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  3. APC
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Medulloblastoma

Gene: APC

Green List (high evidence)
APC (APC, WNT signaling pathway regulator)
EnsemblGeneIds (GRCh38): ENSG00000134982
EnsemblGeneIds (GRCh37): ENSG00000134982
OMIM: 611731, Gene2Phenotype
APC is in 11 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ClinGen definitive. Medulloblastoma reported in condition.
Created: 12 Sep 2024, 9:42 p.m. | Last Modified: 12 Sep 2024, 9:42 p.m.
Panel Version: 0.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Medulloblastoma, MONDO:0007959; Familial adenomatous polyposis 1, MONDO:0021056; Adenomatous polyposis coli, MIM#175100

Created: 12 Sep 2024, 9:42 p.m.
Last Modified: 12 Sep 2024, 9:42 p.m.
Panel version: 0.12

Details

Mode of Inheritance
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
OMIM
611731
Clinvar variants
Variants in APC
Penetrance
None
Panels with this gene

History Filter Activity

9 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: apc has been classified as Green List (High Evidence).

9 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: APC were changed from to Medulloblastoma, MONDO:0007959; Familial adenomatous polyposis 1, MONDO:0021056; Adenomatous polyposis coli, MIM#175100

9 Aug 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: APC was added gene: APC was added to Medulloblastoma. Sources: SA Pathology,Expert Review Green Mode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted