Inflammatory bowel disease

Gene: ELF4

Green List (high evidence)

ELF4 (E74 like ETS transcription factor 4)
EnsemblGeneIds (GRCh38): ENSG00000102034
EnsemblGeneIds (GRCh37): ENSG00000102034
OMIM: 300775, Gene2Phenotype
ELF4 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phenotypes
Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (MIM#301074)

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

Cohort of 14 patients from 13 families with many presenting with gastrointestinal inflammation and ulceration. Frequently patients had been labelled with IBD prior to diagnosis of ELF4.
Sources: Literature
Created: 4 Mar 2024, 1:39 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Inflammatory bowel disease

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (MIM#301074)
OMIM
300775
Clinvar variants
Variants in ELF4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Mar 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ELF4 were changed from Inflammatory bowel disease to Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (MIM#301074)

7 Mar 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: elf4 has been classified as Green List (High Evidence).

7 Mar 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: elf4 has been classified as Green List (High Evidence).

4 Mar 2024, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Peter McNaughton (Queensland Children's Hospital)

gene: ELF4 was added gene: ELF4 was added to Inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: ELF4 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ELF4 were set to PMID: 38231408 Phenotypes for gene: ELF4 were set to Inflammatory bowel disease Review for gene: ELF4 was set to GREEN