Belgian Genetic Tests database- Diseases
- Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
| Name: |
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
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| Description: |
An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.
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| ORPHAcode: |
329314
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| Synonyms: |
Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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Neuromuscular disorders (166 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACADVL 0.00 0 No value for column 2 ACTA1 0.00 0 No value for column 2 AGRN 0.00 0 No value for column 2 ALDOA 0.00 0 No value for column 2 ALG14 0.00 0 No value for column 2 ALG2 99.94 0 No comment ALS2 100.00 0 No comment ANG 100.00 0 No comment ANO5 100.00 0 No comment ASAH1 99.94 0 No comment ATP7A 100.00 0 No comment ATXN2 89.10 0 No comment B3GALNT2 85.88 0 No comment B4GAT1 100.00 0 No comment BAG3 100.00 0 No comment BICD2 100.00 0 No comment BIN1 100.00 0 No comment BSCL2 100.00 0 No comment C9ORF72 100.00 0 No comment CAV3 100.00 0 No comment CFL2 99.75 0 No comment CHAT 100.00 0 No comment CHKB 99.69 0 No comment CHRNA1 100.00 0 No comment CHRNB1 100.00 0 No comment CHRND 100.00 0 No comment CHRNE 100.00 0 No comment CHRNG 100.00 0 No comment COL6A1 100.00 0 No comment COL6A2 100.00 0 No comment COL6A3 100.00 0 No comment COLQ 100.00 0 No comment CPT2 98.71 0 No comment CRPPA 95.75 0 No comment CRYAB 100.00 0 No comment DAG1 100.00 0 No comment DAO 100.00 0 No comment DCTN1 100.00 0 No comment DES 100.00 0 No comment DGUOK 100.00 0 No comment DMD 100.00 0 No comment DNAJB2 100.00 0 No comment DNAJB6 99.34 0 No comment DNM2 99.95 0 No comment DOK7 98.77 0 No comment DOLK 100.00 0 No comment DPAGT1 100.00 0 No comment DPM1 100.00 0 No comment DPM2 100.00 0 No comment DPM3 100.00 0 No comment DYNC1H1 100.00 0 No comment DYSF 100.00 0 No comment ECEL1 95.92 0 No comment EMD 99.84 0 No comment ENO3 100.00 0 No comment ETFA 100.00 0 No comment ETFB 100.00 0 No comment ETFDH 100.00 0 No comment EXOSC3 100.00 0 No comment FBLN5 100.00 0 No comment FBXO38 100.00 0 No comment FDX2 100.00 0 No comment CFH 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNC 100.00 0 No comment FUS 100.00 0 No comment GAA 100.00 0 No comment GARS1 99.53 0 No comment GFPT1 99.98 0 No comment GLE1 100.00 0 No comment GMPPB 100.00 0 No comment GNE 100.00 0 No comment GRN 100.00 0 No comment HADHA 100.00 0 No comment HADHB 100.00 0 No comment HARS1 100.00 0 No comment HEXB 99.82 0 No comment HNRNPA1 99.61 0 No comment HNRNPA2B1 100.00 0 No comment HSPB1 100.00 0 No comment HSPB3 100.00 0 No comment HSPB8 100.00 0 No comment IGHMBP2 100.00 0 No comment ISCU 99.39 0 No comment KBTBD13 97.91 0 No comment KLHL40 100.00 0 No comment KLHL9 100.00 0 No comment LAMA2 100.00 0 No comment LAMB2 100.00 0 No comment LARGE1 100.00 0 No comment LAS1L 100.00 0 No comment LDB3 100.00 0 No comment LMNA 99.93 0 No comment LPIN1 100.00 0 No comment CORIN 98.90 0 No comment MATR3 100.00 0 No comment MEGF10 100.00 0 No comment MTM1 100.00 0 No comment MUSK 100.00 0 No comment MYBPC3 100.00 0 No comment MYH7B 100.00 0 No comment MYH3 100.00 0 No comment MYH7 100.00 0 No comment MYH8 100.00 0 No comment MYOT 100.00 0 No comment NEB 99.99 0 No comment NEFH 84.73 0 No comment OPTN 100.00 0 No comment PABPN1 91.84 0 No comment PFKM 100.00 0 No comment PFN1 100.00 0 No comment PGAM2 100.00 0 No comment PGK1 100.00 0 No comment PGM1 100.00 0 No comment PHKA1 100.00 0 No comment PHKB 100.00 0 No comment PLEC 99.82 0 No comment PLEKHG5 99.10 0 No comment POLG 100.00 0 No comment POMGNT1 100.00 0 No comment POMGNT2 100.00 0 No comment POMK 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.90 0 No comment PREPL 100.00 0 No comment PYGM 100.00 0 No comment QDPR 99.04 0 No comment RAPSN 100.00 0 No comment REEP1 97.37 0 No comment RXYLT1 99.84 0 No comment RYR1 98.38 0 No comment SCN4A 100.00 0 No comment SELENON 84.04 0 No comment SETX 100.00 0 No comment SIGMAR1 96.60 0 No comment SIL1 100.00 0 No comment SLC18A3 100.00 0 No comment SLC52A2 100.00 0 No comment SLC52A3 100.00 0 No comment SLC5A7 100.00 0 No comment SMN1 96.55 0 No comment SNAP25 100.00 0 No comment SOD1 100.00 0 No comment SQSTM1 93.68 0 No comment SYT2 100.00 0 No comment TAF15 100.00 0 No comment TARDBP 100.00 0 No comment TFG 100.00 0 No comment TIA1 100.00 0 No comment TNNI2 100.00 0 No comment TNNT1 98.58 0 No comment TNNT3 100.00 0 No comment TNPO3 100.00 0 No comment TPM2 100.00 0 No comment TPM3 99.55 0 No comment TRPV4 100.00 0 No comment TSEN54 94.23 0 No comment TTN 100.00 0 No comment UBA1 100.00 0 No comment UBQLN2 99.88 0 No comment UNC13A 99.87 0 No comment VAPB 100.00 0 No comment VCP 98.45 0 No comment VEGFA 98.73 0 No comment VRK1 100.00 0 No comment -
mtDNA depletion syndrome (6 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments DGUOK TK2 MPV17 RRM2B TYMP TWNK