Childhood solid tumours
Gene: SUFUEnsemblGeneIds (GRCh38): ENSG00000107882
EnsemblGeneIds (GRCh37): ENSG00000107882
OMIM: 607035, Gene2Phenotype
SUFU is in 21 panels
2 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene greenCreated: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
SUFU is associated with a phenotype in OMIM and probably associated with a phenotype in Gene2Phenotype. There are >3 unrelated cases of patients with different germline variants in SUFU who have Basal cell nevus syndrome or Medulloblastoma. Therefore, there is enough evidence to promote this gene to green status.Created: 25 Jun 2019, 3:11 p.m. | Last Modified: 25 Jun 2019, 3:11 p.m.
Panel Version: 1.24
Publications
Lara Hawkes (Genomics England)
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
-
- NHS GMS
- Expert Review Green
- Expert list
- Expert List
- 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
- Publications
- Panels with this gene
-
- Ophthalmological ciliopathies
- Multiple monogenic benign skin tumours
- Limb disorders
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- Intellectual disability
- Holoprosencephaly - NOT chromosomal
- 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
- Rare multisystem ciliopathy disorders
- Childhood solid tumours cancer susceptibility
- 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, desmoplastic, 155255; Basal cell nevus syndrome, 109400; SUFU associated Medulloblastoma to Basal cell nevus syndrome, OMIM:109400; {Medulloblastoma}, OMIM:155255; {Meningioma, familial, susceptibility to}, OMIM:607174
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to SUFU. Mode of inheritance for gene SUFU was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes SUFU associated Medulloblastoma for gene: SUFU Publications for gene SUFU were changed from 19533801; 29186568; 22829011; 25403219 to 19533801
Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update
Ivone Leong (Genomics England Curator)Source Expert list was added to SUFU. Source Expert Review Green was added to SUFU. Mode of inheritance for gene SUFU was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Medulloblastoma, desmoplastic, 155255; Basal cell nevus syndrome, 109400 for gene: SUFU Publications for gene SUFU were changed from to 19533801; 29186568; 22829011; 25403219 Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: SUFU was added gene: SUFU was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: SUFU was set to