Description
This panel contains genes associated with medulloblastoma. 

Further information on the testing criteria for medulloblastoma can be found at eviQ: 
https://www.eviq.org.au/cancer-genetics/paediatric/genetic-testing-using-cancer-gene-panels/3654-medulloblastoma-panel-testing

Only ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with medulloblastoma and are clinically actionable for diagnostic and/or predictive genetic testing.

Ensure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.

This panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.


This panel was developed by the Adult Genetics Unit, Royal Adelaide Hospital and SA Pathology. This panel has been updated under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).

2 reviewers

  • Chirag Patel (Genetic Health Queensland)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

12 Entities

12 reviewed, 12 green

List Entity Reviews Mode of inheritance Details
12 Entitiess
Green Green List (high evidence)
APC
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • SA Pathology
Phenotypes
  • Medulloblastoma, MONDO:0007959
  • Familial adenomatous polyposis 1, MONDO:0021056
  • Adenomatous polyposis coli, MIM#175100
Tags
Green Green List (high evidence)
BRCA2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Medulloblastoma, MONDO:0007959
  • BRCA2-related cancer predisposition, MONDO:0700269
  • Breast-ovarian cancer, familial, 2, MIM#612555
Tags
Green Green List (high evidence)
ELP1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Medulloblastoma, MONDO:0007959
  • Medulloblastoma predisposition syndrome, MIM#155255
Tags
Green Green List (high evidence)
EPCAM
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Medulloblastoma, MONDO:0007959
  • Lynch syndrome 8, MONDO:0013196
  • Lynch syndrome 8, MIM#613244
Tags
Green Green List (high evidence)
GPR161
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Medulloblastoma, MONDO:0007959
  • Medulloblastoma predisposition syndrome, MIM#155255
Tags
Green Green List (high evidence)
MLH1
1 review
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Medulloblastoma, MONDO:0007959
  • Lynch syndrome 2, MONDO:0012249
  • Mismatch repair cancer syndrome 1, MONDO:0010159
  • Lynch syndrome 2, MIM#609310
  • Mismatch repair cancer syndrome 1, MIM#276300
Tags
Green Green List (high evidence)
MSH2
1 review
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Medulloblastoma, MONDO:0007959
  • Lynch syndrome 1, MONDO:0007356
  • Mismatch repair cancer syndrome 2, MONDO:0030840
  • Lynch syndrome 1, MIM#120435
  • Mismatch repair cancer syndrome 2, MIM#619096
Tags
Green Green List (high evidence)
MSH6
1 review
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Medulloblastoma, MONDO:0007959
  • Lynch syndrome 5, MONDO:0013710
  • Mismatch repair cancer syndrome 3, MONDO:0030841
  • Lynch syndrome 5, MIM#614350
  • Mismatch repair cancer syndrome 3, MIM#619097
Tags
Green Green List (high evidence)
PMS2
1 review
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Medulloblastoma, MONDO:0007959
  • Lynch syndrome 4, MONDO:0013699
  • Mismatch repair cancer syndrome 4, MONDO:0030843
  • Lynch syndrome 4, MIM#614337
  • Mismatch repair cancer syndrome 4, MIM#619101
Tags
Green Green List (high evidence)
PTCH1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • SA Pathology
Phenotypes
  • Medulloblastoma, MONDO:0007959
  • Basal cell nevus syndrome 1, MONDO:0958174
  • Basal cell nevus syndrome 1, MIM#109400
Tags
Green Green List (high evidence)
SUFU
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • SA Pathology
Phenotypes
  • Medulloblastoma, MONDO:0007959
  • Basal cell nevus syndrome 2, MONDO:0958189
  • Basal cell nevus syndrome 2, MIM#620343
  • Meningioma, familial, susceptibility to, MIM#607174
  • Medulloblastoma predisposition syndrome, MIM#155255
Tags
Green Green List (high evidence)
TP53
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • SA Pathology
Phenotypes
  • Medulloblastoma, MONDO:0007959
  • Li-Fraumeni syndrome, MONDO:0018875
  • Li-Fraumeni syndrome, MIM#151623
Tags

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