Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: ELF4The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:59 a.m. | Last Modified: 8 Mar 2022, 10:59 a.m.
Panel Version: 2.532
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
Multiple male patients with similar phenotype and functional dataCreated: 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
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
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: unknownCreated: 10 May 2016, 11:01 a.m.
Tag Q3_21_rating was removed from gene: ELF4.
Source Expert Review Green was added to ELF4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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
Gene: elf4 has been classified as Amber List (Moderate Evidence).
Tag Q3_21_rating tag was added to gene: ELF4.
Publications for gene: ELF4 were set to 16264330
Mode of inheritance for gene: ELF4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
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.
Phenotypes for ELF4 were set to X-linked hypogammaglobulinemia with isolated growth hormone deficiency
ELF4 was added to Primary immunodeficiency disorders panel. Sources: Expert Review Red, A- or hypo-gammaglobulinaemia v1.25
ELF4 was created by Louise Daugherty