POLR1C

RNA polymerase I and III subunit C

2 disorders 2 causative 6p21.1 gene with protein product

HGNC:20194 Monarch NCBI Gene 9533 ENSG00000171453 UniProt O15160 OMIM 610060

Aliases: RPA40, RPA39, RPA5, RPAC1, AC40, RPC40.

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
POLR-Related Leukodystrophy	causative germline	mechanism: Biallelic Hypomorphic Pol III Subunit Variant subtype: POLR1C
Treacher Collins Syndrome	causative germline	mechanism: Impaired Ribosome Biogenesis subtype: TCS3 animal model: Danio rerio scoped to subtype: TCS3

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
Treacher Collins syndrome 3 MONDO:0009558	AR	Moderate 2023-07-20	Treacher Collins Syndrome causative
POLR1C-related disorder MONDO:0700278	AR	Definitive 2026-02-02	no dismech entry

Mechanism modules · computed from kb/

pharyngeal_arch_patterning_serial_homology via Treacher Collins Syndrome

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