RS1

Chr XXLR

retinoschisin 1

Also known as: RS, XLRS1

NCBI Gene: 6247ENSG00000102104UniProt: O15537OMIM: 300839

This gene encodes an extracellular protein that plays a crucial role in the cellular organization of the retina. The encoded protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex. Mutations in this gene are responsible for X-linked retinoschisis, a common, early-onset macular degeneration in males that results in a splitting of the inner layers of the retina and severe loss in vision. [provided by RefSeq, Oct 2008]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

RetinoschisisMIM #312700
XLR
RetinoschisisMIM #312700
XLR
UniProtRetinoschisis juvenile X-linked 1

Clinical highlights

Gene-disease validity (ClinGen)
X-linked retinoschisis · XLDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
3
Active trials
104
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.30
LOEUF· LoF intol.
LOF
Mechanism· G2P
📖
GeneReview available — RS1
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.30LOEUF
pLI 0.957
Z-score 2.91
OE 0.00 (0.00–0.30)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
0.97Z-score
OE missense 0.73 (0.61–0.89)
75 obs / 102.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.30)
0≤0.351.4
Missense OE?0.73 (0.61–0.89)
0≤0.61.4
Synonymous OE?0.82
0≤1.21.6
LoF obs/exp: 0 / 9.9Missense obs/exp: 75 / 102.6Syn Z: 0.92

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RS1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients