Disease #00221

Official abbreviation	CAL
Name	Café au Lait spots
OMIM ID	-
Inheritance	-
Individuals reported having this disease	21
Phenotype entries for this disease	22
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.

21 entries on 1 page. Showing entries 1 - 21.

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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
00019604	-	M	-	-	-	no	-	ALL, CAL, CRC, GLM3, Polyposis	-	APC, MLH1, MSH2	-	0	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
00020743	-	F	-	-	Greek	no	-	CAL, LiCa, NDL, TRC	-	-	ATM, CHEK2, DICER1, EGFR, FANCI, PMS2, PTCH1, RB1, SUFU	10	1	Despoina Kalfakakou
00020747	-	M	Parga, Preveza	-	Greek	no	-	CAL, GIST	-	-	BRCA2, BUB1B, EGFR, EXT1, NF1, RAD51C, SLX4	8	5	Despoina Kalfakakou
00020748	-	M	Parga, Preveza	-	Greek	no	-	CAL	-	NF1	NF1	1	4	Despoina Kalfakakou
00020783	-	M	Orchomenus, Boeotia	Domokos, Phthiotis	Greek	no	-	CAL, NF	-	-	ATM, FANCD2, FANCI, HNF1A, PTEN, RECQL4, WRN, XPC	11	1	Despoina Kalfakakou
00020796	-	F	Athens	-	Greek	no	-	BrainCa, CAL	-	-	BUB1B, DICER1, ERCC5, MLH1, MUTYH, RECQL4, SDHB, TSC2	10	1	Despoina Kalfakakou
00020798	-	M	-	-	Greek	no	-	CAL, NF, SRCM	-	-	CEP57, FANCA, HNF1A, MLH1, MSH6, PTCH1, RECQL4, SLX4, TSC1, XPC	14	3	Despoina Kalfakakou
00020800	-	F	-	-	Greek	no	-	CAL	-	-	BRCA1, CDH1, FANCA, GPC3, KIT, MLH1, MSH6, PRKAR1A, PTCH1, RECQL4, TSC1, XPC	18	2	Despoina Kalfakakou
00020834	-	F	Zakynthos	-	Greek	no	-	CAL, NF	-	-	ALK, BAP1, FANCD2, HRAS, MET, MUTYH, NF1, SDHC, SMAD4, TSC2	13	1	Despoina Kalfakakou
00020841	-	F	Corinth	-	Greek	no	-	CAL	-	-	BAP1, MSH2, PMS2, SLX4, SMAD4, WT1	6	1	Despoina Kalfakakou
00020842	-	F	Roma	-	Roma	no	-	CAL	-	-	MLH1, NSD1, PMS2, TSC2	6	1	Despoina Kalfakakou
00020873	-	M	Nisyros	Constantinople	Greek	no	-	CAL, HypPT, NDL, Pheo	-	-	ALK, BAP1, BRCA2, BUB1B, DIS3L2, ERCC2, MLH1, NF1, PTCH1, RB1, SUFU	14	2	Despoina Kalfakakou
00020874	-	F	Nisyros	Andros	Greek	no	-	CAL	-	NF1	NF1	1	1	Despoina Kalfakakou
00020880	-	F	Uzbekistan	Georgia	Greek	no	-	CAL, NF	-	-	BAP1, CDH1, CYLD, GPC3, MLH1, MSH6, RET, SLX4, TSC2	10	2	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
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
00020915	-	M	Athens	Mani	Greek	no	-	BonMal, CAL	-	-	BLM, BRIP1, FANCE, MUTYH, NBN, NF1, PMS1, RB1, RET	10	1	Despoina Kalfakakou
00020946	-	M	Simi	Agrinio	Greek	no	-	AML, CAL	-	-	BRCA2, NSD1, RECQL4, SLX4, WRN	7	1	Despoina Kalfakakou
00020950	-	M	Smyrna	Thessaloniki	Jewish	no	-	CAL, ColPol, MNGM, NF	-	NF2	-	0	1	Despoina Kalfakakou

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