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Mendeliome

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

The two conditions probably reflect a spectrum of severity. Multiple families reported with each.
Created: 20 Jan 2022, 11:33 p.m. | Last Modified: 20 Jan 2022, 11:33 p.m.
Panel Version: 0.10723

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bruck syndrome 1, MONDO:0009806; Osteogenesis imperfecta, type XI, OMIM:610968; Osteogenesis imperfecta type 11, MONDO:0012592; Bruck syndrome 1, OMIM:259450

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bruck syndrome 1, MONDO:0009806
  • Osteogenesis imperfecta, type XI, OMIM:610968
  • Osteogenesis imperfecta type 11, MONDO:0012592
  • Bruck syndrome 1, OMIM:259450
OMIM
607063
Clinvar variants
Variants in FKBP10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jan 2022, 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).

20 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FKBP10 were changed from to Bruck syndrome 1, MONDO:0009806; Osteogenesis imperfecta, type XI, OMIM:610968; Osteogenesis imperfecta type 11, MONDO:0012592; Bruck syndrome 1, OMIM:259450

20 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FKBP10 were set to

20 Jan 2022, Gel status: 3

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

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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FKBP10 was set to Unknown