13.2 3 1 1 N/A -
AMT aminomethyltransferase 3 p21.2-p21.1 5 66 66 N/A 605899 GCE
APEX2 APEX nuclease (apurinic/apyrimidinic endonuclease) 2 X p11.23 2 0 0 N/A -
APTX aprataxin 9 p13.3 12 0 0 N/A -
ARG1 arginase 1 6 q23 2 0 0 N/A -
ARMS2 age-related maculopathy susceptibility 2 10 q26.13 1 0 0 N/A -
ASL argininosuccinate lyase 7 q11.21 4 0 0 N/A -
ASS1 argininosuccinate synthase 1 9 q34.1 2 15 15 N/A -
ATL1 atlastin GTPase 1 14 q21.3 3 0 0 N/A -
ATM ataxia telangiectasia mutated 11 q22-q23 5 0 0 N/A -
ATP5B ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide 12 p13.3 1 0 0 N/A -
ATP5C1 ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 10 p14 2 0 0 N/A -
ATP5D ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit 19 p13.3 2 1 1 N/A -
ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit 20 q13.3 1 2 1 N/A 614053
ATP5F1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 1 p13.2 2 0 0 N/A -
ATP5G1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) 17 q21.32 2 0 0 N/A -
ATP5G2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) 12 q13.13 2 0 0 N/A -
ATP5G3 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9) 2 q31.1 3 0 0 N/A -
ATP5H ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d 17 q25 2 0 0 N/A -
ATP5I ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E 4 p16.3 2 0 0 N/A -
ATP5J ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6 21 q21.1 5 0 0 N/A -
ATP5J2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 7 q22.1 4 0 0 N/A -
ATP5L ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G 11 q23.3 2 0 0 N/A -
ATP5O ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit 21 q22 1 0 0 N/A -
ATP5S ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B) 14 q21.3 10 0 0 N/A -
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 16 0 0 N/A -
ATPAF1 ATP synthase mitochondrial F1 complex assembly factor 1 1 p33-p32.3 4 0 0 N/A -
ATPIF1 ATPase inhibitory factor 1 1 p35.3 3 0 0 N/A -
ATXN10 ataxin 10 22 q13 2 0 0 N/A -
ATXN7 ataxin 7 3 p21.1-p12 1 0 0 N/A -
AUH AU RNA binding protein/enoyl-CoA hydratase 9 q22 9 33 29 N/A MGCA1
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 9 p13 2 0 0 N/A -
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide 19 q13.1-q13.2 2 0 0 N/A -
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide 6 q14.1 2 0 0 N/A -
BRAF v-raf murine sarcoma viral oncogene homolog B 7 q34 5 0 0 N/A -
BTD biotinidase 3 p25 5 0 0 N/A -



Variants found

Stop! No entries found!