RNASET2

Chr 6

ribonuclease T2

Also known as: RNASE6PL, bA514O12.3

NCBI Gene: 8635 ENSG00000026297 UniProt: O00584

This ribonuclease cleaves single-stranded RNA molecules and plays essential roles in innate immune response by degrading microbial RNAs for TLR recognition and in mitochondrial RNA processing. Mutations cause leukoencephalopathy, cystic, without megalencephaly, which is inherited in an autosomal recessive pattern. The gene shows low constraint to loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, OMIM, UniProt

This ribonuclease gene is a novel member of the Rh/T2/S-glycoprotein class of extracellular ribonucleases. It is a single copy gene that maps to 6q27, a region associated with human malignancies and chromosomal rearrangement. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLeukoencephalopathy, cystic, without megalencephaly

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.96

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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