Osteogenesis imperfecta
Gene: FKBP10EnsemblGeneIds (GRCh38): ENSG00000141756
EnsemblGeneIds (GRCh37): ENSG00000141756
OMIM: 607063, Gene2Phenotype
FKBP10 is in 5 panels
5 reviews
Duncan Baker (Sheffield Genetics)
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: FKBP10; Suggested initial gene rating: greenCreated: 3 Apr 2019, 4:08 p.m.
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Raymond Dalgleish (University of Leicester)
https://oi.gene.le.ac.uk/home.php?select_db=FKBP10Created: 8 Dec 2015, noon
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Osteogenesis imperfecta, type XI, 610968
- Osteogenesis Imperfecta, Recessive
- Osteogenesis Imperfecta and Decreased Bone Density
- skeletal dysplasias
- OMIM
- 607063
- Clinvar variants
- Variants in FKBP10
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to FKBP10. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Chris Boustred (Genomics England)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene FKBP10 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene FKBP10 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene FKBP10 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene FKBP10 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene FKBP10 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene FKBP10 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene FKBP10 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene FKBP10 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene FKBP10 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)FKBP10 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene FKBP10 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)FKBP10 was added to Osteogenesis Imperfecta panel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)FKBP10 was added to Osteogenesis Imperfecta panel. Sources: Radboud University Medical Center, Nijmegen