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Mendeliome

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

1 review

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
  • Literature
Phenotypes
  • autoinflammatory syndrome, familial, X-linked, Behcet-like 2 MONDO:0024770
OMIM
300775
Clinvar variants
Variants in ELF4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Mar 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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).

7 Mar 2025, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ELF4 was added gene: ELF4 was added to Mendeliome. 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 38231408 Phenotypes for gene: ELF4 were set to autoinflammatory syndrome, familial, X-linked, Behcet-like 2 MONDO:0024770