Fetal anomalies
Gene: EBF3

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. Microcephaly also reported.
Created: 12 Sep 2020, 3:26 a.m. | Last Modified: 6 Dec 2021, 10:17 a.m.

Panel Version: 0.1091

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 12 Sep 2020, 3:26 a.m.
Last Modified: 6 Dec 2021, 10:17 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.3000

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genomics England PanelApp
Genetic Health Queensland

Phenotypes

Hypotonia, ataxia, and delayed development syndrome MONDO:0015021
Hypotonia, ataxia, and delayed development syndrome OMIM:617330

OMIM

607407

Clinvar variants

Variants in EBF3

Penetrance

None

Publications

Panels with this gene