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Primary immunodeficiency

Gene: ELF4

Amber List (moderate evidence)

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

7 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Upgraded from Red to Amber but there is enough evidence to rate this gene as Green at the next GMS panel update. At least two variants identified in three unrelated individuals with autoinflammatory disease characterised by fever, oral ulcers and mucosal inflammation. Supported by functional studies and mouse model.
Created: 14 Sep 2021, 10:46 a.m. | Last Modified: 14 Sep 2021, 10:46 a.m.
Panel Version: 2.461

Dmitrijs Rots (RadboudUMC)

Green List (high evidence)

Multiple male patients with similar phenotype and functional data
Created: 12 Sep 2021, 11:13 a.m. | Last Modified: 12 Sep 2021, 11:13 a.m.
Panel Version: 2.458

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

Phenotypes
Ulcers; fever; inflammatory bowel disease; autoinflammatory condition

Publications

Boaz Palterer (University of Florence)

Green List (high evidence)

Tyler et al. ( https://www.nature.com/articles/s41590-021-00984-4 ) 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

Phenotypes
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.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • A- or hypo-gammaglobulinaemia v1.25
Phenotypes
  • Inflammatory bowel disease
  • Mucosal inflammation
  • Fever
  • Ulcers
  • Behcet-like disease
  • X-linked hypogammaglobulinemia with isolated growth hormone deficiency
Tags
Q3_21_rating
OMIM
300775
Clinvar variants
Variants in ELF4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Sep 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ELF4 were changed from X-linked hypogammaglobulinemia with isolated growth hormone deficiency to Inflammatory bowel disease; Mucosal inflammation; Fever; Ulcers; Behcet-like disease; X-linked hypogammaglobulinemia with isolated growth hormone deficiency

14 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: elf4 has been classified as Amber List (Moderate Evidence).

14 Sep 2021, Gel status: 1

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: ELF4.

14 Sep 2021, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ELF4 were set to 16264330

14 Sep 2021, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: ELF4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

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

Created

Louise Daugherty (Genomics England Curator)

ELF4 was created by Louise Daugherty