Skeletal Dysplasia_Fetal
Gene: FKBP10

FKBP10 (FK506 binding protein 10)
EnsemblGeneIds (GRCh38): ENSG00000141756
EnsemblGeneIds (GRCh37): ENSG00000141756
OMIM: 607063, Gene2Phenotype
FKBP10 is in 11 panels

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis.

Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XI is an autosomal recessive form of OI
Created: 17 Jan 2022, 11:52 p.m. | Last Modified: 17 Jan 2022, 11:52 p.m.

Panel Version: 0.2366

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bruck syndrome 1 MIM#259450; Osteogenesis imperfecta, type XI MIM#610968

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jan 2022, 11:52 p.m.
Last Modified: 17 Jan 2022, 11:52 p.m.
Panel version: Imported from Fetal anomalies panel version 0.2366

Details

Mode of Inheritance

Unknown

Sources

Victorian Clinical Genetics Services
Expert Review Green
Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

OMIM

607063

Clinvar variants

Variants in FKBP10

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

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 Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FKBP10 was set to Unknown

Skeletal Dysplasia_Fetal Gene: FKBP10