Craniosynostosis

Gene: CRTAP

Red List (low evidence)

CRTAP (cartilage associated protein)
EnsemblGeneIds (GRCh38): ENSG00000170275
EnsemblGeneIds (GRCh37): ENSG00000170275
OMIM: 605497, Gene2Phenotype
CRTAP is in 4 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Single case reported in the literature with E40* variant - has CSS Balasubramanian et al 2015. Other variants in this gene are associated with type 2&3 OI. CSS may be acquired phenomenon? ; 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
Cole Carpenter

Publications

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: CRTAP; Suggested initial gene rating: amber
Created: 5 Mar 2019, 11:21 a.m.

Details

Sources
  • NHS GMS
Phenotypes
  • Cole Carpenter
OMIM
605497
Clinvar variants
Variants in CRTAP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Cole Carpenter for gene: CRTAP

11 May 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: CRTAP were set to

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: CRTAP was added gene: CRTAP was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: CRTAP was set to