IUGR and IGF abnormalities

Gene: CRIPT

Green List (high evidence)

CRIPT (CXXC repeat containing interactor of PDZ3 domain)
EnsemblGeneIds (GRCh38): ENSG00000119878
EnsemblGeneIds (GRCh37): ENSG00000119878
OMIM: 604594, Gene2Phenotype
CRIPT is in 4 panels

2 reviews

Peter Clayton (University of Manchester)

Green List (high evidence)

Philip Murray (University of Manchester)

Green List (high evidence)

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
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