Medulloblastoma
Gene: SUFUEnsemblGeneIds (GRCh38): ENSG00000107882
EnsemblGeneIds (GRCh37): ENSG00000107882
OMIM: 607035, Gene2Phenotype
SUFU is in 16 panels
1 review
Chirag Patel (Genetic Health Queensland)
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
-
- Joubert syndrome and other neurological ciliopathies
- Ciliopathies
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
- Cancer Predisposition_Paediatric
- Hydrocephalus_Ventriculomegaly
- Meningioma
- Medulloblastoma
- Macrocephaly_Megalencephaly
- Facial papules
- Fetal anomalies
- Mendeliome
- Ataxia - paediatric
- Basal Cell Cancer
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sufu has been classified as Green List (High Evidence).
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
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