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Primary immunodeficiency

Gene: ELF4

Red List (low evidence)

ELF4 (E74 like ETS transcription factor 4)
EnsemblGeneIds (GRCh38): ENSG00000102034
EnsemblGeneIds (GRCh37): ENSG00000102034
OMIM: 300775, Gene2Phenotype
ELF4 is in 2 panels

5 reviews

Boaz Palterer (University of Florence)

Green List (high evidence)

Tyler et al. ( ) identified 3 males from unrelated families carrying hemizygous loss-of-function mutations presenting with early-onset mucosal autoinflammation and inflammatory bowel disease (IBD) characteristics, including fevers and ulcers that responded to interleukin-1 (IL-1), tumor necrosis factor or IL-12p40 blockade.
Created: 30 Jul 2021, 8:14 p.m. | Last Modified: 30 Jul 2021, 8:14 p.m.
Panel Version: 2.452

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Inflammatory bowel disease; IBD; mucosal inflammation; fever; ulcers; Behcet-like disease

Tracy Briggs (Manchester Genomic Medicine Centre)

Red List (low evidence)

Sophie Hambleton (Newcastle University)

Red List (low evidence)

Peter Arkwright (Royal Manchester Foundation Trust)

Red List (low evidence)

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Three negative expert reviews. No phenotype in OMIM. No disease associated in Gen2Phen.
Created: 11 May 2016, 10:41 a.m.
Comment on mode of pathogenicity: unknown
Created: 10 May 2016, 11:01 a.m.


Mode of Inheritance
  • A- or hypo-gammaglobulinaemia v1.25
  • Expert Review Red
  • X-linked hypogammaglobulinemia with isolated growth hormone deficiency
Clinvar variants
Variants in ELF4
Panels with this gene

History Filter Activity

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

6 Apr 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ELF4 were set to X-linked hypogammaglobulinemia with isolated growth hormone deficiency

29 Mar 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

ELF4 was added to Primary immunodeficiency disorders panel. Sources: Expert Review Red, A- or hypo-gammaglobulinaemia v1.25

29 Mar 2018, Gel status: 1


Louise Daugherty (Genomics England Curator)

ELF4 was created by Louise Daugherty