Osteogenesis Imperfecta and Osteoporosis
Gene: CRTAPEnsemblGeneIds (GRCh38): ENSG00000170275
EnsemblGeneIds (GRCh37): ENSG00000170275
OMIM: 605497, Gene2Phenotype
CRTAP is in 12 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
At least 8 individuals reported with OI type VII and biallelic LoF variants. Note that missense variants have not been reported pathogenic.Created: 24 Nov 2020, 6:19 a.m. | Last Modified: 24 Nov 2020, 6:19 a.m.
Panel Version: 0.48
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type VII MIM#610682
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Osteogenesis imperfecta, type VII MIM#610682
- OMIM
- 605497
- Clinvar variants
- Variants in CRTAP
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Prepair 1000+
- Osteogenesis Imperfecta and Osteoporosis
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: crtap has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CRTAP were changed from to Osteogenesis imperfecta, type VII MIM#610682
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CRTAP were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CRTAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CRTAP was added gene: CRTAP was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CRTAP was set to Unknown