Medulloblastoma

Gene: SUFU

Green List (high evidence)

SUFU (SUFU negative regulator of hedgehog signaling)
EnsemblGeneIds (GRCh38): ENSG00000107882
EnsemblGeneIds (GRCh37): ENSG00000107882
OMIM: 607035, Gene2Phenotype
SUFU is in 16 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ClinGen definitive. Medulloblastoma reported in condition.
Created: 12 Sep 2024, 9:43 p.m. | Last Modified: 12 Sep 2024, 9:43 p.m.
Panel Version: 0.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Details

Mode of Inheritance
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
OMIM
607035
Clinvar variants
Variants in SUFU
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: sufu 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: SUFU were changed from to 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

9 Aug 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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