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

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

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00019604 - - - - - no - ALL, CAL, CRC, GLM3, Polyposis - - - 0 1 Despoina Kalfakakou
00020734 - F Kozani - Greek no - CAL, GIST, NF, Pheo - - BAP1, ERCC4, FANCE, KIT, MLH1, MUTYH, NF1, PTCH1, SDHB, SUFU 12 1 Despoina Kalfakakou
00020743 - F - - Greek no - CAL, LiCa, NDL, TRC - - ATM, CHEK2, DICER1, EGFR, FANCI, PMS2, PTCH1, RB1, SUFU 11 1 Despoina Kalfakakou
00020747 - M Parga, Preveza - Greek no - CAL, GIST - - BRCA2, BUB1B, EGFR, EXT1, NF1, RAD51C, SLX4 10 5 Despoina Kalfakakou
00020748 - M Parga, Preveza - Greek no - CAL - - - 0 4 Despoina Kalfakakou
00020783 - M Orchomenus, Boeotia Domokos, Phthiotis Greek no - CAL, NF - - ATM, FANCD2, FANCI, HNF1A, PTEN, RECQL4, WRN, XPC 12 1 Despoina Kalfakakou
00020796 - F Athens - Greek no - BrainCa, CAL - - BUB1B, DICER1, ERCC5, MLH1, MUTYH, NF1, RECQL4, SDHB, TSC2 13 1 Despoina Kalfakakou
00020798 - M - - Greek no - CAL, NF, SRCM - - CEP57, FANCA, HNF1A, MLH1, MSH6, PTCH1, RECQL4, SLX4, TSC1, XPC 15 3 Despoina Kalfakakou
00020800 - F - - Greek no - CAL - - BRCA1, CDH1, FANCA, GPC3, KIT, MLH1, MSH6, PRKAR1A, PTCH1, RECQL4, TSC1, XPC 19 2 Despoina Kalfakakou
00020834 - F Zakynthos - Greek no - CAL, NF - - ALK, BAP1, FANCD2, HRAS, MET, MUTYH, NF1, SDHC, SMAD4, TSC2 15 1 Despoina Kalfakakou
00020841 - F Corinth - Greek no - CAL - - BAP1, MSH2, PMS2, SLX4, SMAD4, WT1 7 1 Despoina Kalfakakou
00020842 - F Roma - Roma no - CAL - - MLH1, NF1, NSD1, PMS2, TSC2 8 1 Despoina Kalfakakou
00020873 - M Nisyros Constantinople Greek no - CAL, HypPT, NDL, Pheo - - ALK, BAP1, BRCA2, BUB1B, DIS3L2, ERCC2, MLH1, NF1, PTCH1, RB1, SUFU 15 2 Despoina Kalfakakou
00020874 - F Nisyros Andros Greek no - CAL - - - 0 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 - - APC, BRCA2, EPCAM, EXT2, FANCA, FANCI, MSH2, NF1, NSD1, RET 26 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 15 4 Despoina Kalfakakou
00020905 - F Isaakio, Didymoteicho Didymoteicho Greek no - CAL, NF - - - 0 3 Despoina Kalfakakou
00020915 - M Athens Mani Greek no - BonMal, CAL - - BLM, BRIP1, FANCE, MUTYH, NBN, NF1, PMS1, RB1, RET 11 1 Despoina Kalfakakou
00020946 - M Simi Agrinio Greek no - AML, CAL - - - 0 1 Despoina Kalfakakou
00020950 - M Smyrna Thessaloniki Jewish no - CAL, ColPol, MNGM, NF - - - 0 1 Despoina Kalfakakou
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