This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
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
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Other
- Phenotypes
-
- Basal cell nevus syndrome, 109400
- Gorlin syndrome
- Nevoid basal cell carcinoma syndrome (NBCCS)
- OMIM
- 607035
- Clinvar variants
- Variants in SUFU
- Penetrance
- Complete
- 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
11 May 2017, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)SUFU was added to Undiagnosed neurocutaneous disorderspanel. Sources: Other
11 May 2017, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)SUFU was created by rfoulger