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Mendeliome

Gene: REXO2

Amber List (moderate evidence)

REXO2 (RNA exonuclease 2)
EnsemblGeneIds (GRCh38): ENSG00000076043
EnsemblGeneIds (GRCh37): ENSG00000076043
OMIM: 607149, Gene2Phenotype
REXO2 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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: Literature
Created: 13 Aug 2024, 1:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Type 1 interferonopathy of childhood, MONDO:0957408, REXO2-related

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Type 1 interferonopathy of childhood, MONDO:0957408, REXO2-related
OMIM
607149
Clinvar variants
Variants in REXO2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rexo2 has been classified as Amber List (Moderate Evidence).

13 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rexo2 has been classified as Amber List (Moderate Evidence).

13 Aug 2024, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: REXO2 was added gene: REXO2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: REXO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: REXO2 were set to 39107301 Phenotypes for gene: REXO2 were set to Type 1 interferonopathy of childhood, MONDO:0957408, REXO2-related Review for gene: REXO2 was set to AMBER