LMBRD2 Chromosome 5
LMBR1 domain containing 2
Upload your DNA to see your personal genotypes for variants in LMBRD2.
What This Gene Does
Involved in adrenergic receptor signaling pathway. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
5p13.2
Ensembl
ENSG00000164187
Associated Conditions (9)
brain structure abnormalities
Developmental delay
Dysmorphic features
Motor delay
Developmental delay with variable neurologic and brain abnormalities
Neurodevelopmental disorder
See cases
LMBRD2-related disorder
Inborn genetic diseases
Key Variants
RS1743709062
Likely pathogenic
brain structure abnormalities, Developmental delay, Dysmorphic features
Health Risk
RS2111857806
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2111911679
Likely pathogenic
Developmental delay with variable neurologic and brain abnormalities, Developmental delay with variable neurologic and brain abnormalities
Health Risk
RS2111857835
Pathogenic/Likely pathogenic
Developmental delay with variable neurologic and brain abnormalities, Neurodevelopmental disorder, See cases
Health Risk
RS2111907902
Pathogenic/Likely pathogenic
Developmental delay with variable neurologic and brain abnormalities, LMBRD2-related disorder, Developmental delay with variable neurologic and brain abnormalities
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1743709062 | Health Risk | Likely pathogenic | brain structure abnormalities, Developmental delay, Dysmorphic features |
| RS2111857806 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2111911679 | Health Risk | Likely pathogenic | Developmental delay with variable neurologic and brain abnormalities, Developmental delay with variable neurologic and brain abnormalities |
| RS2111857835 | Health Risk | Pathogenic/Likely pathogenic | Developmental delay with variable neurologic and brain abnormalities, Neurodevelopmental disorder, See cases |
| RS2111907902 | Health Risk | Pathogenic/Likely pathogenic | Developmental delay with variable neurologic and brain abnormalities, LMBRD2-related disorder, Developmental delay with variable neurologic and brain abnormalities |