PRR12 Chromosome 19
Proline rich 12
Upload your DNA to see your personal genotypes for variants in PRR12.
What This Gene Does
This gene encodes a proline-rich protein that contains two A-T hook DNA binding domains. A chromosomal translocation and gene fusion between this gene and zinc finger, MIZ-type containing 1 (Gene ID: 57178) may underlie intellectual disability and neuropsychiatric problems in a human patient. Enriched expression of this gene in embryonic mouse brain suggests that this gene may play a role in nervous system development. [provided by RefSeq, Jul 2016]
Associated Conditions (11)
Neuroocular syndrome 1
Neuroocular syndrome
Inborn genetic diseases
complex microphthalmia
PRR12-related disorder
Abnormality of vision
Iris coloboma
Delayed speech and language development
Motor delay
Autism
Intellectual disability
Key Variants
RS1568430264
Conflicting classifications of pathogenicity
Health Risk
RS2122303487
Conflicting classifications of pathogenicity
Neuroocular syndrome 1, Neuroocular syndrome 1
Health Risk
RS2122304074
Conflicting classifications of pathogenicity
Neuroocular syndrome, Neuroocular syndrome
Health Risk
RS2122390232
Conflicting classifications of pathogenicity
Neuroocular syndrome, Neuroocular syndrome 1, Neuroocular syndrome
Health Risk
RS531265357
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neuroocular syndrome 1, Inborn genetic diseases
Health Risk
RS748252615
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1337693743
Likely pathogenic
Neuroocular syndrome, Neuroocular syndrome
Health Risk
RS1348922417
Likely pathogenic
Neuroocular syndrome, Neuroocular syndrome
Health Risk
RS1403667556
Likely pathogenic
Neuroocular syndrome, Neuroocular syndrome
Health Risk
RS1435355373
Likely pathogenic
Neuroocular syndrome 1, Neuroocular syndrome, Neuroocular syndrome 1
Health Risk
RS1436734029
Likely pathogenic
Neuroocular syndrome 1, Neuroocular syndrome 1
Health Risk
RS1555740341
Likely pathogenic
Health Risk
All Variants (57)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2514271351 | Health Risk | Pathogenic | — |
| RS2514272497 | Health Risk | Pathogenic | — |
| RS2514272636 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2514273561 | Health Risk | Pathogenic | — |
| RS2514293729 | Health Risk | Pathogenic | — |
| RS758401922 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2122376761 | Health Risk | Pathogenic/Likely pathogenic | complex microphthalmia, Neuroocular syndrome 1, complex microphthalmia |