Embryonal tumour of possible germline origin
Gene: SUFUEnsemblGeneIds (GRCh38): ENSG00000107882
EnsemblGeneIds (GRCh37): ENSG00000107882
OMIM: 607035, Gene2Phenotype
SUFU is in 21 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
SUFU has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.Created: 26 Jan 2026, 6:10 p.m. | Last Modified: 26 Jan 2026, 6:10 p.m.
Panel Version: 0.7
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #155255, #607174 & #620343) and the OMIM records were last accessed on 30 December 2025.Created: 30 Dec 2025, 11:14 a.m. | Last Modified: 30 Dec 2025, 11:14 a.m.
Panel Version: 0.2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
basal cell nevus syndrome 2, MONDO:0958189; {Medulloblastoma}, OMIM:155255; {Meningioma, familial, susceptibility to}, OMIM:607174; Basal cell nevus syndrome 2, OMIM:620343
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- {Medulloblastoma}, OMIM:155255
- Basal cell nevus syndrome 2, OMIM:620343
- {Meningioma, familial, susceptibility to}, OMIM:607174
- basal cell nevus syndrome 2, MONDO:0958189
- OMIM
- 607035
- Clinvar variants
- Variants in SUFU
- Penetrance
- None
- Panels with this gene
-
- Skeletal ciliopathies
- Holoprosencephaly - NOT chromosomal
- Ophthalmological ciliopathies
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Ataxia and cerebellar anomalies - narrow panel
- Genodermatoses with malignancies
- Intellectual disability
- Hydrocephalus
- Childhood solid tumours
- Adult solid tumours for rare disease
- Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome
- Childhood onset dystonia, chorea or related movement disorder
- Familial tumours of the nervous system
- DDG2P
- Adult solid tumours cancer susceptibility
- Rare multisystem ciliopathy disorders
- Neurological ciliopathies
- Limb disorders
- Childhood solid tumours cancer susceptibility
- Fetal anomalies
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: SUFU was added gene: SUFU was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SUFU were set to {Medulloblastoma}, OMIM:155255; Basal cell nevus syndrome 2, OMIM:620343; {Meningioma, familial, susceptibility to}, OMIM:607174; basal cell nevus syndrome 2, MONDO:0958189