Genodermatoses with malignancies
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: At least 3 reported families with Gorlin phenotype and SUFU mutations.Created: 15 Feb 2016, 12:06 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- 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
- Publications
-
- PMID: 25403219
- Panels with this gene
-
- Holoprosencephaly - NOT chromosomal
- Ophthalmological ciliopathies
- Skeletal ciliopathies
- Multiple monogenic benign skin tumours
- Childhood onset dystonia, chorea or related movement disorder
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Intellectual disability
- Genodermatoses with malignancies
- Fetal anomalies
- DDG2P
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- Adult solid tumours for rare disease
- Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome
- Familial tumours of the nervous system
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Neurological ciliopathies
- 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 Medulloblastoma; Medulloblastoma, desmoplastic; {Meningioma, familial, susceptibility to}; (originally on Gorlin syndrome gene panel) 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).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen Thomas (Genomics England Curator)Publications for SUFU were set to PMID: 25403219
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)SUFU was added to Genodermatoses with malignanciespanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)SUFU was added to Genodermatoses with malignanciespanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen