Disease #00032

Official abbreviation CMM2
Name Melanoma, cutaneous malignant, 2
OMIM ID 155601
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 6
Phenotype entries for this disease 6
Associated with 1 gene CDKN2A
Associated tissues skin
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     
00014922 - F Thessaloniki - Greek no - BrCa, CMM2 - BRCA1 - 0 1 Despoina Kalfakakou
00016188 - F Pafra, Pontus Reichea, Laconia Greek no - BrCa, CMM2 - - - 0 1 Despoina Kalfakakou
00017163 - F Trikala Central Greece Greek no - BrCa, CMM2 - - BRCA2, ERCC3, RECQL4, SLX4, XPC 6 1 Despoina Kalfakakou
00017298 - F Asia Minor Oreini Nafpaktia Greek no - BrCa, CMM2 - - APC, DICER1, FANCL, MEN1, MSH2, MSH6, NSD1, RECQL4, SMARCB1 10 1 Despoina Kalfakakou
00017803 - F Acharnes - Greek no - BrCa, CMM2 - - ALK, BRCA2, ERCC2, ERCC5, HRAS, MSH6, RAD51C, RB1 12 1 Despoina Kalfakakou
00017891 - F Germany United Kingdom NGE no - BrCa, CMM2 - - ATM, BRCA2, ERCC2, MET, MLH1, MSH2, RECQL4, RET, SUFU, TSC2, WRN 17 1 Despoina Kalfakakou
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