CRIPT Chromosome 2
CXXC repeat containing interactor of PDZ3 domain
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What This Gene Does
This gene encodes a protein that binds to the PDZ3 peptide recognition domain. The encoded protein may modulates protein interactions with the cytoskeleton. A mutation in this gene resulted in short stature with microcephaly and distinctive facies. [provided by RefSeq, Jun 2014]
Associated Conditions (2)
Rothmund-Thomson syndrome type 3
Ateleiotic dwarfism
Key Variants
RS2466583881
Likely pathogenic
Health Risk
RS746415991
Likely pathogenic
Health Risk
RS757078301
Likely pathogenic
Rothmund-Thomson syndrome type 3, Rothmund-Thomson syndrome type 3
Health Risk
RS1558716043
Pathogenic
Rothmund-Thomson syndrome type 3, Rothmund-Thomson syndrome type 3
Health Risk
RS2104174410
Pathogenic
Health Risk
RS2466595181
Pathogenic
Rothmund-Thomson syndrome type 3, Rothmund-Thomson syndrome type 3
Health Risk
RS587779348
Pathogenic
Ateleiotic dwarfism, Rothmund-Thomson syndrome type 3, Ateleiotic dwarfism
Health Risk
RS587779356
Pathogenic
Ateleiotic dwarfism, Rothmund-Thomson syndrome type 3, Ateleiotic dwarfism
Health Risk
RS771238795
Pathogenic
Rothmund-Thomson syndrome type 3, Rothmund-Thomson syndrome type 3
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2466583881 | Health Risk | Likely pathogenic | — |
| RS746415991 | Health Risk | Likely pathogenic | — |
| RS757078301 | Health Risk | Likely pathogenic | Rothmund-Thomson syndrome type 3, Rothmund-Thomson syndrome type 3 |
| RS1558716043 | Health Risk | Pathogenic | Rothmund-Thomson syndrome type 3, Rothmund-Thomson syndrome type 3 |
| RS2104174410 | Health Risk | Pathogenic | — |
| RS2466595181 | Health Risk | Pathogenic | Rothmund-Thomson syndrome type 3, Rothmund-Thomson syndrome type 3 |
| RS587779348 | Health Risk | Pathogenic | Ateleiotic dwarfism, Rothmund-Thomson syndrome type 3, Ateleiotic dwarfism |
| RS587779356 | Health Risk | Pathogenic | Ateleiotic dwarfism, Rothmund-Thomson syndrome type 3, Ateleiotic dwarfism |
| RS771238795 | Health Risk | Pathogenic | Rothmund-Thomson syndrome type 3, Rothmund-Thomson syndrome type 3 |