Facial papules
Gene: SUFUEnsemblGeneIds (GRCh38): ENSG00000107882
EnsemblGeneIds (GRCh37): ENSG00000107882
OMIM: 607035, Gene2Phenotype
SUFU is in 16 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
BCCs can present on the face and coarse facial features and facial milia can also be present but are milder than PTCH1-related NBCCS.
Sources: Expert listCreated: 19 Jun 2023, 1:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
nevoid basal cell carcinoma syndrome MONDO:0007187
Publications
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 list
- Phenotypes
-
- nevoid basal cell carcinoma syndrome MONDO:0007187
- OMIM
- 607035
- Clinvar variants
- Variants in SUFU
- Penetrance
- None
- Publications
- 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
Bryony Thompson (Royal Melbourne Hospital)Gene: sufu has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: sufu has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SUFU was added gene: SUFU was added to Facial papules. Sources: Expert list Mode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SUFU were set to 20301330 Phenotypes for gene: SUFU were set to nevoid basal cell carcinoma syndrome MONDO:0007187 Review for gene: SUFU was set to GREEN gene: SUFU was marked as current diagnostic