Osteogenesis Imperfecta and Osteoporosis
Gene: FKBP10EnsemblGeneIds (GRCh38): ENSG00000141756
EnsemblGeneIds (GRCh37): ENSG00000141756
OMIM: 607063, Gene2Phenotype
FKBP10 is in 11 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Established gene-disease association with multiple unrelated individuals reported with features of OI.Created: 4 Dec 2024, 4:39 a.m. | Last Modified: 4 Dec 2024, 4:39 a.m.
Panel Version: 0.115
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
osteogenesis imperfecta type 11 MONDO:0012592; Bruck syndrome MONDO:0017195
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- osteogenesis imperfecta type 11 MONDO:0012592
- Bruck syndrome MONDO:0017195
- OMIM
- 607063
- Clinvar variants
- Variants in FKBP10
- 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: fkbp10 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FKBP10 were changed from to osteogenesis imperfecta type 11 MONDO:0012592; Bruck syndrome MONDO:0017195
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FKBP10 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: FKBP10 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: FKBP10 was added gene: FKBP10 was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FKBP10 was set to Unknown