Basal Cell Cancer
Gene: SUFUEnsemblGeneIds (GRCh38): ENSG00000107882
EnsemblGeneIds (GRCh37): ENSG00000107882
OMIM: 607035, Gene2Phenotype
SUFU is in 16 panels
1 review
Chirag Patel (Genetic Health Queensland)
Established gene-disease association with basal cell nevus syndrome (also known as Gorlin syndrome). Basal cell cancers reported in condition. ClinGen definitive for medulloblastoma.
Sources: Expert list, Expert ReviewCreated: 12 Sep 2024, 2:57 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Basal cell carcinoma, MONDO:0020804; 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
Publications
- PMID: 20301330
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Expert list
- Phenotypes
-
- Basal cell carcinoma, MONDO:0020804
- 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
- Publications
-
- PMID: 20301330
- 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).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: sufu has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: SUFU was added gene: SUFU was added to Basal Cell Cancer. Sources: Expert list,Expert Review Mode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SUFU were set to PMID: 20301330 Phenotypes for gene: SUFU were set to Basal cell carcinoma, MONDO:0020804; 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