Disease #00022

Official abbreviation -
Name Medulloblastoma
OMIM ID 155255
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 2
Phenotype entries for this disease 3
Associated with 2 genes MLH3, MSH3
Associated tissues -
Disease features -
Remarks -


Individuals

2 entries on 1 page. Showing entries 1 - 2.
Legend  

AscendingIndividual ID     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Remarks     

Pedigree information available     

Family History     

Selection criteria for proband testing     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00002303 - ? - - InSiGHT LOVDv2 ID:57; This data has been transferred from InSiGHT LOVDv2 database. - - - Medulloblastoma Additional info: young onset, medulloblastoma, acute myelocytic leukemia, colonic carcinomas; MSH6 MSH6 2 1 Michael Woods
00028541 Taeubner et al. 2018 F parents: roma background - non-consanguinity Yes a family history without cancer diagnosis in the three preceding generations - Medulloblastoma skin pigmentation including multiple café-au-lait macules, hypopigmented areas and Mongolian spots - MSH2, MSH6 2 1 Julia Taeubner
Legend