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Meningioma

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. Meningiomas reported in condition.
Sources: Expert list, Expert Review
Created: 12 Sep 2024, 1 a.m. | Last Modified: 12 Sep 2024, 2:58 a.m.
Panel Version: 0.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Meningioma, MONDO:0016642; 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

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Meningioma, MONDO:0016642
  • 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).

12 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

12 Sep 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

gene: SUFU was added gene: SUFU was added to Meningioma. Sources: Expert list,Expert Review Mode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SUFU were set to Meningioma, MONDO:0016642; 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 Review for gene: SUFU was set to GREEN gene: SUFU was marked as current diagnostic