Aliases: FLJ30273, SDR7C2, LCA13, RP53.
ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.
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 |
|---|---|---|
| Leber Congenital Amaurosis 13 | causative germline loss of function |
mechanism: Biallelic RDH12 Loss of Function
|
| RDH12-Related Dominant Retinopathy |
untyped
Causative heterozygous frameshift variants in the penultimate coding exon that are predicted to escape nonsense-mediated decay and encode a protein with a shared novel C-terminal peptide.
germline
unknown
CLINGEN: moderate
|
mechanism: Heterozygous RDH12 Penultimate-Exon Frameshift; NMD-Escaping Transcript Encoding RDH12 With a Novel C-Terminus
|
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 |
|---|---|---|---|
| RDH12-related recessive retinopathy MONDO:0800099 | AR | Definitive 2022-03-03 |
no dismech entry |
| RDH12-related dominant retinopathy MONDO:0800100 | AD | Moderate 2023-03-02 |
Identity from HGNC (snapshot 2026-10-24). Page layers are described in the gene pages documentation.