Transplant Co-Morbidity Superpanel
Gene: CRTAP
CRTAP (cartilage associated protein)
EnsemblGeneIds (GRCh38): ENSG00000170275
EnsemblGeneIds (GRCh37): ENSG00000170275
OMIM: 605497, Gene2Phenotype
CRTAP is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000170275
EnsemblGeneIds (GRCh37): ENSG00000170275
OMIM: 605497, Gene2Phenotype
CRTAP is in 12 panels
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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
1 Aug 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CRTAP was added gene: CRTAP was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRTAP were set to 21955071; 17192541; 19846465 Phenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII MIM#610682