Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: EBF3

No list

EBF3 (early B-cell factor 3)
EnsemblGeneIds (GRCh38): ENSG00000108001
EnsemblGeneIds (GRCh37): ENSG00000108001
OMIM: 607407, Gene2Phenotype
EBF3 is in 6 panels

1 review

Zornitza Stark (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.
Sources: Expert list
Created: 12 Sep 2020, 3:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypotonia, ataxia, and delayed development syndrome, MIM# 617330

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Hypotonia, ataxia, and delayed development syndrome, MIM# 617330
OMIM
607407
Clinvar variants
Variants in EBF3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Sep 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: EBF3 was added gene: EBF3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: EBF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EBF3 were set to 28017373; 28017372; 28017370; 32366537 Phenotypes for gene: EBF3 were set to Hypotonia, ataxia, and delayed development syndrome, MIM# 617330 Review for gene: EBF3 was set to GREEN gene: EBF3 was marked as current diagnostic