PNPT1 - dismech genes

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
Autosomal Recessive Nonsyndromic Hearing Loss 70	causative germline partial loss of function	mechanism: PNPT1 Biallelic Hypomorphic Missense Variants
Combined Oxidative Phosphorylation Defect Type 13	causative germline partial loss of function	mechanism: Biallelic PNPT1 Hypomorphic Variants
Autosomal Dominant Cerebellar Ataxia Type I	untyped SCA25 PNPT1 variants	mechanism: Mitochondrial RNA Metabolism Failure subtype: SCA25 scoped to subtype: SCA25

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
Leigh syndrome MONDO:0009723	AR	Moderate 2020-03-19	Leber-like Hereditary Optic Neuropathy, Autosomal Recessive 1 not named Leigh Syndrome not named

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.