MELAS | Belgian Genetic Tests database

Disease Export to PDF
Name:	MELAS
Description:	A rare neurometabolic genetic disorder which is progressive and multisystemic due to mitochondrial dysfunction and that is characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes.
ORPHAcode:	550
Synonyms:	Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
XREF(s):	Orphanet MeSH MedDRA ICD-10 OMIM
Analyte(s):	MT-TQ MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TL1 MT-TW MT-TH MT-TS1 MT-TS2 MT-TF
Created:	13 May 2019 - 01:02
Changed:	22 Jun 2023 - 16:14

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Details

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