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Fetal anomalies

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 6 panels

3 reviews

Karina Sandoval (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 37013901 identified 6 individuals with Rothmund-Thomson syndrome characterised by poikiloderma, sparse hair, small stature, skeletal defects, cancer, cataracts, resembling features of premature aging. Two new variants identified and 4 were already published. 5 were hom, 1 was chet, all with different variants.
All CRIPT individuals fulfilled the diagnostic criteria for RTS, and additionally had neurodevelopmental delay and seizures.

CRIPT-deficient fibroblasts showed an unremarkable mitotic progression and unremarkable number of mitotic errors,

c.132del p.(Ala45Glyfs*82), hom
c.227G>A, p.(Cys76Tyr), hom
c.133_134insGG,p.(Ala45Glyfs*82),hom
c.141del p.(Phe47Leufs*84), hom
c.8G>A p.(Cys3Tyr), 1,331 bp del exon 1, chet
c.7_8del; p.(Cys3Argfs*4), hom
Created: 6 Apr 2023, 2:54 a.m. | Last Modified: 6 Apr 2023, 2:54 a.m.
Panel Version: 1.93

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short stature with microcephaly and distinctive facies (MIM#615789); Rothmund-Thomson syndrome MONDO:0010002

Publications

Suliman Khan (Victorian Clinical Genetics Services)

I don't know

PMID: 36630262 reported a patient with profound prenatal/postnatal growth restriction, developmental delay, dysmorphic facial features, and skin lesions along with the findings of bicytopenia and extensive retinal pigmentation defect. A novel truncating homozygous variant was detected in CRIPT gene.
Created: 23 Feb 2023, 3:48 a.m. | Last Modified: 23 Feb 2023, 3:48 a.m.
Panel Version: 1.88

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short stature with microcephaly and distinctive facies

Publications

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

PMID: 24389050
- 2 unrelated probands homozygous for PTVs. However 1 was deceased and DNA was unavailable therefore parents were sequenced
- OFCs -2.5 and -2.7SD

PMID: 27250922
- 1x proband with a head circumference of Z= -2.7.
- het for a missense which was maternally inherited. Because the father was negative for SNVs, they did CMA and found a small heterozygous deletion 1.6kb in size encompassing exon 1 of CRIPT. This deletion was paternally inherited

*did not find new reports since
Sources: Literature
Created: 2 Sep 2020, 8:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short stature with microcephaly and distinctive facies (MIM#615789)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Short stature with microcephaly and distinctive facies (MIM#615789)
  • Rothmund-Thomson syndrome MONDO:0010002
OMIM
604594
Clinvar variants
Variants in CRIPT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Apr 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CRIPT were changed from Short stature with microcephaly and distinctive facies, 615789 to Short stature with microcephaly and distinctive facies (MIM#615789); Rothmund-Thomson syndrome MONDO:0010002

6 Apr 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CRIPT were set to 24389050; 27250922

6 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cript has been classified as Green List (High Evidence).

19 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cript has been classified as Amber List (Moderate Evidence).

19 Dec 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CRIPT were set to

24 Oct 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CRIPT was added gene: CRIPT was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CRIPT were set to Short stature with microcephaly and distinctive facies, 615789