1. Panels
  2. DDG2P
  3. CRIPT
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

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 5 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease CRIPT-related short stature, microcephaly, poikiloderma and skeletal abnormalities (Rothmund Thomson like), OMIM:615789 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 24389050;27250922;36630262;37013901).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10
The DDG2P confidence category for the disease SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, OMIM:615789 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:24389050).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, OMIM:615789; CRIPT-related short stature, microcephaly, poikiloderma and skeletal abnormalities (Rothmund Thomson like), OMIM:615789

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 4.10

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible.
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 615789
OMIM
604594
Clinvar variants
Variants in CRIPT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to CRIPT. Rating Changed from Red List (low evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: CRIPT was added gene: CRIPT was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRIPT were set to 24389050 Phenotypes for gene: CRIPT were set to SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 615789