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Newborns main panel

Gene: ELF4

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 36823308 - 5 cases and review previous 6 cases from literature
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
David and Katrina both agree with XLR.
Created: 27 Mar 2023, 9:59 a.m. | Last Modified: 27 Mar 2023, 9:59 a.m.
Panel Version: 0.46
Created: 27 Mar 2023, 9:59 a.m.
Last Modified: 27 Mar 2023, 9:59 a.m.
Panel version: 0.137

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
Phenotypes
  • Autoinflammatory syndrome, familial, X-linked, Behcet-like 2
OMIM
300775
Clinvar variants
Variants in ELF4
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to ELF4. Added phenotypes Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 for gene: ELF4 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

14 Jul 2023, Gel status: 3

Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene: ELF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

5 Jul 2023, Gel status: 3

Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene ELF4 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 for gene: ELF4

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 for gene: ELF4

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to ELF4. Added phenotypes Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 for gene: ELF4 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: ELF4 was added gene: ELF4 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: ELF4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females