Craniosynostosis

Gene: TICRR

Red List (low evidence)

TICRR (TOPBP1 interacting checkpoint and replication regulator)
EnsemblGeneIds (GRCh38): ENSG00000140534
EnsemblGeneIds (GRCh37): ENSG00000140534
OMIM: 613298, Gene2Phenotype
TICRR is in 1 panel

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Unpublished data in one family - AR ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
coronal craniosynostosis; cardiomyopathy

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: TICRR; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.

Andrew Wilkie (University of Oxford)

Red List (low evidence)

Findings are based on unpublished data in one family (2 affected siblings), compound heterozygous for a nonsense and conserved missense mutation. Severe, often lethal phenotype.
Created: 18 Oct 2017, 9:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
coronal craniosynostosis, cardiomyopathy

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • coronal craniosynostosis, cardiomyopathy
OMIM
613298
Clinvar variants
Variants in TICRR
Penetrance
Complete
Panels with this gene

History Filter Activity

5 Mar 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to TICRR.

20 Oct 2017, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

18 Oct 2017, Gel status: 0

Added New Source

Andrew Wilkie (University of Oxford)

TICRR was added to Craniosynostosis syndromes phenotypespanel. Sources: Expert Review

18 Oct 2017, Gel status: 0

Created

Andrew Wilkie (University of Oxford)

TICRR was created by awilkie