Familial Tumours Syndromes of the central & peripheral Nervous system
Gene: SUFUEnsemblGeneIds (GRCh38): ENSG00000107882
EnsemblGeneIds (GRCh37): ENSG00000107882
OMIM: 607035, Gene2Phenotype
SUFU is in 21 panels
1 review
Ellen Thomas (Genomics England Curator)
Comment on list classification: Risk of medulloblastoma in children; may occur before other features are apparent.Created: 27 May 2016, 7:55 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Basal cell nevus syndrome, OMIM:109400
- {Medulloblastoma}, OMIM:155255
- {Meningioma, familial, susceptibility to}, OMIM:607174
- OMIM
- 607035
- Clinvar variants
- Variants in SUFU
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal ciliopathies
- Ophthalmological ciliopathies
- Holoprosencephaly - NOT chromosomal
- Childhood onset dystonia, chorea or related movement disorder
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Intellectual disability
- Ataxia and cerebellar anomalies - narrow panel
- Genodermatoses with malignancies
- Neurological ciliopathies
- Hydrocephalus
- Childhood solid tumours
- Fetal anomalies
- 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
- Limb disorders
- Rare multisystem ciliopathy disorders
- Childhood solid tumours cancer susceptibility
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 Brain, CNS, and PNS Cancer to {Medulloblastoma}, OMIM:155255; {Meningioma, familial, susceptibility to}, OMIM:607174
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for SUFU was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)SUFU was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Source: Emory Genetics Laboratory
Added New Source
Eik Haraldsdottir (Genomics England)SUFU was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Sources: Emory Genetics Laboratory