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Prepair 500+

Gene: FKBP10

Green List (high evidence)

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

1 review

Cassandra Muller (Victorian Clinical Genetics Services)

Green List (high evidence)

Severe, early onset. Early-onset bone fractures and progressive skeletal deformities. Well established gene-disease association.
Created: 21 Nov 2024, 2:46 a.m. | Last Modified: 21 Nov 2024, 2:46 a.m.
Panel Version: 1.571

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bruck syndrome 1, 259450 (3); osteogenesis imperfecta, type XI, 610968 (3)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bruck syndrome 1, MIM#259450
  • osteogenesis imperfecta, type XI, MIM#610968
OMIM
607063
Clinvar variants
Variants in FKBP10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Apr 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fkbp10 has been classified as Green List (High Evidence).

30 Apr 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FKBP10 were changed from Bruck syndrome 1, 259450 (3) to Bruck syndrome 1, MIM#259450; osteogenesis imperfecta, type XI, MIM#610968

30 Apr 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FKBP10 were set to

3 Nov 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

gene: FKBP10 was added gene: FKBP10 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKBP10 were set to Bruck syndrome 1, 259450 (3)