IUGR and IGF abnormalities
Gene: CRIPT
CRIPT (CXXC repeat containing interactor of PDZ3 domain)
EnsemblGeneIds (GRCh38): ENSG00000119878
EnsemblGeneIds (GRCh37): ENSG00000119878
OMIM: 604594, Gene2Phenotype
CRIPT is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000119878
EnsemblGeneIds (GRCh37): ENSG00000119878
OMIM: 604594, Gene2Phenotype
CRIPT is in 5 panels
2 reviews
Peter Clayton (University of Manchester)
Philip Murray (University of Manchester)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- frontal bossing, high forehead, sparse hair and eyebrows, telecanthus, mild proptosis (staring look), upturned nostrils, and hypoplastic terminal phalanges with brachydactyly
- OMIM
- 604594
- Clinvar variants
- Variants in CRIPT
- Penetrance
- Complete
- Publications
-
- PMC3912419
- Panels with this gene
History Filter Activity
25 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
25 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
25 Oct 2015, Gel status: 0
Added New Source
Philip Murray (University of Manchester)CRIPT was added to IUGR and IGF abnormalitiespanel. Sources: Literature
25 Oct 2015, Gel status: 0
Created
Philip Murray (University of Manchester)CRIPT was created by PhilMurray