Early onset or syndromic epilepsy
Gene: CRIPT

CRIPT (CXXC repeat containing interactor of PDZ3 domain)
EnsemblGeneIds (GRCh38): ENSG00000119878
EnsemblGeneIds (GRCh37): ENSG00000119878
OMIM: 604594, Gene2Phenotype
CRIPT is in 10 panels

1 review

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

PMID: 37013901 Averdunk et al., 2023
Report of 2 probands diagnosed with Rothmund-Thomson syndrome, harbouring biallelic CRIPT variants.
P1 - 4yo Moroccan female, homozygous for CRIPT: c.132del, p.Ala45Glnfs*86
P2 - 8yo Romanian male homozygous for CRIPT: c.227G>A, p.(Cys76Tyr)
Both patients had facial rash, poikiloderma, sparse hair, short stature, syndactyly of toes, seizures, abnormal teeth, developmental delay, recurrent chest infections; P1 also had cataracts, dystrophic nails, and a proximally placed thumb; only P2 had microcephaly.

Also includes literature review of previously reported patients (PMID: 36630262 Akalın et al., 2023; PMID: 27250922 Leduc et al., 2016; PMID: 24389050 Shaheen et al., 2014) - 4 unrelated probands with unique biallelic CRIPT variants: hmz c.133_134insGG, p.(Ala45Glyfs∗82); hmz c.141del p.(Phe47Leufs∗84); comp het c.8G>A p.(Cys3Tyr) & 1,331 bp del exon 1; hmz c.7_8del; p.(Cys3Argfs∗4).
2 individuals were from Saudi Arabia, one from Turkey, and one African American.
Phenotype: facial rash (3/4), poikiloderma (2/4), short stature (4/4), sparse hair (3/4), Osteopenia/metaphyseal striations (4/4), dystrophic nails (1/4), syndactyly of toes 4&5 (4/4), proportional microcephaly (4/4), dev delay (4/4), recurrent chest infections (4/4), anemia (3/4), variable retinal defects (4/4), abnormal teeth (2/4), scoliosis (4/4), 11 pairs of ribs (2/4).
None of the patients had cataracts.
Microcephaly severity: PMID: 27250922 head circumference was 47 cm (Z=−2.7) at 4 yrs. PMID: 24389050: individuals had head circumference of 45 cm (-2.5SD) and 35 cm (-2.7 SD) respectively at time of report. PMID: 36630262 - proband OFC was 44cm at last evaluation (-4.63 SDS).
Sources: Literature
Created: 11 Sep 2026, 10:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rothmund-Thomson syndrome, type 3, OMIM:615789; Rothmund-Thomson syndrome type 3, MONDO:0014347

Publications

Created: 11 Sep 2026, 10:53 a.m.

Panel version: 9.82

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Literature

Phenotypes

Rothmund-Thomson syndrome, type 3, OMIM:615789
Rothmund-Thomson syndrome type 3, MONDO:0014347

Tags

Q3_26_promote_green

OMIM

604594

Clinvar variants

Variants in CRIPT

Penetrance

None

Publications

Panels with this gene

History Filter Activity

11 Sep 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: CRIPT was added gene: CRIPT was added to Early onset or syndromic epilepsy. Sources: Literature Q3_26_promote_green tags were added to gene: CRIPT. Mode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRIPT were set to 24389050; 27250922; 36630262; 37013901 Phenotypes for gene: CRIPT were set to Rothmund-Thomson syndrome, type 3, OMIM:615789; Rothmund-Thomson syndrome type 3, MONDO:0014347 Review for gene: CRIPT was set to GREEN

Early onset or syndromic epilepsy Gene: CRIPT