Inflammatory bowel disease
Gene: ELF4
ELF4 (E74 like ETS transcription factor 4)
EnsemblGeneIds (GRCh38): ENSG00000102034
EnsemblGeneIds (GRCh37): ENSG00000102034
OMIM: 300775, Gene2Phenotype
ELF4 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000102034
EnsemblGeneIds (GRCh37): ENSG00000102034
OMIM: 300775, Gene2Phenotype
ELF4 is in 2 panels
1 review
Peter McNaughton (Queensland Children's Hospital)
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: LiteratureCreated: 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
- PMID: 38231408
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
-
- Phenotypes
-
- Inflammatory bowel disease
- OMIM
- 300775
- Clinvar variants
- Variants in ELF4
- Penetrance
- None
- Publications
-
- PMID: 38231408
- Panels with this gene
History Filter Activity
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