Cerebral Palsy
Gene: EBF3EnsemblGeneIds (GRCh38): ENSG00000108001
EnsemblGeneIds (GRCh37): ENSG00000108001
OMIM: 607407, Gene2Phenotype
EBF3 is in 7 panels
1 review
Clare van Eyk (University of Adelaide)
Single individual with de novo missense variant in EBF3 reported in a monocentric cohort study (PMID: 39213953). Clinically DD, ataxia, dysarthria, strabism, cortical visual impairment.
Sources: LiteratureCreated: 2 Sep 2024, 6:29 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypotonia, ataxia and delayed development syndrome MIM#617330
Publications
- PMID: 39213953
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Hypotonia, ataxia and delayed development syndrome MIM#617330
- OMIM
- 607407
- Clinvar variants
- Variants in EBF3
- Penetrance
- None
- Publications
-
- PMID: 39213953
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ebf3 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ebf3 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: EBF3 was added gene: EBF3 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: EBF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EBF3 were set to PMID: 39213953 Phenotypes for gene: EBF3 were set to Hypotonia, ataxia and delayed development syndrome MIM#617330 Review for gene: EBF3 was set to RED