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  3. CEBPE
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Autoinflammatory Disorders

Gene: CEBPE

Amber List (moderate evidence)
CEBPE (CCAAT/enhancer binding protein epsilon)
EnsemblGeneIds (GRCh38): ENSG00000092067
EnsemblGeneIds (GRCh37): ENSG00000092067
OMIM: 600749, Gene2Phenotype
CEBPE is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Three individuals from a single family homozygous for a missense variant. Extensive functional data presented. Gene already has an established role in immunological disorders.
Created: 28 Jul 2022, 10:11 p.m. | Last Modified: 28 Jul 2022, 10:11 p.m.
Panel Version: 0.161

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 108 with autoinflammation, MIM# 260570

Created: 28 Jul 2022, 10:11 p.m.
Last Modified: 28 Jul 2022, 10:11 p.m.
Panel version: 1.2

Peter McNaughton (Queensland Children's Hospital)

I don't know

Single family presenting with autoinflammatory syndrome - recurrent attacks of abdominal pain, aseptic fever, and systemic inflammation lasting 4 to 5 days. These were accompanied by an acute-phase response and occasionally by nailbed, tongue, submandibular and gluteal abscesses; intra-abdominal granulomas; pyoderma gangrenosum; and buccal ulcerations
Sources: Literature
Created: 26 Jul 2022, 6:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autoinflammation

Publications

Mode of pathogenicity
Other

Created: 26 Jul 2022, 6:03 a.m.

Panel version: 0.156

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Immunodeficiency 108 with autoinflammation , MIM# 260570
OMIM
600749
Clinvar variants
Variants in CEBPE
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

2 Nov 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CEBPE were changed from Autoinflammatory syndrome MONDO:0019751, CEBPE-related to Immunodeficiency 108 with autoinflammation , MIM# 260570

28 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cebpe has been classified as Amber List (Moderate Evidence).

28 Jul 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CEBPE were changed from Autoinflammation to Autoinflammatory syndrome MONDO:0019751, CEBPE-related

28 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cebpe has been classified as Amber List (Moderate Evidence).

26 Jul 2022, Gel status: 0

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

Peter McNaughton (Queensland Children's Hospital)

gene: CEBPE was added gene: CEBPE was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: CEBPE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEBPE were set to PMID: 31201888 Phenotypes for gene: CEBPE were set to Autoinflammation Mode of pathogenicity for gene: CEBPE was set to Other Review for gene: CEBPE was set to AMBER