TRMT10A

Chr 4

tRNA methyltransferase 10A

Also known as: HEL-S-88, MSSGM, MSSGM1, RG9MTD2, TRM10

NCBI Gene: 93587 ENSG00000145331 UniProt: Q8TBZ6

This protein is an S-adenosyl-L-methionine-dependent methyltransferase that catalyzes the formation of N(1)-methylguanine at position 9 in tRNAs. Biallelic mutations cause autosomal recessive microcephaly, short stature, and impaired glucose metabolism. The gene is highly tolerant to loss-of-function variation in the general population (very low pLI score).

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein that belongs to the tRNA (Guanine-1)-methyltransferase family. A similar gene in yeast modifies several different tRNA species. Mutations in this gene are associated with microcephaly, short stature, and impaired glucose metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMicrocephaly, short stature, and impaired glucose metabolism 1

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)

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P/LP submissions

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P/LP missense

1.18

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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