Ensembl is currently experiencing issues

The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.

You can check Ensembl's status at status.ensembl.org

LROMI1

Chr 17

lncRNA regulator of macrophage immunity 1

I cannot provide a clinical gene summary for LROMI1 as no information about this gene's protein function, associated diseases, or inheritance pattern was provided in the data you referenced. To write an accurate clinical summary following the specified guidelines, I would need details about what the LROMI1 protein does, what neurological conditions result from mutations in this gene, and how the condition is inherited.

Clinical SummaryLROMI1
📋
ClinVar Variants
42 unique Pathogenic / Likely Pathogenic of 42 total submissions
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/LROMI1?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

42 submitted variants in ClinVar

Classification Summary

Pathogenic38
Likely Pathogenic4
38
Pathogenic
4
Likely Pathogenic

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
38
Likely Pathogenic
4
VUS
0
Likely Benign
0
Benign
0
Total42

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

LROMI1 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →

No publications found for LROMI1