Osteogenesis Imperfecta and Osteoporosis
Gene: CREB3L1
CREB3L1 (cAMP responsive element binding protein 3 like 1)
EnsemblGeneIds (GRCh38): ENSG00000157613
EnsemblGeneIds (GRCh37): ENSG00000157613
OMIM: 616215, Gene2Phenotype
CREB3L1 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000157613
EnsemblGeneIds (GRCh37): ENSG00000157613
OMIM: 616215, Gene2Phenotype
CREB3L1 is in 7 panels
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Osteogenesis imperfecta, type XVI, 616229
- OMIM
- 616215
- Clinvar variants
- Variants in CREB3L1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
20 Apr 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: creb3l1 has been classified as Green List (High Evidence).
20 Apr 2020, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CREB3L1 were changed from to Osteogenesis imperfecta, type XVI, 616229
20 Apr 2020, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CREB3L1 were set to
20 Apr 2020, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CREB3L1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CREB3L1 was added gene: CREB3L1 was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CREB3L1 was set to Unknown