Disease #00117

Official abbreviation CWS1
Name Cowden syndrome 1
OMIM ID 158350
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 6
Phenotype entries for this disease 6
Associated with 1 gene PTEN
Associated tissues -
Disease features -
Remarks -


Individuals

6 entries on 1 page. Showing entries 1 - 6.
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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     
00015210 - F - - Greek no - BrCa, CWS1 - - - 0 1 Despoina Kalfakakou
00015387 - F Larisa Skopelos Greek no - BrCa, CWS1, ENC, EnPol - - - 0 1 Despoina Kalfakakou
00015512 - F Izmir Nafpaktos Greek no - BrCa, CWS1 - PALB2, PTEN - 0 5 Despoina Kalfakakou
00015514 - F Izmir Nafpaktos Greek no - CWS1, TRC - PALB2, PTEN - 0 4 Despoina Kalfakakou
00015788 - F Kozani - Greek no - BrCa, CWS1 - - CDH1, CHEK2, EXT1, FANCC, MUTYH, PTEN, SUFU 9 1 Despoina Kalfakakou
00016045 - F - - Greek no - BrCa, CWS1 - - - 0 1 Despoina Kalfakakou
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