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Fetal anomalies

Gene: CRTAP

Green List (high evidence)

CRTAP (cartilage associated protein)
EnsemblGeneIds (GRCh38): ENSG00000170275
EnsemblGeneIds (GRCh37): ENSG00000170275
OMIM: 605497, Gene2Phenotype
CRTAP is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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, 10:59 p.m. | Last Modified: 24 Nov 2020, 10:59 p.m.
Panel Version: 0.37

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type VII MIM#610682

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Phenotypes
  • Osteogenesis imperfecta, type VII, MIM# 610682
OMIM
605497
Clinvar variants
Variants in CRTAP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: crtap has been classified as Green List (High Evidence).

24 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CRTAP were changed from Osteogenesis imperfecta, type VII 610682 to Osteogenesis imperfecta, type VII, MIM# 610682

24 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CRTAP were set to

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CRTAP was added gene: CRTAP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII 610682