LRRC24

Chr 8

leucine rich repeat containing 24

Also known as: LRRC14OS

NCBI Gene: 441381 ENSG00000254402 UniProt: Q50LG9 OMIM: 620672

The LRRC24 protein is predicted to positively regulate synapse assembly and localizes to the plasma membrane and extracellular matrix. Mutations in this gene have been associated with neurodevelopmental disorders, though the clinical phenotype and inheritance pattern are not well-established from current data. This gene shows minimal constraint against loss-of-function variants (pLI = 0.0009, LOEUF = 0.96), suggesting tolerance to such mutations.

OMIM ResearchSummary from RefSeq

Predicted to act upstream of or within positive regulation of synapse assembly. Predicted to be located in membrane. Predicted to be active in external side of plasma membrane; extracellular matrix; and extracellular space. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Multiplemechanism

Clinical Summary— LRRC24

📋

ClinVar Variants

89 VUS of 97 total submissions

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (1)

gnomad: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

This gene — mechanism propensity

0.75top 25%

GOF

0.75top 25%

LOF

0.3452th %ile

This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

GOFprediction above median

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

97 submitted variants in ClinVar

ClinVar

Classification Summary

VUS89

Likely Benign7

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	89	0	89
Likely Benign	5	2	7
Benign	0	0	0
Total	94	2	96

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

56 pathogenic / likely-pathogenic (of 73) ClinVar copy-number / structural variants overlap LRRC24 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →