Inflammatory bowel disease
Gene: ELF4
Phenotypes
Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (MIM#301074)
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
Phenotypes for gene: ELF4 were changed from Inflammatory bowel disease to Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (MIM#301074)
Gene: elf4 has been classified as Green List (High Evidence).
Gene: elf4 has been classified as Green List (High Evidence).
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