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CanVaS - A Greek Cancer Patient Genetic Variation Resource
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Disease #00211
Official abbreviation
Schw
Name
Schwannoma
OMIM ID
-
Inheritance
-
Individuals reported having this disease
5
Phenotype entries for this disease
7
Associated with 0 genes
-
Associated tissues
-
Disease features
-
Remarks
-
Individuals
Legend
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.
Geographic origin
: The second geographic origin of the individual (when parents are from different regions) (country and/or region); Belgium = individual's origin is Belgium, (France) = reported by laboratory in France, individual's origin not sure.
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
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.
5 entries on 1 page. Showing entries 1 - 5.
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Legend
Individual ID
Reference
Gender
Geographic origin
Geographic origin
Population
Consanguinity
Remarks
Disease
Phenotype details
Genes screened
Variants in genes
Variants
Panel size
Owner
00020774
-
F
Agioi Pantes, Phocis
Koniakos, Phocis
Greek
no
-
ColPol, NF, RCC, Schw
-
-
FANCL, MSH6, NBN, PRF1, PRKAR1A, RB1, SLX4, TP53
10
1
Despoina Kalfakakou
00020790
-
M
Heraklion, Crete
-
Greek
no
-
Schw
-
-
BAP1, BLM, FANCC, MLH1, MSH6, MUTYH, NF2, PTCH1, RB1, XPA
11
1
Despoina Kalfakakou
00020877
-
F
Polistafilo, Preveza
Preveza
Greek
no
-
F, Schw
-
-
ATM, BRCA2, CDH1, EGFR, ERCC2, FANCD2, FANCE, FLCN, MET, MSH6, NF1, PRKAR1A, TSC2
15
1
Despoina Kalfakakou
00020893
-
F
Zakynthos
Syros
Greek
no
-
CAL, Schw
-
NF2
APC, BRCA2, EPCAM, EXT2, FANCA, FANCI, MSH2, NF1, NF2, NSD1, RET
13
3
Despoina Kalfakakou
00020898
-
M
Volod
Kastoria
Greek
no
-
MNGM, Schw
-
-
CHEK2, DIS3L2, MLH1, NF2, PTCH1, RECQL4, WRN, XPC
9
1
Despoina Kalfakakou
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