Adult solid tumours for rare disease
Gene: SUFUEnsemblGeneIds (GRCh38): ENSG00000107882
EnsemblGeneIds (GRCh37): ENSG00000107882
OMIM: 607035, Gene2Phenotype
SUFU is in 21 panels
1 review
Clare Turnbull (Queen Mary University London)
Tumor Suppressor.Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SUFU associated Medulloblastoma
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Basal cell nevus syndrome, OMIM:109400
- {Medulloblastoma}, OMIM:155255
- {Meningioma, familial, susceptibility to}, OMIM:607174
- OMIM
- 607035
- Clinvar variants
- Variants in SUFU
- Penetrance
- None
- Panels with this gene
-
- Limb disorders
- Ophthalmological ciliopathies
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- Genodermatoses with malignancies
- Adult solid tumours for rare disease
- Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- Familial tumours of the nervous system
- Childhood solid tumours
- Skeletal ciliopathies
- Neurological ciliopathies
- Adult solid tumours cancer susceptibility
- Fetal anomalies
- Holoprosencephaly - NOT chromosomal
- Rare multisystem ciliopathy disorders
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SUFU were changed from {Medulloblastoma}, OMIM:155255; {Meningioma, familial, susceptibility to}, OMIM:607174 to Basal cell nevus syndrome, OMIM:109400; {Medulloblastoma}, OMIM:155255; {Meningioma, familial, susceptibility to}, OMIM:607174
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SUFU were changed from SUFU associated Medulloblastoma to {Medulloblastoma}, OMIM:155255; {Meningioma, familial, susceptibility to}, OMIM:607174
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)5th March 2018 - promoted to version 1 after expert review and internal clinical review.
Added New Source
Ellen McDonagh (Genomics England Curator)SUFU was added to Adult solid tumours for rare disease panel. Sources: Expert Review Green,Expert list
Created
Ellen McDonagh (Genomics England Curator)SUFU was created by Ellen McDonagh