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Hereditary ataxia with onset in adulthood
Gene: EBF3

EBF3 (early B-cell factor 3)
EnsemblGeneIds (GRCh38): ENSG00000108001
EnsemblGeneIds (GRCh37): ENSG00000108001
OMIM: 607407, Gene2Phenotype
EBF3 is in 5 panels

4 reviews

Sarah Leigh (Genomics England Curator)

I don't know

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 5:26 p.m. | Last Modified: 9 Mar 2022, 5:26 p.m.

Panel Version: 2.144

The tag Q2_21_phenotype has been added to this gene, because variants in this gene are associated with childhood onset of ataxia in Hypotonia, ataxia, and delayed development syndrome OMIM:617330.
Created: 19 May 2021, 11:44 a.m. | Last Modified: 26 May 2021, 7:41 a.m.

Panel Version: 2.57

Created: 19 May 2021, 11:44 a.m.
Last Modified: 26 May 2021, 7:41 a.m.
Panel version: 2.144

Zornitza Stark (Australian Genomics)

Red List (low evidence)

This is a paediatric onset disorder.
Created: 12 Sep 2020, 3:25 a.m. | Last Modified: 12 Sep 2020, 3:25 a.m.

Panel Version: 2.9

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Created: 12 Sep 2020, 3:25 a.m.
Last Modified: 12 Sep 2020, 3:25 a.m.
Panel version: 2.9

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.8

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Multiple reports in literature - loss of function seems to be main mechanism
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypotonia, ataxia and delayed development syndrome, 617330

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
NHS GMS
Wessex and West Midlands GLH

Phenotypes

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

OMIM

607407

Clinvar variants

Variants in EBF3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

9 Mar 2022, Gel status: 2

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_phenotype was removed from gene: EBF3.

9 Mar 2022, Gel status: 2

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Amber was added to EBF3. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

26 May 2021, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_expert_review was removed from gene: EBF3.

19 May 2021, Gel status: 3

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_phenotype tag was added to gene: EBF3. Tag Q2_21_expert_review tag was added to gene: EBF3.

19 May 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: EBF3 were set to

14 Apr 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: EBF3 were changed from Hypotonia, ataxia and delayed development syndrome, 617330 to Hypotonia, ataxia, and delayed development syndrome OMIM:617330; hypotonia, ataxia, and delayed development syndrome MONDO:0015021

27 Apr 2019, Gel status: 3