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Intellectual disability

Gene: EBF3

Green List (high evidence)

EBF3 (early B-cell factor 3)
EnsemblGeneIds (GRCh38): ENSG00000108001
EnsemblGeneIds (GRCh37): ENSG00000108001
OMIM: 607407, Gene2Phenotype
EBF3 is in 4 panels

4 reviews

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Gene2Phenotype both DD and IF gene with an ID-related HPO term - Intellectual Disability, Ataxia, and Facial Dysmorphism
Created: 4 Jan 2018, 10:25 a.m.

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Appropriate phenotype for the ID panel, early onset hypotonia with global delay.
Created: 19 Dec 2017, 3:06 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : loss of function
Created: 27 Jul 2017, 5:36 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 11:20 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Amber
Phenotypes
  • Hypotonia, ataxia, and delayed development syndrome 617330
OMIM
607407
Clinvar variants
Variants in EBF3
Penetrance
Complete
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to EBF3.

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

8 Jan 2018, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for EBF3 were set to Hypotonia, ataxia, and delayed development syndrome 617330

8 Jan 2018, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for EBF3 were set to Spastic paraplegia and psychomotor retardation with or without seizures 616756

8 Jan 2018, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for EBF3 were set to Hypotonia, ataxia, and delayed development syndrome

4 Jan 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Green was added to EBF3. Panel: Intellectual disability

28 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

EBF3 was created by BRIDGE

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

EBF3 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene