Ataxia - paediatric
Gene: EBF3
EBF3 (early B-cell factor 3)
EnsemblGeneIds (GRCh38): ENSG00000108001
EnsemblGeneIds (GRCh37): ENSG00000108001
OMIM: 607407, Gene2Phenotype
EBF3 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000108001
EnsemblGeneIds (GRCh37): ENSG00000108001
OMIM: 607407, Gene2Phenotype
EBF3 is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Twenty unrelated families reported with mono-allelic variants in this gene and HADDS, a neurodevelopmental syndrome characterised by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia.Created: 12 Sep 2020, 3:22 a.m. | Last Modified: 12 Sep 2020, 3:22 a.m.
Panel Version: 0.233
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypotonia, ataxia, and delayed development syndrome, MIM# 617330
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Royal Melbourne Hospital
- Expert Review Green
- Phenotypes
-
- Hypotonia, ataxia and delayed development syndrome, 617330
- OMIM
- 607407
- Clinvar variants
- Variants in EBF3
- Penetrance
- None
- Panels with this gene
History Filter Activity
19 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: EBF3 was added gene: EBF3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: EBF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EBF3 were set to Hypotonia, ataxia and delayed development syndrome, 617330