Aliases: RPC1, RPC155, hRPC155, C160.
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: POLR3A
animal model: Mus musculus
|
| Wiedemann-Rautenstrauch Syndrome | causative germline partial loss of function |
mechanism: Biallelic POLR3A Variants with Residual Pol III Function
animal model: Oligodendrocyte-lineage conditional Polr3a mutant mouse; Polr3a G672E knock-in mouse
|
| Hypomyelinating Leukodystrophy 7 |
untyped
Causative
|
|
| Immunodeficiency 101 (Varicella Zoster Virus-Specific) | no genetic record germline partial loss of function |
mechanism: RNA Polymerase III Subunit Missense Variant
|
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 |
|---|---|---|---|
| POLR3A-related disorder MONDO:0700276 | AR | Definitive 2024-08-28 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.