Disease #00226

Official abbreviation	NF
Name	Neurofibromas
OMIM ID	-
Inheritance	-
Individuals reported having this disease	14
Phenotype entries for this disease	14
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-

Individuals

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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.

14 entries on 1 page. Showing entries 1 - 14.

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Individual ID	Reference	Gender	Geographic origin	Geographic origin	Population	Consanguinity	Remarks	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00020620	-	F	Arnissa, Edessa	Serres	Greek	no	-	ColPol, HMGM, MNGM, NF, TRC	-	-	APC, ATM, ERCC4, MUTYH, RAD51D, SDHD, TSC2, WRN	10	1	Despoina Kalfakakou
00020734	-	F	Kozani	-	Greek	no	-	CAL, GIST, NF, Pheo	-	-	BAP1, ERCC4, FANCE, KIT, MLH1, MUTYH, NF1, PTCH1, SDHB, SUFU	11	1	Despoina Kalfakakou
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
00020783	-	M	Orchomenus, Boeotia	Domokos, Phthiotis	Greek	no	-	CAL, NF	-	-	ATM, FANCD2, FANCI, HNF1A, PTEN, RECQL4, WRN, XPC	11	1	Despoina Kalfakakou
00020798	-	M	-	-	Greek	no	-	CAL, NF, SRCM	-	-	CEP57, FANCA, HNF1A, MLH1, MSH6, PTCH1, RECQL4, SLX4, TSC1, XPC	14	3	Despoina Kalfakakou
00020822	-	F	Monemvasia	Spetses	Greek	no	-	NF	-	-	APC, ATM, EXT2, FANCI, PMS1	7	1	Despoina Kalfakakou
00020827	-	M	Rethimno, Crete	Vilia, Attika	Greek	no	-	NF	-	-	BLM, CEP57, MLH1, MUTYH, NSD1, PALB2, PRF1, RB1, XPC	11	1	Despoina Kalfakakou
00020834	-	F	Zakynthos	-	Greek	no	-	CAL, NF	-	-	ALK, BAP1, FANCD2, HRAS, MET, MUTYH, NF1, SDHC, SMAD4, TSC2	13	1	Despoina Kalfakakou
00020880	-	F	Uzbekistan	Georgia	Greek	no	-	CAL, NF	-	-	BAP1, CDH1, CYLD, GPC3, MLH1, MSH6, RET, SLX4, TSC2	10	2	Despoina Kalfakakou
00020904	-	M	Asia Minor	Didymoteicho	Greek	no	-	CAL, NF, SRCM	-	-	AIP, CDH1, CEP57, DIS3L2, FANCD2, FANCM, KIT, MSH2, NBN, NF1, RHBDF2, WRN, XPC	14	4	Despoina Kalfakakou
00020905	-	F	Isaakio, Didymoteicho	Didymoteicho	Greek	no	-	CAL, NF	-	NF1	NF1	1	3	Despoina Kalfakakou
00020910	-	M	Ano Pedina, Ioannina	-	Greek	no	-	NF	-	-	ALK, APC, BAP1, CHEK2, ERCC2, FANCA, FANCM, MLH1, NF1, PALB2, PTCH1	12	2	Despoina Kalfakakou
00020945	-	F	Ios	Asia Minor	Greek	no	-	BrCa, ENC, NF, TRC	-	-	ATM, BUB1B, CHEK2, DICER1, FANCC, MAX, PPM1D, PRF1, PTEN, RB1, TSC2, XPC	14	1	Despoina Kalfakakou
00020950	-	M	Smyrna	Thessaloniki	Jewish	no	-	CAL, ColPol, MNGM, NF	-	NF2	-	0	1	Despoina Kalfakakou

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