This Panel is marked as Retired
Multiple Tumours
Gene: SUFU
SUFU (SUFU negative regulator of hedgehog signaling)
EnsemblGeneIds (GRCh38): ENSG00000107882
EnsemblGeneIds (GRCh37): ENSG00000107882
OMIM: 607035, Gene2Phenotype
SUFU is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000107882
EnsemblGeneIds (GRCh37): ENSG00000107882
OMIM: 607035, Gene2Phenotype
SUFU is in 21 panels
1 review
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:47 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Medulloblastoma
- Genodermatoses with malignancies
- OMIM
- 607035
- Clinvar variants
- Variants in SUFU
- Penetrance
- Complete
- Panels with this gene
-
- Ophthalmological ciliopathies
- Holoprosencephaly - NOT chromosomal
- Skeletal ciliopathies
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Intellectual disability
- Limb disorders
- Ataxia and cerebellar anomalies - narrow panel
- Genodermatoses with malignancies
- Childhood onset dystonia, chorea or related movement disorder
- Neurological ciliopathies
- Hydrocephalus
- Childhood solid tumours
- Adult solid tumours for rare disease
- Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome
- Familial tumours of the nervous system
- Adult solid tumours cancer susceptibility
- DDG2P
- Rare multisystem ciliopathy disorders
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
History Filter Activity
9 Mar 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)SUFU was added to Multiple Tumourspanel. Source: Expert Review Green
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SUFU was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SUFU was created by ellenmcdonagh