Transplant Co-Morbidity Superpanel
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
0 reviews
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert List
- Phenotypes
-
- SUFU-related neurodevelopmental disorder
- 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
1 Aug 2023, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: sufu has been classified as Green List (High Evidence).
1 Aug 2023, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SUFU was added gene: SUFU was added to Transplant Co-Morbidity Superpanel. Sources: Expert List Mode of inheritance for gene: SUFU was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SUFU were set to SUFU-related neurodevelopmental disorder