- Analytes
- MT-ATP6
MT-ATP6
Name: |
mitochondrially encoded ATP synthase membrane subunit 6
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Symbol: |
MT-ATP6
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Version of Orphanet: |
2023-06-22 14:14:43
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Synonyms: |
ATP6
ATPase-6
Su6m
mitochondrially encoded ATP synthase membrane subunit a
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XREF(s): | |
Created: |
13 May 2019 - 01:01
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Changed: |
22 Jun 2023 - 16:14
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- Familial infantile bilateral striatal necrosis
- Isolated ATP synthase deficiency
- Leber hereditary optic neuropathy
- MT-ATP6-related mitochondrial spastic paraplegia
- Mitochondrial DNA-associated Leigh syndrome
- NARP syndrome
- NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
- Periodic paralysis with later-onset distal motor neuropathy
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Leigh syndrome (mtDNA / 37 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments MT-ND1 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-ND2 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-ND3 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-ND4L 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-ND4 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-ND5 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-ND6 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-CO1 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-CO2 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-CO3 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-ATP8 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-ATP6 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-CYB 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TF 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TQ 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TW 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TL1 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TH 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TS1 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TS2 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TP 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TK 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TT 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TL2 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TV 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TE 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TI 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TM 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TN 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TA 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TC 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TG 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TR 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TY 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TD 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-RNR1 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-RNR2 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations -
Leigh/Narp syndrome (3 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments MT-ATP6 MT-ATP8 MT-ND5