Autoinflammatory Disorders
Gene: REXO2EnsemblGeneIds (GRCh38): ENSG00000076043
EnsemblGeneIds (GRCh37): ENSG00000076043
OMIM: 607149, Gene2Phenotype
REXO2 is in 2 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Type 1 interferonopathy of childhood, MONDO:0957408, REXO2-related
Peter McNaughton (Queensland Children's Hospital)
Female infant of Chinese ancestry, presented at 2 years of age with whole-body rash with histological features of hyperkeratosis, parakeratosis and acanthosis with elongated rete ridges, focal liquefaction and degeneration of the basal layers of epidermis, vascular proliferation in the superficial dermis, infiltration of lymphocytes and eosinophils around small blood vessels in the dermis. She has recurrent infections (frequent and severe pneumonia).
Extensive functional validation demonstrating heterozygous de novo mutation (p.T132A) impairs REXO2’s ability to cleave RNA leading to activation of the dsRNA sensor MDA5 leading to a Type 1 interferonopathy.
Sources: LiteratureCreated: 12 Aug 2024, 12:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
type 1 interferonopathy
Publications
- PMID: 39107301
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Type 1 interferonopathy of childhood, MONDO:0957408, REXO2-related
- OMIM
- 607149
- Clinvar variants
- Variants in REXO2
- Penetrance
- None
- Publications
-
- PMID: 39107301
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rexo2 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: REXO2 were changed from type 1 interferonopathy to Type 1 interferonopathy of childhood, MONDO:0957408, REXO2-related
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rexo2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Peter McNaughton (Queensland Children's Hospital)gene: REXO2 was added gene: REXO2 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: REXO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: REXO2 were set to PMID: 39107301 Phenotypes for gene: REXO2 were set to type 1 interferonopathy Mode of pathogenicity for gene: REXO2 was set to Other Review for gene: REXO2 was set to AMBER