Cerebral Palsy
Gene: FUS
FUS (FUS RNA binding protein)
EnsemblGeneIds (GRCh38): ENSG00000089280
EnsemblGeneIds (GRCh37): ENSG00000089280
OMIM: 137070, Gene2Phenotype
FUS is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000089280
EnsemblGeneIds (GRCh37): ENSG00000089280
OMIM: 137070, Gene2Phenotype
FUS is in 7 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual with mono-allelic splice variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.
Sources: LiteratureCreated: 27 May 2024, 5:39 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Essential tremor, MIM#614782
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Essential tremor, MIM#614782
- OMIM
- 137070
- Clinvar variants
- Variants in FUS
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
30 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fus has been classified as Red List (Low Evidence).
30 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fus has been classified as Red List (Low Evidence).
27 May 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: FUS was added gene: FUS was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: FUS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FUS were set to PMID: 38693247 Phenotypes for gene: FUS were set to Essential tremor, MIM#614782 Review for gene: FUS was set to RED