Belgian Genetic Tests database- Diseases
- Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
| Name: |
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
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| Description: |
A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions.
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| ORPHAcode: |
70595
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| Synonyms: |
SANDO
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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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mitochondrial disease, nuclear based (343 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS2 100.00 0 No comment ABAT 100.00 0 No comment ABCB7 100.00 0 No comment ACAD9 100.00 0 No comment ACO2 100.00 0 No comment ADPRS 99.18 0 No comment AFG3L2 95.05 0 No comment AGK 100.00 0 No comment AIFM1 100.00 0 No comment ALDH1B1 100.00 0 No comment ANO10 100.00 0 No comment APTX 100.00 0 No comment ATAD3A 98.67 0 No comment ATAD3B 98.52 0 No comment ATAD3C 97.28 0 No comment ATL1 100.00 0 No comment ATL3 100.00 0 No comment ATP5F1A 100.00 0 No comment ATP5F1B 100.00 0 No comment ATP5F1C 100.00 0 No comment ATP5F1D 86.59 0 No comment ATP5F1E 100.00 0 No comment ATP5IF1 100.00 0 No comment ATP5MC1 100.00 0 No comment ATP5MC2 100.00 0 No comment ATP5MC3 100.00 0 No comment ATP5MK 100.00 0 No comment ATP5ME 100.00 0 No comment ATP5MF 100.00 0 No comment ATP5MG 100.00 0 No comment ATP5MGL 100.00 0 No comment ATP5PB 99.84 0 No comment ATP5PD 99.81 0 No comment ATP5PF 100.00 0 No comment ATP5PO 100.00 0 No comment ATPAF1 81.57 0 No comment ATPAF2 100.00 0 No comment BCS1L 100.00 0 No comment BOLA1 100.00 0 No comment BOLA2 100.00 0 No comment BOLA3 84.43 0 No comment MTRFR 100.00 0 No comment C19ORF12 100.00 0 No comment C1QBP 97.23 0 No comment CARS2 95.42 0 No comment CEP89 100.00 0 No comment CHCHD10 97.45 0 No comment CHKB 99.69 0 No comment CLPB 100.00 0 No comment CLPP 100.00 0 No comment COA1 100.00 0 No comment COA3 100.00 0 No comment COA5 100.00 0 No comment COA6 100.00 0 No comment COA7 100.00 0 No comment COA8 100.00 0 No comment COASY 100.00 0 No comment COQ2 97.15 0 No comment COQ4 100.00 0 No comment COQ6 100.00 0 No comment COQ7 100.00 0 No comment COQ8A 100.00 0 No comment COQ8B 90.08 0 No comment COQ9 99.99 0 No comment COX10 100.00 0 No comment COX14 100.00 0 No comment COX15 100.00 0 No comment COX20 98.72 0 No comment COX4I1 100.00 0 No comment COX4I2 100.00 0 No comment COX5A 97.33 0 No comment COX5B 100.00 0 No comment COX6A1 100.00 0 No comment COX6A2 100.00 0 No comment COX6B1 100.00 0 No comment COX6B2 100.00 0 No comment COX6C 100.00 0 No comment COX7A1 100.00 0 No comment COX7A2 100.00 0 No comment COX7A2L 100.00 0 No comment COX7B 99.88 0 No comment COX7B2 100.00 0 No comment COX7C 100.00 0 No comment COX8A 100.00 0 No comment COX8C 98.71 0 No comment CYC1 88.46 0 No comment CYCS 100.00 0 No comment DARS2 100.00 0 No comment DDHD1 98.94 0 No comment DES 100.00 0 No comment DGUOK 100.00 0 No comment DHTKD1 99.98 0 No comment DLAT 100.00 0 No comment DLD 100.00 0 No comment DLST 100.00 0 No comment DMAC2L 100.00 0 No comment DNA2 100.00 0 No comment DNAJC19 100.00 0 No comment DNAJC3 100.00 0 No comment DNM1L 100.00 0 No comment EARS2 100.00 0 No comment ECHS1 99.99 0 No comment ECSIT 100.00 0 No comment ELAC2 99.99 0 No comment ETHE1 99.88 0 No comment FARS2 100.00 0 No comment FASTKD2 100.00 0 No comment FBXL4 100.00 0 No comment FDX2 100.00 0 No comment FDXR 100.00 0 No comment FH 100.00 0 No comment FOXRED1 100.00 0 No comment FXN 89.89 0 No comment GARS1 99.53 0 No comment GATB 100.00 0 No comment GATC 100.00 0 No comment GATM 99.26 0 No comment GFER 97.55 0 No comment GFM1 100.00 0 No comment GFM2 100.00 0 No comment GLRX5 84.06 0 No comment GLUD1 99.45 0 No comment GTPBP3 100.00 0 No comment HARS2 100.00 0 No comment HCCS 100.00 0 No comment HIBCH 100.00 0 No comment HLCS 100.00 0 No comment HSD17B10 100.00 0 No comment HSPA9 100.00 0 No comment HSPD1 99.53 0 No comment HTRA2 100.00 0 No comment IARS2 100.00 0 No comment IBA57 87.89 0 No comment ISCA1 99.77 0 No comment ISCA2 100.00 0 No comment ISCU 99.39 0 No comment KARS1 100.00 0 No comment LACTB 91.87 0 No comment LARS2 100.00 0 No comment LIAS 100.00 0 No comment LIPT1 100.00 0 No comment LIPT2 94.78 0 No comment LONP1 99.83 0 No comment LRPPRC 99.14 0 No comment LYRM4 68.80 0 No comment LYRM7 100.00 0 No comment MARS2 100.00 0 No comment MCUR1 79.55 0 No comment MDH2 98.91 0 No comment MFF 100.00 0 No comment MFN2 100.00 0 No comment MGME1 100.00 0 No comment MICOS13 100.00 0 No comment MICU1 100.00 0 No comment MIEF2 100.00 0 No comment MMUT 100.00 0 No comment MPC1 100.00 0 No comment MPV17 100.00 0 No comment MRM2 99.91 0 No comment MRM3 100.00 0 No comment MRPL12 92.58 0 No comment MRPL3 100.00 0 No comment MRPL44 100.00 0 No comment MRPL57 100.00 0 No comment MRPS14 100.00 0 No comment MRPS16 100.00 0 No comment MRPS2 98.34 0 No comment MRPS22 100.00 0 No comment MRPS34 97.33 0 No comment MRPS7 100.00 0 No comment MRRF 100.00 0 No comment MSTO1 100.00 0 No comment MTFMT 99.11 0 No comment MTO1 95.75 0 No comment MTPAP 100.00 0 No comment NADK2 90.73 0 No comment NARS2 100.00 0 No comment NAXE 99.78 0 No comment NDUFA1 100.00 0 No comment NDUFA10 95.87 0 No comment NDUFA11 98.06 0 No comment NDUFA12 100.00 0 No comment NDUFA13 100.00 0 No comment NDUFA2 100.00 0 No comment NDUFA3 100.00 0 No comment NDUFA4 99.68 0 No comment NDUFA5 87.27 0 No comment NDUFA6 100.00 0 No comment NDUFA7 100.00 0 No comment NDUFA8 100.00 0 No comment NDUFA9 100.00 0 No comment NDUFAB1 100.00 0 No comment NDUFAF1 100.00 0 No comment NDUFAF2 100.00 0 No comment NDUFAF3 100.00 0 No comment NDUFAF4 100.00 0 No comment NDUFAF5 100.00 0 No comment NDUFAF6 93.73 0 No comment NDUFAF7 100.00 0 No comment NDUFB1 100.00 0 No comment NDUFB10 100.00 0 No comment NDUFB11 99.52 0 No comment NDUFB2 100.00 0 No comment NDUFB3 100.00 0 No comment NDUFB4 99.85 0 No comment NDUFB5 100.00 0 No comment NDUFB6 100.00 0 No comment NDUFB7 100.00 0 No comment NDUFB8 100.00 0 No comment NDUFB9 100.00 0 No comment NDUFC1 100.00 0 No comment NDUFC2 100.00 0 No comment NDUFS1 100.00 0 No comment NDUFS2 100.00 0 No comment NDUFS3 100.00 0 No comment NDUFS4 100.00 0 No comment NDUFS5 99.18 0 No comment NDUFS6 100.00 0 No comment NDUFS7 99.49 0 No comment NDUFS8 100.00 0 No comment NDUFV1 100.00 0 No comment NDUFV2 100.00 0 No comment NDUFV3 99.46 0 No comment NFS1 93.58 0 No comment NFU1 99.75 0 No comment NSUN3 100.00 0 No comment NUBPL 100.00 0 No comment OGDH 100.00 0 No comment MED12 100.00 0 No comment OPA3 100.00 0 No comment OXA1L 100.00 0 No comment PANK2 98.60 0 No comment PARS2 100.00 0 No comment PODXL 100.00 0 No comment PDHA1 98.17 0 No comment PDHB 100.00 0 No comment PDHX 99.87 0 No comment PDK1 99.19 0 No comment PDK2 100.00 0 No comment PDK3 99.76 0 No comment PDK4 100.00 0 No comment PDP1 100.00 0 No comment PDSS1 86.24 0 No comment PDSS2 100.00 0 No comment PET100 100.00 0 No comment PET117 100.00 0 No comment PIGA 100.00 0 No comment PINK1 92.83 0 No comment PISD 100.00 0 No comment PITRM1 100.00 0 No comment PMPCA 100.00 0 No comment PNPT1 100.00 0 No comment POLG 100.00 0 No comment POLG2 100.00 0 No comment POLR3A 100.00 0 No comment PPA2 99.97 0 No comment PTRH2 100.00 0 No comment PUS1 99.08 0 No comment PYCR1 100.00 0 No comment PYCR2 100.00 0 No comment QRSL1 100.00 0 No comment RARS2 100.00 0 No comment REEP1 97.37 0 No comment RMND1 100.00 0 No comment RNASEH1 100.00 0 No comment RRM2B 100.00 0 No comment SARS2 100.00 0 No comment SCO1 100.00 0 No comment SCO2 100.00 0 No comment SDHA 98.02 0 No comment SDHAF1 96.03 0 No comment SDHB 100.00 0 No comment SDHD 80.22 0 No comment SERAC1 100.00 0 No comment SFXN4 100.00 0 No comment SLC19A2 99.50 0 No comment SLC19A3 100.00 0 No comment SLC25A1 93.77 0 No comment SLC25A12 100.00 0 No comment SLC25A13 99.94 0 No comment SLC25A19 100.00 0 No comment SLC25A22 100.00 0 No comment SLC25A24 99.82 0 No comment SLC25A3 100.00 0 No comment SLC25A32 100.00 0 No comment SLC25A4 99.09 0 No comment SLC25A46 100.00 0 No comment SLC25A5 98.36 0 No comment SLC25A6 100.00 0 No comment SLC39A8 97.00 0 No comment SPART 100.00 0 No comment SPAST 100.00 0 No comment AFG2A 100.00 0 No comment SPG7 96.56 0 No comment SQSTM1 93.68 0 No comment STXBP1 100.00 0 No comment SUCLA2 100.00 0 No comment SUCLG1 95.74 0 No comment SUCLG2 99.95 0 No comment SURF1 87.74 0 No comment TACO1 99.90 0 No comment TANGO2 100.00 0 No comment TARS2 100.00 0 No comment WWTR1 99.81 0 No comment THG1L 100.00 0 No comment TIMM44 99.93 0 No comment TIMM50 100.00 0 No comment TIMM8A 100.00 0 No comment TIMMDC1 100.00 0 No comment TK2 95.90 0 No comment TMEM126A 100.00 0 No comment TMEM126B 100.00 0 No comment TMEM70 100.00 0 No comment TPK1 100.00 0 No comment TRIAP1 100.00 0 No comment TRIT1 100.00 0 No comment TRMT10C 100.00 0 No comment TRMT5 100.00 0 No comment TRMU 100.00 0 No comment TRNT1 100.00 0 No comment TSFM 93.22 0 No comment TTC19 85.12 0 No comment TUFM 100.00 0 No comment TWNK 100.00 0 No comment TXN2 100.00 0 No comment TYMP 91.72 0 No comment UBA52 100.00 0 No comment UQCC1 100.00 0 No comment UQCC2 100.00 0 No comment UQCC3 100.00 0 No comment UQCR10 100.00 0 No comment UQCR11 100.00 0 No comment UQCRB 100.00 0 No comment UQCRC1 99.82 0 No comment UQCRC2 100.00 0 No comment UQCRFS1 98.87 0 No comment UQCRH 100.00 0 No comment UQCRQ 100.00 0 No comment VARS2 100.00 0 No comment VPS13D 100.00 0 No comment WARS2 100.00 0 No comment YARS2 100.00 0 No comment YME1L1 100.00 0 No comment