Osteogenesis Imperfecta and Osteoporosis
Gene: SEC24DEnsemblGeneIds (GRCh38): ENSG00000150961
EnsemblGeneIds (GRCh37): ENSG00000150961
OMIM: 607186, Gene2Phenotype
SEC24D is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Five families reported, multiple fractures are a key part of the phenotype.Created: 8 Aug 2020, 2:04 a.m. | Last Modified: 8 Aug 2020, 2:04 a.m.
Panel Version: 0.43
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cole-Carpenter syndrome 2, MIM# 616294
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Cole-Carpenter syndrome 2, MIM# 616294
- OMIM
- 607186
- Clinvar variants
- Variants in SEC24D
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sec24d has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SEC24D were changed from to Cole-Carpenter syndrome 2, MIM# 616294
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SEC24D were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SEC24D 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: SEC24D was added gene: SEC24D was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SEC24D was set to Unknown