Incidentalome_PREGEN_DRAFT
Gene: SUFU
SUFU (SUFU negative regulator of hedgehog signaling)
EnsemblGeneIds (GRCh38): ENSG00000107882
EnsemblGeneIds (GRCh37): ENSG00000107882
OMIM: 607035, Gene2Phenotype
SUFU is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000107882
EnsemblGeneIds (GRCh37): ENSG00000107882
OMIM: 607035, Gene2Phenotype
SUFU is in 16 panels
1 review
Tony Roscioli (New South Wales Health Pathology)
Comment on list classification: may present in childhoodCreated: 20 Jan 2021, 5:24 a.m. | Last Modified: 20 Jan 2021, 5:24 a.m.
Panel Version: 0.32
may present in childhoodCreated: 20 Jan 2021, 5:24 a.m. | Last Modified: 20 Jan 2021, 5:24 a.m.
Panel Version: 0.31
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- NSW Health Pathology
- 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
20 Jan 2021, Gel status: 1
Entity classified by Genomics England curator
Tony Roscioli (New South Wales Health Pathology)Gene: sufu has been classified as Red List (Low Evidence).
9 Nov 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 Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology Mode of inheritance for gene: SUFU was set to Unknown