RPGRIP1L

Chr 16

RPGRIP1 like

Also known as: COACH3, CORS3, FTM, JBTS7, MKS5, NPHP8, PPP1R134

NCBI Gene: 23322ENSG00000103494UniProt: Q68CZ1

The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtJoubert syndrome 7
UniProtMeckel syndrome 5
UniProtCOACH syndrome 3

Clinical highlights

Gene-disease validity (ClinGen)
ciliopathy · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.96
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — RPGRIP1L
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.96LOEUF
pLI 0.000
Z-score 1.86
OE 0.77 (0.62–0.96)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.11Z-score
OE missense 1.01 (0.95–1.08)
696 obs / 688.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.77 (0.62–0.96)
0≤0.351.4
Missense OE?1.01 (0.95–1.08)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 57 / 74.3Missense obs/exp: 696 / 688.0Syn Z: -0.00

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RPGRIP1L · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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