PITX3 Chromosome 10
Paired like homeodomain 3
Upload your DNA to see your personal genotypes for variants in PITX3.
What This Gene Does
This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
PRD class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
10q24.32
Ensembl
ENSG00000107859
Associated Conditions (10)
PITX3-related disorder
Inborn genetic diseases
Cataract 11 multiple types
Developmental cataract
Cataract 11
posterior polar
with microphthalmia and neurodevelopmental abnormalities
ANTERIOR SEGMENT DYSGENESIS 1
MULTIPLE SUBTYPES
Anterior segment dysgenesis 1
Key Variants
RS148445461
Conflicting classifications of pathogenicity
PITX3-related disorder, Inborn genetic diseases, PITX3-related disorder
Health Risk
RS104894175
Likely pathogenic
Cataract 11 multiple types, Cataract 11 multiple types
Health Risk
RS1057518058
Likely pathogenic
Health Risk
RS1564991147
Likely pathogenic
PITX3-related disorder, PITX3-related disorder
Health Risk
RS2133794292
Likely pathogenic
Developmental cataract, Developmental cataract
Health Risk
RS1564991256
Pathogenic
Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities
Health Risk
RS2133794937
Pathogenic
Health Risk
RS1411557416
Pathogenic/Likely pathogenic
Cataract 11, posterior polar, ANTERIOR SEGMENT DYSGENESIS 1
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148445461 | Health Risk | Conflicting classifications of pathogenicity | PITX3-related disorder, Inborn genetic diseases, PITX3-related disorder |
| RS104894175 | Health Risk | Likely pathogenic | Cataract 11 multiple types, Cataract 11 multiple types |
| RS1057518058 | Health Risk | Likely pathogenic | — |
| RS1564991147 | Health Risk | Likely pathogenic | PITX3-related disorder, PITX3-related disorder |
| RS2133794292 | Health Risk | Likely pathogenic | Developmental cataract, Developmental cataract |
| RS1564991256 | Health Risk | Pathogenic | Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities |
| RS2133794937 | Health Risk | Pathogenic | — |
| RS1411557416 | Health Risk | Pathogenic/Likely pathogenic | Cataract 11, posterior polar, ANTERIOR SEGMENT DYSGENESIS 1 |