RAX Chromosome 18
Retina and anterior neural fold homeobox
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What This Gene Does
This gene encodes a homeobox-containing transcription factor that functions in eye development. The gene is expressed early in the eye primordia, and is required for retinal cell fate determination and also regulates stem cell proliferation. Mutations in this gene have been reported in patients with defects in ocular development, including microphthalmia, anophthalmia, and coloboma.[provided by RefSeq, Oct 2009]
Gene Info
Gene Group
PRD class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
18q21.32
Ensembl
ENSG00000134438
Associated Conditions (2)
Isolated microphthalmia 3
RAX-related disorder
Key Variants
RS200098438
Conflicting classifications of pathogenicity
Isolated microphthalmia 3, Isolated microphthalmia 3
Health Risk
RS200338566
Conflicting classifications of pathogenicity
Isolated microphthalmia 3, Isolated microphthalmia 3
Health Risk
RS536765190
Conflicting classifications of pathogenicity
Isolated microphthalmia 3, RAX-related disorder, Isolated microphthalmia 3
Health Risk
RS570401263
Conflicting classifications of pathogenicity
Isolated microphthalmia 3, Isolated microphthalmia 3
Health Risk
RS753579122
Conflicting classifications of pathogenicity
Isolated microphthalmia 3, Isolated microphthalmia 3
Health Risk
RS766154387
Conflicting classifications of pathogenicity
Isolated microphthalmia 3, Isolated microphthalmia 3
Health Risk
RS771409497
Conflicting classifications of pathogenicity
Isolated microphthalmia 3, RAX-related disorder, Isolated microphthalmia 3
Health Risk
RS1421573171
Likely pathogenic
Health Risk
RS1555667735
Likely pathogenic
Health Risk
RS2511488169
Likely pathogenic
Isolated microphthalmia 3, Isolated microphthalmia 3
Health Risk
RS104894663
Pathogenic
Isolated microphthalmia 3, Isolated microphthalmia 3
Health Risk
RS1178632580
Pathogenic
Health Risk
All Variants (17)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200098438 | Health Risk | Conflicting classifications of pathogenicity | Isolated microphthalmia 3, Isolated microphthalmia 3 |
| RS200338566 | Health Risk | Conflicting classifications of pathogenicity | Isolated microphthalmia 3, Isolated microphthalmia 3 |
| RS536765190 | Health Risk | Conflicting classifications of pathogenicity | Isolated microphthalmia 3, RAX-related disorder, Isolated microphthalmia 3 |
| RS570401263 | Health Risk | Conflicting classifications of pathogenicity | Isolated microphthalmia 3, Isolated microphthalmia 3 |
| RS753579122 | Health Risk | Conflicting classifications of pathogenicity | Isolated microphthalmia 3, Isolated microphthalmia 3 |
| RS766154387 | Health Risk | Conflicting classifications of pathogenicity | Isolated microphthalmia 3, Isolated microphthalmia 3 |
| RS771409497 | Health Risk | Conflicting classifications of pathogenicity | Isolated microphthalmia 3, RAX-related disorder, Isolated microphthalmia 3 |
| RS1421573171 | Health Risk | Likely pathogenic | — |
| RS1555667735 | Health Risk | Likely pathogenic | — |
| RS2511488169 | Health Risk | Likely pathogenic | Isolated microphthalmia 3, Isolated microphthalmia 3 |
| RS104894663 | Health Risk | Pathogenic | Isolated microphthalmia 3, Isolated microphthalmia 3 |
| RS1178632580 | Health Risk | Pathogenic | — |
| RS121909127 | Health Risk | Pathogenic | Isolated microphthalmia 3, Isolated microphthalmia 3 |
| RS121909128 | Health Risk | Pathogenic | Isolated microphthalmia 3, Isolated microphthalmia 3 |
| RS1603388837 | Health Risk | Pathogenic | Isolated microphthalmia 3, Isolated microphthalmia 3 |
| RS2070316408 | Health Risk | Pathogenic | Isolated microphthalmia 3, Isolated microphthalmia 3 |
| RS2511488658 | Health Risk | Pathogenic | Isolated microphthalmia 3, Isolated microphthalmia 3 |