MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
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Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Reference
: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.
Gender
: The gender of the reported individual.
All options:
? = Unknown
F = Female
M = Male
rF = Raised as female
rM = Raised as male
Geographic origin
: The geographic origin of the individual (country and/or region); Belgium = individual's origin is Belgium, (France) = reported by laboratory in France, individual's origin not sure.
Ethnic origin
: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).
Population
: Additional information on the individual's population.
Consanguinity
: Indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
? = Unknown
no = Non-consanguineous parents
yes = Consanguineous parents
Age of death
: The age at which the individual deceased, if known and applicable.
35y = 35 years
04y08m = 4 years and 8 months
18y? = around 18 years
>54y = still alive at 55
? = unknown
Cause of death
: The cause of the individual's death, if known and applicable.
Remarks
: Remarks about the individual.
Variants in genes
: The individual has variants for this gene.
Panel size
: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.
4 entries on 1 page. Showing entries 1 - 4.
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Legend
Individual ID
Reference
Gender
Geographic origin
Ethnic origin
Population
Consanguinity
Age of death
Cause of death
Remarks
Disease
Phenotype details
Genes screened
Variants in genes
Variants
Panel size
Owner
00000001
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This is a placeholder individual (patient) entry for enabling quick variant submission without finishing all details about an individual. Please create true individual entries as soon as possible, ideally before creating screening and variant entries.
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MTCP1
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1
Lishuang Shen
00000008
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This is a placeholder individual (patient) entry for enabling quick variant submission without finishing all details about an individual. Please create true individual entries as soon as possible, ideally before creating screening and variant entries.
220110
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AARS2, AASS, ABAT, ABCA9, ABCB10, ABCB6, ABCB7, ABCD1, ABHD5, ACAD8, ACAD9, ACADL, ACADM, ACADSB, ACADVL, ACAT1, ACSF3, ACSL4, ADCK3, AFG3L2, AGXT, AIFM2, AK2, AKR1D1, ALAS2, ALDH18A1, ALDH4A1, ALDH5A1, ALDH6A1, ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, AMACR, AMT, APEX2, APTX, ARG1, ARMS2, ASL, ASS1, ATL1, ATM, ATP5B, ATP5C1, ATP5D, ATP5E, ATP5F1, ATP5G1, ATP5G2, ATP5G3, ATP5H, ATP5I, ATP5J, ATP5J2, ATP5L, ATP5O, ATP5S, ATP7B, ATPAF1, ATPIF1, ATXN10, ATXN7, AUH, B4GALT1, BCKDHA, BCKDHB, BRAF, BTD
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Lishuang Shen
00000012
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F
Germany?
Germany?
Germany?
?
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A 51-year-old woman. The phenotype was characterised by a multisytemic disease presentation with myopathy, spinal ataxia, deafness, cataract and cognitive deficit. These symptoms do not fit with a distinct mitochondrial syndrome such as MELAS or MERRF, but affection of muscle and central nerve system together with inner ear is highly indicative of a mitochondrial aetiology.
MELAS SYNDROME, MERRF
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MT-TP
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Lishuang Shen
00000013
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M
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AARS2
CACNA1F
1
1
Xiaowu Gai
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