MT-TV across dismech

MT-TV (mitochondrially encoded tRNA-Val (GUN)) is named by 2 disorder entries. It is a mitochondrial-DNA-encoded transfer RNA for valine.

Normal function

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

Causative records

The entries that type MT-TV as causative are MELAS Syndrome; Mitochondrial Spastic Paraplegia. 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-TV name the process mitochondrial translation. Mitochondrial Spastic Paraplegia places the gene on the node , with the variants recorded as germline. Through that entry the gene reaches the mechanism module mitochondrial_dysfunction.

Where the layers disagree

ClinGen classifies MT-TV for 2 diseases. The ClinGen disease with no matching dismech entry is mitochondrial disease. ClinGen rates the gene moderate for Leigh syndrome. The entries ClinGen classifies it for whose own records do not type it are Leber-like Hereditary Optic Neuropathy, Autosomal Recessive 1; Leigh Syndrome. 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.