PRPH2
HGNC:9942 · SaudiVarKB evidence summary derived from retained literature mentions.
2Gene mentions
2Publications
4Linked variants
2Associated phenotypes
Associated phenotypes
Co-mentioned in PRPH2 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| retinal dystrophy | HP:0000556 | 1 | 1 |
| Leber congenital amaurosis | — | 1 | 1 |
Linked variants
Variants normalized to PRPH2| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.497G>A | c.497G>A | 1 | 1 |
| p.Cys166Tyr | p.Cys166Tyr | 1 | 1 |
| c.136C>T | c.136C>T | 1 | 1 |
| p.Arg46* | p.Arg46* | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|
No structured population context is available.
Supporting publications
2 records- 2016Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation.The British journal of ophthalmologyPubMed ↗
- 2014Prph2 mutations as a cause of electronegative ERG.Retina (Philadelphia, Pa.)PubMed ↗