LMX1B Chromosome 9
LIM homeobox transcription factor 1 beta
Upload your DNA to see your personal genotypes for variants in LMX1B.
What This Gene Does
This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
LIM class homeoboxes
Locus Type
gene with protein product
Location
9q33.3
Ensembl
ENSG00000136944
Associated Conditions (11)
Nail-patella syndrome
Nail-patella-like renal disease
LMX1B-related disorder
Inborn genetic diseases
Kidney disorder
Focal segmental glomerulosclerosis
Neurodevelopmental disorder
Nephrotic syndrome
Inherited focal segmental glomerulosclerosis
Lipoid nephrosis
Autosomal recessive Alport syndrome
Key Variants
RS1057520783
Conflicting classifications of pathogenicity
Health Risk
RS1203103557
Conflicting classifications of pathogenicity
Nail-patella syndrome, Nail-patella syndrome
Health Risk
RS121909488
Conflicting classifications of pathogenicity
Nail-patella syndrome, Nail-patella syndrome, Nail-patella-like renal disease
Health Risk
RS145052881
Conflicting classifications of pathogenicity
Nail-patella syndrome, Nail-patella-like renal disease, LMX1B-related disorder
Health Risk
RS149434820
Conflicting classifications of pathogenicity
Nail-patella syndrome, Nail-patella-like renal disease, Nail-patella syndrome
Health Risk
RS181422024
Conflicting classifications of pathogenicity
Nail-patella syndrome, Nail-patella-like renal disease, Inborn genetic diseases
Health Risk
RS2118997138
Conflicting classifications of pathogenicity
Nail-patella syndrome, Nail-patella-like renal disease, Nail-patella syndrome
Health Risk
RS2490682650
Conflicting classifications of pathogenicity
Nail-patella syndrome, Nail-patella syndrome
Health Risk
RS371560611
Conflicting classifications of pathogenicity
Nail-patella syndrome, Nail-patella-like renal disease, Nail-patella syndrome
Health Risk
RS373429181
Conflicting classifications of pathogenicity
LMX1B-related disorder, LMX1B-related disorder
Health Risk
RS376229612
Conflicting classifications of pathogenicity
Kidney disorder, LMX1B-related disorder, Kidney disorder
Health Risk
RS376265443
Conflicting classifications of pathogenicity
Nail-patella syndrome, Nail-patella syndrome
Health Risk
All Variants (130)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121909487 | Health Risk | Pathogenic | Nail-patella syndrome, Nail-patella syndrome |
| RS121909489 | Health Risk | Pathogenic | Nail-patella syndrome, Nail-patella-like renal disease, Nail-patella syndrome |
| RS1266786790 | Health Risk | Pathogenic | Nail-patella syndrome, Nail-patella syndrome |
| RS1397111065 | Health Risk | Pathogenic | — |
| RS1427331961 | Health Risk | Pathogenic | Nail-patella syndrome, Nail-patella syndrome, Nail-patella syndrome |
| RS1554721879 | Health Risk | Pathogenic | Nail-patella syndrome, Nail-patella syndrome |
| RS1554728698 | Health Risk | Pathogenic | Nail-patella syndrome, Inborn genetic diseases, Nail-patella syndrome |
| RS1564169730 | Health Risk | Pathogenic | Nail-patella syndrome, Nail-patella syndrome |
| RS1588257904 | Health Risk | Pathogenic | Nail-patella syndrome, Nail-patella syndrome |
| RS1588307140 | Health Risk | Pathogenic | Nail-patella syndrome, Nail-patella-like renal disease, Nail-patella syndrome |
| RS1588307152 | Health Risk | Pathogenic | Nail-patella syndrome, Nail-patella syndrome |
| RS1588307460 | Health Risk | Pathogenic | Nail-patella syndrome, Nail-patella syndrome |
| RS1588307477 | Health Risk | Pathogenic | Nail-patella syndrome, Nail-patella syndrome, Nail-patella syndrome |
| RS1588307486 | Health Risk | Pathogenic | Nail-patella syndrome, Nail-patella syndrome |
| RS1588307501 | Health Risk | Pathogenic | Nail-patella syndrome, Nail-patella syndrome |
| RS1588309269 | Health Risk | Pathogenic | Nail-patella syndrome, Nail-patella syndrome |
| RS1588309293 | Health Risk | Pathogenic | Nail-patella syndrome, Nail-patella syndrome |
| RS1835285052 | Health Risk | Pathogenic | LMX1B-related disorder, LMX1B-related disorder |
| RS1835285480 | Health Risk | Pathogenic | LMX1B-related disorder, LMX1B-related disorder |
| RS1835285672 | Health Risk | Pathogenic | — |
| RS1835286357 | Health Risk | Pathogenic | — |
| RS1835287345 | Health Risk | Pathogenic | — |
| RS1835287406 | Health Risk | Pathogenic | Nail-patella-like renal disease, Nail-patella syndrome, Nail-patella-like renal disease |
| RS1835287461 | Health Risk | Pathogenic | LMX1B-related disorder, LMX1B-related disorder |
| RS2030102410 | Health Risk | Pathogenic | — |
| RS2118823223 | Health Risk | Pathogenic | — |
| RS2118823366 | Health Risk | Pathogenic | Nail-patella syndrome, Nail-patella syndrome |
| RS2118823374 | Health Risk | Pathogenic | — |
| RS2118823413 | Health Risk | Pathogenic | — |
| RS2118823701 | Health Risk | Pathogenic | — |
| RS2118823763 | Health Risk | Pathogenic | — |
| RS2118823819 | Health Risk | Pathogenic | — |
| RS2118986578 | Health Risk | Pathogenic | — |
| RS2118986608 | Health Risk | Pathogenic | — |
| RS2118986658 | Health Risk | Pathogenic | — |
| RS2118986709 | Health Risk | Pathogenic | — |
| RS2118986877 | Health Risk | Pathogenic | — |
| RS2118986919 | Health Risk | Pathogenic | — |
| RS2118986969 | Health Risk | Pathogenic | — |
| RS2118987040 | Health Risk | Pathogenic | Nail-patella syndrome, Nail-patella syndrome |
| RS2118987177 | Health Risk | Pathogenic | — |
| RS2118991726 | Health Risk | Pathogenic | — |
| RS2118992231 | Health Risk | Pathogenic | — |
| RS2118992738 | Health Risk | Pathogenic | — |
| RS2118992752 | Health Risk | Pathogenic | — |
| RS2118992878 | Health Risk | Pathogenic | — |
| RS2118993320 | Health Risk | Pathogenic | — |
| RS2490513173 | Health Risk | Pathogenic | — |
| RS2490517188 | Health Risk | Pathogenic | Nail-patella syndrome, Nail-patella syndrome |
| RS2490517427 | Health Risk | Pathogenic | — |