Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Ataxia - paediatric

Gene: EBF3

Green List (high evidence)

EBF3 (early B-cell factor 3)
EnsemblGeneIds (GRCh38): ENSG00000108001
EnsemblGeneIds (GRCh37): ENSG00000108001
OMIM: 607407, Gene2Phenotype
EBF3 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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