Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: CRTAP
CRTAP (cartilage associated protein)
EnsemblGeneIds (GRCh38): ENSG00000170275
EnsemblGeneIds (GRCh37): ENSG00000170275
OMIM: 605497, Gene2Phenotype
CRTAP is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000170275
EnsemblGeneIds (GRCh37): ENSG00000170275
OMIM: 605497, Gene2Phenotype
CRTAP is in 4 panels
2 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
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 WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cole Carpenter
Publications
Eleanor Williams (Genomics England Curator)
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: amberCreated: 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