KIRREL1

Chr 1

kirre like nephrin family adhesion molecule 1

Also known as: KIRREL, NEPH1, NPHS23

NCBI Gene: 55243ENSG00000183853UniProt: Q96J84

NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNephrotic syndrome 23

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.25
LOEUF· LoF intol.
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.25LOEUF
pLI 0.999
Z-score 5.00
OE 0.11 (0.05–0.25)
Highly constrained

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

Missense Constraint?
2.61Z-score
OE missense 0.67 (0.61–0.73)
333 obs / 496.3 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.11 (0.05–0.25)
0≤0.351.4
Missense OE?0.67 (0.61–0.73)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 4 / 36.7Missense obs/exp: 333 / 496.3Syn Z: 0.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KIRREL1 · 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