Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome
Gene: SUFU
SUFU (SUFU negative regulator of hedgehog signaling)
EnsemblGeneIds (GRCh38): ENSG00000107882
EnsemblGeneIds (GRCh37): ENSG00000107882
OMIM: 607035, Gene2Phenotype
SUFU is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000107882
EnsemblGeneIds (GRCh37): ENSG00000107882
OMIM: 607035, Gene2Phenotype
SUFU is in 21 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #620343) and the OMIM record was last accessed on 29 December 2025.Created: 29 Dec 2025, 11:19 a.m. | Last Modified: 29 Dec 2025, 11:19 a.m.
Panel Version: 1.3
SUFU has been added to the panel for R214 Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 3:08 p.m. | Last Modified: 30 Jun 2023, 3:08 p.m.
Panel Version: 0.1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Basal cell nevus syndrome 2, OMIM:620343
- basal cell nevus syndrome 2, MONDO:0958189
- 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
29 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: SUFU were changed from to Basal cell nevus syndrome 2, OMIM:620343; basal cell nevus syndrome 2, MONDO:0958189
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: SUFU was added gene: SUFU was added to Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown