Disease #00135

Official abbreviation PGL2
Name Paragangliomas 2
OMIM ID 601650
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 12
Phenotype entries for this disease 12
Associated with 2 genes SDHAF2, SDHB
Associated tissues -
Disease features -
Remarks -


Individuals

12 entries on 1 page. Showing entries 1 - 12.
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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     
00020728 - F - - Greek no - PGL2 - - - 0 1 Despoina Kalfakakou
00020736 - F Kilada, Argolis Heraklion, Crete Greek no - PGL2 - - - 0 6 Despoina Kalfakakou
00020766 - F Milies, Euboea Krioneritis, Euboea Greek no - PGL2, Pheo - - ATM, BLM, FANCE, FANCI, FANCM, FLCN, MLH1, MSH6, NBN, RECQL4, RET, TSC1, TSC2 17 1 Despoina Kalfakakou
00020804 - F Vargiades, Ioannina Achladea, Ioannina Greek no - PGL2 - - CDK4, MLH1, RET, WRN 8 1 Despoina Kalfakakou
00020847 - M Piraeus Smyrna, Asia Minor Greek no - PGL2 - - ATM, BRCA2, CDC73, FANCD2, MUTYH, NF2, TSC1, TSC2 12 1 Despoina Kalfakakou
00020884 - M Palairos, Etolia-Akarnania Monastiraki, Aetolia-Acarnania Greek no - PGL2 - - ATM, ERCC2, FANCM, MSH6, MUTYH, SDHB, XPC 8 3 Despoina Kalfakakou
00020888 - F Rhodes - Greek no - PGL2 - - ATM, ERCC2, ERCC5, FANCG, MET, PALB2, PMS2, RET, SDHB 12 4 Despoina Kalfakakou
00020889 - M Rhodes - Greek no - PGL2 - - - 0 3 Despoina Kalfakakou
00020909 - M Ariada, Etolia-Akarnania - Greek no - PGL2, Pheo - - CYLD, ERCC3, ERCC4, FANCA, FANCD2, FANCE, KIT, NF1, NSD1, RET 14 1 Despoina Kalfakakou
00020917 - F Agrinia, Kefalinia - Greek no - PGL2 - - CYLD, DIS3L2, ERCC3, FANCA, RUNX1, TSC2 8 1 Despoina Kalfakakou
00020925 - F Gytheio, Laconia Chosiario, Laconia Greek no - BBT, PGL2 - - ATM, BMPR1A, EXT2, FANCI, NF1, RHBDF2, VHL 10 5 Despoina Kalfakakou
00021601 - F Neapoli, Laconia - Greek no - OVCA, PGL2 - - CDH1, HNF1A, MSH6, NF1, TSC1 9 1 Despoina Kalfakakou
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