Curated summary · agent-written · kb/genes/curated/hgnc_7497.md

All 12 claims checked against the KB draft

MT-TS1 across dismech

MT-TS1 (mitochondrially encoded tRNA-Ser (UCN) 1) is named by 2 disorder entries. It is a mitochondrial-DNA-encoded transfer RNA for serine (UCN codons).

Normal function

The pinned ai-gene-review snapshot that the ingest layer reads has no core functions for MT-TS1 (0 terms). An upstream review of the gene is being added or updated.

Causative records

One entry types MT-TS1 as causative: MELAS Syndrome. In MELAS Syndrome the gene sits on the node Non-MT-TL1 mitochondrial tRNA dysfunction, and the entry records the variants as germline. The KB's mechanism annotations for MT-TS1 name the process mitochondrial translation.

Other entries

Palmoplantar Keratoderma-Deafness Syndrome has a genetic record for MT-TS1 whose relationship reads unknown and places the gene on no mechanism node.

Where the layers disagree

ClinGen classifies MT-TS1 for 1 disease, mitochondrial disease, which no dismech entry curates. Because the pinned ai-gene-review snapshot has no core functions for the gene, the KB and ai-gene-review currently share 0 GO process terms.

Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
MELAS Syndrome	causative germline	mechanism: Non-MT-TL1 mitochondrial tRNA dysfunction subtype: MT-TS1 scoped to subtype: MT-TS1
Palmoplantar Keratoderma-Deafness Syndrome	unknown	subtype: MT-TS1 scoped to subtype: MT-TS1

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
mitochondrial disease MONDO:0044970	MT	Definitive 2023-01-19	no dismech entry