Disorders of immune dysregulation

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 2 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Reviewed according to PMID: 35748970

AIFBL2 is characterised by the onset of inflammatory symptoms in the first decade of life in males. Typically present with oral mucosal ulceration and skin inflammation however can present with decreased NK cells and low memory B cells.
Individuals typical have normal levels of serum IgM, G, A but reduced responses to live viral vaccines

Hemizygous mutations reported in at least 3 unrelated affected males with an autoinflammatory condition
Sources: Other
Created: 12 Dec 2023, 10:55 p.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
Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (MIM#301074)

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

15 Dec 2023, 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).

15 Dec 2023, 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).

12 Dec 2023, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: ELF4 was added gene: ELF4 was added to Disorders of immune dysregulation. Sources: Other 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 34326534, 35266071; 35748970 Phenotypes for gene: ELF4 were set to Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (MIM#301074) Review for gene: ELF4 was set to GREEN