Disease #00214

Official abbreviation	Polyposis
Name	Polyposis
OMIM ID	-
Inheritance	-
Individuals reported having this disease	135
Phenotype entries for this disease	144
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.

135 entries on 2 pages. Showing entries 1 - 100.

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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
00019595	-	M	-	-	Greek	no	-	Polyposis	-	APC	APC	1	3	Despoina Kalfakakou
00019603	-	M	-	-	Greek	no	-	Polyposis	-	APC	APC	1	1	Despoina Kalfakakou
00019604	-	M	-	-	-	no	-	ALL, CAL, CRC, GLM3, Polyposis	-	APC, MLH1, MSH2	-	0	1	Despoina Kalfakakou
00019607	-	M	-	-	-	no	-	Polyposis	-	APC	APC	1	1	Despoina Kalfakakou
00019614	-	F	-	-	Greek	no	-	CRC, Polyposis	-	APC	APC	1	1	Despoina Kalfakakou
00019616	-	M	-	-	-	no	-	Polyposis	-	APC	APC	1	1	Despoina Kalfakakou
00019626	-	M	-	-	-	no	-	Polyposis	-	APC, MUTYH	-	0	1	Despoina Kalfakakou
00019630	-	M	-	-	Greek	no	-	Polyposis	-	APC	APC	1	1	Despoina Kalfakakou
00019638	-	F	-	-	Greek	no	-	Polyposis	-	APC	APC	1	1	Despoina Kalfakakou
00019639	-	M	-	-	Greek	no	-	Polyposis	-	APC	APC	1	2	Despoina Kalfakakou
00019641	-	M	-	-	Greek	no	-	Polyposis	-	APC	APC	1	1	Despoina Kalfakakou
00019642	-	M	-	-	Greek	no	-	Polyposis	-	APC, MUTYH	-	0	1	Despoina Kalfakakou
00019644	-	F	-	-	Greek	no	-	Polyposis	-	APC, MUTYH	-	0	1	Despoina Kalfakakou
00019646	-	M	-	-	Greek	no	-	Polyposis	-	APC, MUTYH	-	0	1	Despoina Kalfakakou
00019649	-	F	-	-	Greek	no	-	Polyposis	-	APC	APC	1	1	Despoina Kalfakakou
00019652	-	M	-	-	Greek	no	-	Polyposis	-	APC	APC	1	1	Despoina Kalfakakou
00019653	-	F	-	-	Greek	no	-	Polyposis	-	APC	APC	1	1	Despoina Kalfakakou
00019654	-	F	-	-	Greek	no	-	Polyposis	-	APC	APC	1	1	Despoina Kalfakakou
00019655	-	M	-	-	Greek	no	-	Polyposis	-	APC, MUTYH	MUTYH	2	4	Despoina Kalfakakou
00019660	-	M	-	-	-	no	-	Polyposis	-	APC, MUTYH	-	0	1	Despoina Kalfakakou
00019664	-	F	-	-	Greek	no	-	Polyposis	-	APC	APC	1	1	Despoina Kalfakakou
00019666	-	M	-	-	Greek	no	-	Polyposis	-	APC	APC	1	1	Despoina Kalfakakou
00019668	-	M	-	-	Greek	no	-	CRC, Polyposis	-	APC, MUTYH	-	0	1	Despoina Kalfakakou
00019669	-	F	-	-	Greek	no	-	Polyposis	-	APC	APC	1	1	Despoina Kalfakakou
00019670	-	M	-	-	Greek	no	-	Polyposis	-	MUTYH	MUTYH	1	3	Despoina Kalfakakou
00019673	-	M	-	-	Greek	no	-	Polyposis	-	APC	APC	1	1	Despoina Kalfakakou
00019682	-	F	-	-	Greek	no	-	Polyposis	-	APC	APC	1	8	Despoina Kalfakakou
00019683	-	F	-	-	Greek	no	-	BrainCa, Polyposis	-	APC	APC	1	1	Despoina Kalfakakou
00019690	-	M	-	-	Greek	no	-	CRC, Polyposis	-	MUTYH	-	0	1	Despoina Kalfakakou
00019691	-	F	-	-	Greek	no	-	Polyposis	-	APC	APC	1	2	Despoina Kalfakakou
00019692	-	F	-	-	Greek	no	-	Polyposis	-	APC	APC	1	1	Despoina Kalfakakou
00019693	-	F	-	-	Greek	no	-	CRC, Polyposis	-	APC	APC	1	1	Despoina Kalfakakou
00019694	-	M	-	-	Greek	no	-	CRC, Polyposis	-	APC, MUTYH	-	0	1	Despoina Kalfakakou
00019698	-	M	-	-	Greek	no	-	Polyposis	-	APC	APC	1	6	Despoina Kalfakakou
00019702	-	F	Agrinio	Athens	Greek	no	-	ColPol, GaPol, Polyposis, TRC	-	APC	APC	1	5	Despoina Kalfakakou
00019704	-	M	-	-	Greek	no	-	Polyposis	-	MUTYH	-	0	1	Despoina Kalfakakou
00019713	-	M	-	-	Greek	no	-	Polyposis	-	APC, MUTYH	-	0	1	Despoina Kalfakakou
00019720	-	F	-	-	Greek	no	-	Polyposis	-	SMAD4	SMAD4	1	1	Despoina Kalfakakou
00019732	-	F	Kefalovryso, Argos	Argos	Greek	no	-	GaPol, Polyposis	-	APC	APC	1	2	Despoina Kalfakakou
00019737	-	M	-	-	Greek	no	-	Polyposis	-	MUTYH	-	0	1	Despoina Kalfakakou
00019738	-	M	Crete	Athens	Greek	no	-	CRC, Polyposis	-	-	FANCA, MSH6, PTCH1, SDHC, SDHD, TSC2	7	1	Despoina Kalfakakou
00019739	-	M	Diakopto, Achaia	Ioannina	Greek	no	-	Polyposis	-	APC	APC	1	3	Despoina Kalfakakou
00019746	-	M	Athens	Ilia	Greek	no	-	CRC, Polyposis	-	APC	APC	1	4	Despoina Kalfakakou
00019747	-	M	Athens	Ilia	Greek	no	-	F, Polyposis	-	APC	APC	1	3	Despoina Kalfakakou
00019748	-	F	Volos	Ilia	Greek	no	-	EnPol, GaPol, Polyposis	-	APC	APC	1	3	Despoina Kalfakakou
00019750	-	M	Ypati, Fthiotida	-	Greek	no	-	CRC, Polyposis	-	APC	APC	1	1	Despoina Kalfakakou
00019752	-	M	Messenia	-	Greek	no	-	Polyposis	-	MUTYH	MUTYH	2	2	Despoina Kalfakakou
00019754	-	M	Athens	Imathia	Greek	no	-	CRC, Polyposis	-	MUTYH	-	0	1	Despoina Kalfakakou
00019755	-	F	Euboea	-	Greek	no	-	Polyposis	-	BMPR1A	BLM, BMPR1A, BRCA2, FANCA, FANCD2, FANCF, MLH1, PHOX2B, RECQL4	9	2	Despoina Kalfakakou
00019756	-	F	Euboea	-	Greek	no	-	Polyposis	-	BMPR1A	BMPR1A	1	1	Despoina Kalfakakou
00019757	-	M	-	-	Greek	no	-	Polyposis	-	APC	APC	1	3	Despoina Kalfakakou
00019763	-	M	Alexandroupolis	Ioannina	Greek	no	-	GaPol, GIST, Polyposis	-	APC	APC	1	1	Despoina Kalfakakou
00019768	-	M	Pyrgos, Ilia	-	Greek	no	-	Polyposis	-	MUTYH	-	0	1	Despoina Kalfakakou
00019770	-	F	Crete	-	Greek	no	-	CRC, Polyposis	-	-	EGFR, ERCC4, MET, MLH1, PTCH1	7	1	Despoina Kalfakakou
00019785	-	F	Athens	-	Greek	no	-	Polyposis	-	MUTYH	-	0	1	Despoina Kalfakakou
00019788	-	M	Karditsa	-	Greek	no	-	Polyposis	-	MUTYH	MUTYH	2	1	Despoina Kalfakakou
00019789	-	M	Athens	Trikala	Greek	no	-	Polyposis	-	APC	APC	1	1	Despoina Kalfakakou
00019794	-	F	Heraklion, Crete	-	Greek	no	-	Polyposis	-	APC	APC	1	2	Despoina Kalfakakou
00019810	-	M	Hydra	Mykonos	Greek	no	-	Polyposis	-	-	APC, BRCA1, BRCA2, DICER1, EGFR, EPCAM, KIT, MEN1, MSH2, PRF1, RECQL4, SDHD, WRN, XPC	18	1	Despoina Kalfakakou
00019812	-	F	Vasilika, Euboea	-	Greek	no	-	Polyposis	-	-	ATM, BUB1B, FLCN, SLX4	4	1	Despoina Kalfakakou
00019826	-	M	Drama	-	Greek	no	-	CRC, Polyposis	-	-	CEP57, ERCC5, FANCA, FANCM, SMARCB1, SUFU, WT1	8	1	Despoina Kalfakakou
00019828	-	F	Euboea	Smyrna	Greek	no	-	CRC, Polyposis	-	MUTYH	MUTYH	2	3	Despoina Kalfakakou
00019829	-	M	Euboea	Smyrna	Greek	no	-	Polyposis	-	MUTYH	MUTYH	2	2	Despoina Kalfakakou
00019831	-	M	Messene, Messenia	Armenia	Greek	no	-	ColPol, Polyposis	-	-	ATM, CDK4, DDB2, ERCC2, FANCA, FANCE, FH, KIT, MLH1, MSH6, PRKAR1A, RAD51C, RECQL4, SLX4	17	1	Despoina Kalfakakou
00019833	-	M	Petrousa, Drama	-	Greek	no	-	LymphoSRCM, Polyposis	-	MUTYH	-	0	1	Despoina Kalfakakou
00019838	-	M	Heraklion, Crete	Paos, Kalavryta	Greek	no	-	Polyposis	-	APC	APC	1	5	Despoina Kalfakakou
00019850	-	F	Kalymnos	Folegandros	Greek	no	-	Polyposis	-	-	APC, ATM, EXT2, FANCM, FLCN, MLH1, MSH2, NBN, PALB2	12	1	Despoina Kalfakakou
00019851	-	M	Antalya, Asia Minor	Athens	Greek	no	-	Polyposis	-	-	APC, BRCA2, DIS3L2, ERCC2, FANCB, MUTYH, NBN, RB1, SMAD4	16	5	Despoina Kalfakakou
00019853	-	F	Antalya, Asia Minor	Athens	Greek	no	-	Polyposis	-	SMAD4	SMAD4	1	4	Despoina Kalfakakou
00019854	-	M	Antalya, Asia Minor	Athens	Greek	no	-	Polyposis	-	SMAD4	SMAD4	1	4	Despoina Kalfakakou
00019871	-	M	Aivali, Asia Minor	Constantinople	Greek	no	-	Polyposis	-	APC	APC	1	4	Despoina Kalfakakou
00019890	-	M	Kallithea, Phthiotis	Lichno, Phthiotis	Greek	no	-	Polyposis	-	MUTYH	MUTYH	1	1	Despoina Kalfakakou
00019891	-	F	Rethimno, Crete	Arcadia	Greek	no	-	Polyposis	-	-	BLM, CDH1, CYLD, DICER1, ERCC4, FANCD2, HNF1A, MSH6, RECQL4, STK11, TSC2, XPC	14	1	Despoina Kalfakakou
00019893	-	M	Almiros, Volos	-	Greek	no	-	Polyposis	-	-	ATM, CDC73, MSH6, MUTYH, PMS1, RB1, RET, SLX4, WT1	11	3	Despoina Kalfakakou
00019896	-	F	Selianitika, Aigio	Aigio	Greek	no	-	CRC, Polyposis	-	-	CDH1, DDB2, MUTYH, SUFU, TSC2	10	1	Despoina Kalfakakou
00019897	-	F	Athens	-	Greek	no	-	Polyposis	-	-	CDC73, SMAD4	2	3	Despoina Kalfakakou
00019900	-	M	Trikala, Thessaly	-	Greek	no	-	ColPol, Polyposis	-	APC	APC, DIS3L2, FANCC, NF1, RET, SLX4	11	3	Despoina Kalfakakou
00019907	-	F	Lefkada	-	Greek	no	-	Polyposis	-	APC	APC	1	5	Despoina Kalfakakou
00019912	-	M	-	-	Greek	no	-	ColPol, CRC, LuCa, NDL, Polyposis	-	-	BLM, CDH1, FANCI, FANCL, FANCM, MSH6, NF2, SDHC, WRN	10	1	Despoina Kalfakakou
00019913	-	F	Agios Petros, Kynouria	Cairo, Egypt	Greek	no	-	BrCa, Polyposis	-	-	BRCA1, CDC73, CDH1, FLCN, GATA2, PTCH1, RB1, RUNX1, SLX4	11	1	Despoina Kalfakakou
00019914	-	M	Albania	-	Albanian	no	-	CRC, Polyposis	-	-	BMPR1A, BRCA2, BRIP1, CHEK2, FANCA, PALB2	6	1	Despoina Kalfakakou
00019915	-	F	Klisto, Evrytania	-	Greek	no	-	CRC, Polyposis	-	-	ATM, BAP1, BRIP1, ERCC3, EXT2, FH, MSH2, RECQL4	8	1	Despoina Kalfakakou
00019917	-	M	Kostaniani, Ioannina	-	Greek	no	-	Polyposis	-	APC	APC	1	4	Despoina Kalfakakou
00019924	-	M	Nea Styra, Euboea	-	Greek	no	-	CRC, Polyposis	-	APC	APC	1	1	Despoina Kalfakakou
00019928	-	F	Albania	-	Albanian	no	-	Polyposis	-	APC, MUTYH	APC	1	1	Despoina Kalfakakou
00019929	-	M	Heraklion, Crete	-	Greek	no	-	Polyposis	-	-	APC, CDC73, FANCA, PALB2, PMS2, TP53, TSC2	8	1	Despoina Kalfakakou
00019930	-	M	Chania, Crete	Amfissa	Greek	no	-	Polyposis	-	-	DIS3L2, ERCC4, EXT2, FANCA, NF2, PRF1, RB1, TSC2	11	1	Despoina Kalfakakou
00019931	-	M	Athens	-	Greek	no	-	Polyposis	-	-	EGFR, FANCA, MLH1, SDHB, TSC2	6	1	Despoina Kalfakakou
00019934	-	F	Ilia	Asia Minor	Greek	no	-	Polyposis	-	-	CHEK2, ERCC2, PALB2, TSC2	8	1	Despoina Kalfakakou
00019935	-	F	Karditsa	-	Greek	no	-	LiCa, Polyposis	-	APC	APC	1	3	Despoina Kalfakakou
00019938	-	M	Tylissos, Crete	-	Greek	no	-	Polyposis	-	NTHL1	ALK, BLM, BRIP1, ERCC4, NSD1, NTHL1, SDHD	9	1	Despoina Kalfakakou
00019939	-	M	Mochos, Crete	-	Greek	no	-	Polyposis	-	-	ATM, BRIP1, DICER1, DIS3L2, ERCC5, FANCL, FLCN, PPM1D, RECQL4, XPC	10	1	Despoina Kalfakakou
00019941	-	F	Chania, Crete	Karditsa	Greek	no	-	Polyposis	-	-	APC, EGFR, ERCC2, MET, MLH1, NF2, RET, TSC2	12	5	Despoina Kalfakakou
00019946	-	M	Albania	-	Albanian	no	-	Polyposis	-	APC	APC	1	5	Despoina Kalfakakou
00019958	-	M	Tylissos, Crete	-	Greek	no	-	CRC, Polyposis	-	NTHL1	NTHL1	1	1	Despoina Kalfakakou
00019968	-	M	Sitia	Chriso, Serres	Greek	no	-	Polyposis	-	APC, MUTYH	APC	1	1	Despoina Kalfakakou
00019974	-	M	Albania	-	Albanian	no	-	Polyposis	-	-	BLM, BRCA1, DDB2, FANCD2, HRAS, MLH1, MUTYH, RHBDF2, SDHD	13	1	Despoina Kalfakakou
00019981	-	M	Skafidia, Ilia	Nea Manolada, Ilia	Greek	no	-	Polyposis	-	-	ATM, CEP57, CYLD, DICER1, EGFR, FANCD2, MLH1, SLX4, STK11, SUFU, WRN, WT1	16	1	Despoina Kalfakakou
00019983	-	M	Lamia	Kamena Vourla	Greek	no	-	CRC, Polyposis	-	-	BRCA1, MLH1, MSH2, NF1, RAD51C, RHBDF2, TSC2	12	1	Despoina Kalfakakou
00019985	-	F	Kayseri, Cappadocia	Kounavi, Crete	Greek	no	-	Polyposis	-	MUTYH	MUTYH	2	4	Despoina Kalfakakou

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

TSC2 (TSC complex subunit 2)

Disease #00214

Individuals

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